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Sommaires des Revues - Annals Of Neurology

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Matrix metalloproteinase 9 is decreased in natalizumab ‐treated multiple sclerosis patients at risk for progressive multifocal leukoencephalopathy  Voir?

ObjectiveTo identify biomarkers associated with the development of progressive multifocal leukoencephalopathy (PML) in multiple sclerosis (MS) patients treated with natalizumab (NTZ). MethodsRelapsing–remitting MS patients who developed PML under NTZ therapy (pre‐PML) and non‐PML NTZ‐treated patients (NTZ‐ctr) were included in the study. Cryopreserved peripheral blood mononuclear cells and serum samples collected at baseline, at 1‐ and 2‐year treated time points, and during PML were analyzed for gene expression by RNA sequencing and for serum protein levels by Luminex and enzyme‐linked immunosorbent assays, respectively. ResultsAmong top differentially expressed genes in the RNA sequencing between pre‐PML and NTZ‐ctr patients, pathway analysis revealed a high representa...

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(22/07/2017 : 01:00)

Microbleeds in the Secondary Prevention of Small Subcortical Strokes Trial: Stroke, Mortality, and Treatment Interactions  Voir?

ObjectiveTo characterize cerebral microbleeds (CMBs) in lacunar stroke patients in the Secondary Prevention of Small Subcortical Strokes (SPS3) trial and to assess their relationship with recurrent stroke and death, and response to assigned treatment. MethodsSPS3 is a randomized, clinical trial conducted between 2003 and 2011. Patients with recent magnetic resonance imaging (MRI)‐documented lacunar infarcts were randomly assigned in a factorial design to target levels of systolic blood pressure (130–149mmHg vs <130mmHg; open label) and to antiplatelet treatment (aspirin/clopidogrel vs aspirin/placebo; double‐blinded). The current analysis involves 1,278 trial participants who had a baseline axial T2*‐weighted gradient echo MRI sequence allowing for CMB detection. ResultsCMBs wer...

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(19/07/2017 : 01:00)

Time ‐dependent risk of seizures in critically ill patients on continuous electroencephalogram  Voir?

ObjectiveFind the optimal continuous electroencephalographic (CEEG) monitoring duration for seizure detection in critically ill patients. MethodsWe analyzed prospective data from 665 consecutive CEEGs, including clinical factors and time‐to‐event emergence of electroencephalographic (EEG) findings over 72 hours. Clinical factors were selected using logistic regression. EEG risk factors were selected a priori. Clinical factors were used for baseline (pre‐EEG) risk. EEG findings were used for the creation of a multistate survival model with 3 states (entry, EEG risk, and seizure). EEG risk state is defined by emergence of epileptiform patterns. ResultsThe clinical variables of greatest predictive value were coma (31% had seizures; odds ratio [OR] = 1.8, p < 0.01) and history...

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(19/07/2017 : 01:00)

Ante mortem CSF tau levels correlate with post mortem tau pathology in FTLD  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/07/2017 : 01:00)

Fibrin(ogen) and neurodegeneration in the progressive multiple sclerosis cortex  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/07/2017 : 01:00)

Multimodal image analysis of clinical influences on preterm brain development  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/07/2017 : 01:00)

Neutrophil extracellular traps in ischemic stroke thrombi  Voir?

This study aimed at investigating the presence of neutrophils and more specifically NETs in ischemic stroke thrombi. Methods: Sixty‐eight thrombi retrieved from ischemic stroke patients undergoing endovascular treatment were characterized by immunostaining using neutrophil markers (CD66b and neutrophil elastase) and NETs markers (citrullinated histones H3 (H3Cit) and extracellular DNA). Neutrophils and NETs were quantified. In addition, extracellular DNA was targeted by performing ex vivo lysis of retrieved thrombi with DNase 1 and t‐PA. Results: Neutrophils were detected extensively throughout all thrombi. Citrullinated histones H3 (H3Cit), a hallmark of NETs, were observed in almost all thrombi. H3Cit‐positive area varied up to 13.45% of total thrombus area. Co‐localization of H3...

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(11/07/2017 : 01:00)

Fletcher H. McDowell, MD, 1923 –2017  Voir?

(Source: Annals of Neurology)
(10/07/2017 : 01:00)

Corrigendum  Voir?

(Source: Annals of Neurology)
(07/07/2017 : 01:00)

Microbleeds in the SPS3 Trial: Stroke, Mortality and Treatment Interactions  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(06/07/2017 : 01:00)

MMP9 is decreased in natalizumab ‐treated MS patients at risk for PML  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(06/07/2017 : 01:00)

Time ‐Dependent Risk of Seizures in Critically Ill Patients on Continuous EEG  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(06/07/2017 : 01:00)

Familial mesial temporal lobe epilepsy and the borderland of d éjà vu  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(06/07/2017 : 01:00)

Issue Information ‐ Masthead  Voir?

(Source: Annals of Neurology)
(20/06/2017 : 01:00)

Issue Information ‐ TOC  Voir?

(Source: Annals of Neurology)
(20/06/2017 : 01:00)

Issue Information ‐ Copyright  Voir?

(Source: Annals of Neurology)
(20/06/2017 : 01:00)

Annals of Neurology: Volume 81, Number 6, June 2017  Voir?

ON THE COVER: A schematic drawing showing the components of the peripheral sensory neuron that are vulnerable to injuries that cause neuropathy in patients being treated with chemotherapy for cancer. These include the dorsal root ganglion cell body (large blue cell with a magenta nucleus), ion channels (blue protein inserted in the axon membrane at myelin nodes), microtubules (coiled yellow and blue protein in the axon), mitochondria (brown intraxonal organelles with blue interior), nerve terminals innervating skin, and attack by inflammatory cells (purple and blue cells with blue arrow). See Staff and colleagues, pages 772–781, for details. (Source: Annals of Neurology)

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(20/06/2017 : 01:00)

Structural plasticity of the ventral stream and aphasia recovery  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/06/2017 : 01:00)

Expanded phenotypes and outcomes among 256 LGI1/CASPR2 ‐IgG positive patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/06/2017 : 01:00)

Gene Therapy Decreases Seizures in a Model of Incontinentia Pigmenti  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/06/2017 : 01:00)

Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations  Voir?

This study investigated whether pyrimethamine lowered SOD1 levels in the cerebrospinal fluid (CSF) in patients carrying SOD1 mutations linked to familial amyotrophic lateral sclerosis (fALS/SOD1). MethodsA multicenter (5 sites), open‐label, 9‐month‐duration, dose‐ranging study was undertaken to determine the safety and efficacy of pyrimethamine to lower SOD1 levels in the CSF in fALS/SOD1. All participants underwent 3 lumbar punctures, blood draw, clinical assessment of strength, motor function, quality of life, and adverse effect assessments. SOD1 levels were measured in erythrocytes and CSF. Pyrimethamine was measured in plasma and CSF. Appel ALS score, ALS Functional Rating Scale–Revised, and McGill Quality of Life Single‐Item Scale were measured at screening, visit 6, and v...

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(09/06/2017 : 01:00)

Computed tomographic perfusion to Predict Response to Recanalization in ischemic stroke  Voir?

ObjectiveTo assess the utility of computed tomographic (CT) perfusion for selection of patients for endovascular therapy up to 18 hours after symptom onset. MethodsWe conducted a multicenter cohort study of consecutive acute stroke patients scheduled to undergo endovascular therapy within 90 minutes after a baseline CT perfusion. Patients were classified as “target mismatch” if they had a small ischemic core and a large penumbra on their baseline CT perfusion. Reperfusion was defined as >50% reduction in critical hypoperfusion between the baseline CT perfusion and the 36‐hour follow‐up magnetic resonance imaging. ResultsOf the 201 patients enrolled, 190 patients with an adequate baseline CT perfusion study who underwent angiography were included (mean age = 66 years, median ...

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(09/06/2017 : 01:00)

Subthalamic nucleus deep brain stimulation is neuroprotective in the A53T α‐synuclein Parkinson's disease rat model  Voir?

ObjectiveDeep brain stimulation (DBS) of the subthalamic nucleus (STN) is a highly effective symptomatic therapy for motor deficits in Parkinson's disease (PD). An additional, disease‐modifying effect has been suspected from studies in toxin‐based PD animal models, but these models do not reflect the molecular pathology and progressive nature of PD that would be required to evaluate a disease‐modifying action. Defining a disease‐modifying effect could radically change the way in which DBS is used in PD. MethodsWe applied STN‐DBS in an adeno‐associated virus (AAV) 1/2‐driven human mutated A53T α‐synuclein (aSyn)‐overexpressing PD rat model (AAV1/2‐A53T‐aSyn). Rats were injected unilaterally, in the substantia nigra (SN), with AAV1/2‐A53T‐aSyn or control vector. Th...

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(09/06/2017 : 01:00)

Epileptic networks in action: Synchrony between distant hemodynamic responses  Voir?

This study proves that iEEG activity is synchronized between these regions of hemodynamic response, thus demonstrating the existence of an actual neuronally‐based interictal epileptic network. This also validates the EEG‐fMRI approach to reveal this network non‐invasively. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(06/06/2017 : 01:00)

Reply to “Pure autonomic failure vs. Manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers”  Voir?

(Source: Annals of Neurology)
(05/06/2017 : 01:00)

Letter on “Natural history of pure autonomic failure: A United States prospective cohort”  Voir?

(Source: Annals of Neurology)
(05/06/2017 : 01:00)

The missing, the short, and the long: Levodopa responses and dopamine actions  Voir?

(Source: Annals of Neurology)
(05/06/2017 : 01:00)

Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies  Voir?

Brains from patients with Parkinson disease or dementia with Lewy bodies show aggregation of alpha‐synuclein in precerebellar brainstem structures. Furthermore, patients exhibit resting tremor, unstable gait, and impaired balance, which may be associated with cerebellar dysfunction. Therefore, we screened the cerebella of 12 patients with alpha‐synucleinopathies for neuropathological changes. Cerebellar nuclei and neighboring white matter displayed numerous aggregates, whereas lobules were mildly affected. Cerebellar aggregation pathology may suggest a prionlike spread originating from affected precerebellar structures, and the high homogeneity between patients with dementia with Lewy bodies and Parkinson disease shows that both diseases likely belong to the same neuropathological spec...

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(02/06/2017 : 01:00)

Reply to “Rigor, reproducibility and in vitro CSF assays: The devil in the details”  Voir?

(Source: Annals of Neurology)
(02/06/2017 : 01:00)

Polygenic Risk Score Analysis of Pathologically Confirmed Alzheimer's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2017 : 01:00)

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2017 : 01:00)

Brain microvascular injury and white matter disease provoked by diabetes ‐associated hyperamylinemia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2017 : 01:00)

Timing Is Everything: Where Status Epilepticus Treatment Fails  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2017 : 01:00)

A Novel Cause of Chronic Viral Meningoencephalitis: Cache Valley Virus  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2017 : 01:00)

Rigor, reproducibility, and in vitro cerebrospinal fluid assays: The devil in the details  Voir?

(Source: Annals of Neurology)
(01/06/2017 : 01:00)

Reduced glial activity after surgery: A sign of immunoparalysis of the brain?  Voir?

(Source: Annals of Neurology)
(26/05/2017 : 01:00)

Phenobarbital and Midazolam Increase Neonatal Seizure ‐Associated Neuronal Injury  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/05/2017 : 01:00)

Differential Neuronal Susceptibility and Apoptosis in Congenital ZIKV Infection  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/05/2017 : 01:00)

The genetic landscape of familial congenital hydrocephalus  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/05/2017 : 01:00)

Decreased plasma β‐amyloid in the Alzheimer's disease APP A673T variant carriers  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/05/2017 : 01:00)

A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/05/2017 : 01:00)

Blood biomarkers of carbohydrate, lipid, and apolipoprotein metabolisms and risk of amyotrophic lateral sclerosis: A more than 20 ‐year follow‐up of the Swedish AMORIS cohort  Voir?

ObjectiveTo assess the associations of blood biomarkers of carbohydrate, lipid, and apolipoprotein metabolisms with the future risk of amyotrophic lateral sclerosis (ALS). MethodsIn the Apolipoprotein‐related MOrtality RISk study, we enrolled 636,132 men and women during 1985–1996 in Stockholm, Sweden, with measurements of serum glucose, total cholesterol, triglycerides, apolipoprotein B (apoB), and apolipoprotein A‐I (apoA‐I). Serum low‐density lipoprotein cholesterol (LDL‐C) and high‐density lipoprotein cholesterol (HDL‐C) were either directly measured or calculated from total cholesterol, triglycerides, and apoA‐I. The cohort was followed until the end of 2011. We used Cox models and mixed‐effects models to, first, estimate the associations between these biomarkers a...

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(23/05/2017 : 01:00)

Tailoring epilepsy surgery with fast ripples in the intraoperative electrocorticogram  Voir?

ObjectiveIntraoperative electrocorticography (ECoG) can be used to delineate the resection area in epilepsy surgery. High‐frequency oscillations (HFOs; 80–500 Hz) seem better biomarkers for epileptogenic tissue than spikes. We studied how HFOs and spikes in combined pre‐ and postresection ECoG predict surgical outcome in different tailoring approaches. MethodsWe, retrospectively, marked HFOs, divided into fast ripples (FRs; 250–500 Hz) and ripples (80–250 Hz), and spikes in pre‐ and postresection ECoG sampled at 2,048 Hz in people with refractory focal epilepsy. We defined four groups of electroencephalography (EEG) event occurrence: pre+post− (+/−), pre+post+ (+/+), pre−post+ (−/+) and pre−post− (−/−). We subcategorized three tailoring approaches: hippocampecto...

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(23/05/2017 : 01:00)

Randomized clinical trial of deep brain stimulation for poststroke pain  Voir?

ObjectiveThe experience with deep brain stimulation (DBS) for pain is largely based on uncontrolled studies targeting the somatosensory pathways, with mixed results. We hypothesized that targeting limbic neural pathways would modulate the affective sphere of pain and alleviate suffering. MethodsWe conducted a prospective, double‐blinded, randomized, placebo‐controlled, crossover study of DBS targeting the ventral striatum/anterior limb of the internal capsule (VS/ALIC) in 10 patients with poststroke pain syndrome. One month after bilateral DBS, patients were randomized to active DBS or sham for 3 months, followed by crossover for another 3‐month period. The primary endpoint was a ≥50% improvement on the Pain Disability Index in 50% of patients with active DBS compared to sham. This...

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(23/05/2017 : 01:00)

Issue Information ‐ Masthead  Voir?

(Source: Annals of Neurology)
(23/05/2017 : 01:00)

Issue Information ‐ TOC  Voir?

(Source: Annals of Neurology)
(23/05/2017 : 01:00)

Issue Information ‐ Copyright  Voir?

(Source: Annals of Neurology)
(23/05/2017 : 01:00)

Annals of Neurology: Volume 81, Number 5, May 2017  Voir?

ON THE COVER: An electron photomicrograph of an oligodendrocyte (dark cell in the middle) in a rat with a mutation in TUBB4A, which encodes β‐tubulin. These rats show accumulation of microtubules throughout the cytoplasm as well as arrays along the endoplasmic reticulum of oligodendrocytes, as can be seen in the cytoplasm ringing the nucleus of this cell. The oligodendrocyte is surrounded by hypomyelinated and demyelinated axons, which are also seen in many patients with mutations in TUBB4A. See Duncan et al, pp. 690–702, this issue. (Source: Annals of Neurology)

... / ... Lire la suite

(23/05/2017 : 01:00)

Fletcher H. McDowell MD 1923 ‐2017  Voir?

(Source: Annals of Neurology)
(22/05/2017 : 01:00)

The Missing, The Short, and The Long: L ‐Dopa Responses and Dopamine Actions  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/05/2017 : 01:00)

Neuroimaging Biomarkers and Impaired Olfaction in Cognitively Normal Individuals  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/05/2017 : 01:00)

Erratum  Voir?

(Source: Annals of Neurology)
(16/05/2017 : 01:00)

Chemotherapy ‐Induced Peripheral Neuropathy: A Current Review  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(09/05/2017 : 01:00)

Nonpublication of Trial Results for New Neurological Drugs: A Systematic Review  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(09/05/2017 : 01:00)

Pure autonomic failure vs. manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers  Voir?

(Source: Annals of Neurology)
(04/05/2017 : 01:00)

Lewis P. Rowland, MD: 1925 –2017  Voir?

(Source: Annals of Neurology)
(04/05/2017 : 01:00)

Focused ultrasound as a novel strategy for Alzheimer disease therapeutics  Voir?

(Source: Annals of Neurology)
(04/05/2017 : 01:00)

Low normal cerebrospinal fluid A β42 levels predict clinical progression in nondemented subjects  Voir?

We studied whether continuous lower normal cerebrospinal fluid (CSF) amyloid β1‐42 (≥640pg/ml) levels were related with rate of clinical progression in a sample of 393 nondemented memory clinic patients. Lower normal levels were associated with faster clinical progression, and this depended on baseline cognitive status (subjective cognitive decline: hazard ratio [HR] = 0.57, p < 0.05; mild cognitive impairment: HR = 0.19, p < .01), indicating that normal CSF amyloid levels do not exclude incident Alzheimer disease. These findings suggest that research on preclinical markers for Alzheimer disease should take the continuum of CSF amyloid β1‐42 levels within the normal range into account. Ann Neurol 2017 (Source: Annals of Neurology)

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(04/05/2017 : 01:00)

Rabies Tracing of Birthdated Dentate Granule Cells in Rat Temporal Lobe Epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/05/2017 : 01:00)

Early prediction of coma recovery after cardiac arrest with blinded pupillometry  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/05/2017 : 01:00)

STN ‐DBS is neuroprotective in the A53T α‐synuclein Parkinson's disease rat model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/05/2017 : 01:00)

Sublethal oligodendrocyte injury: A reversible condition in multiple sclerosis?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/05/2017 : 01:00)

Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72 ‐associated amyotrophic lateral sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2017 : 01:00)

Cutaneous Nerve Biomarkers in Transthyretin Familial Amyloid Polyneuropathy  Voir?

Conclusion: Cutaneous amyloid was detected in 70% of TTR‐FAP and 20% of TTR‐noPN subjects. Amyloid burden correlated strongly with reductions in IENFD, SGNFD, PMNFD and NIS‐LL. Skin is an attractive tissue to establish an amyloid diagnosis and amyloid burden has potential as a biomarker to detect treatment effect in TTR‐FAP drug trials. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(01/05/2017 : 01:00)

Connectivity predicts deep brain stimulation outcome in Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2017 : 01:00)

Serum IGF ‐I levels are associated with improved white matter recovery after TBI  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2017 : 01:00)

Sodium intake and multiple sclerosis activity and progression in BENEFIT  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2017 : 01:00)

Prognostic indicators in pediatric clinically isolated syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/04/2017 : 01:00)

Involvement of the cerebellum in Parkinson's disease and Dementia with Lewy bodies  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/04/2017 : 01:00)

Rigor, Reproducibility and in vitro CSF assays: The Devil in the Details  Voir?

(Source: Annals of Neurology)
(25/04/2017 : 01:00)

Blood biomarkers of carbohydrate, lipid and apolipoprotein metabolisms and risk of amyotrophic lateral sclerosis: A more than 20 year follow ‐up of the Swedish AMORIS cohort  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/04/2017 : 01:00)

Multiple sclerosis broke my heart  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/04/2017 : 01:00)

Pathogenic role of anti –signal recognition protein and anti–3‐Hydroxy‐3‐methylglutaryl‐CoA reductase antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies  Voir?

ObjectiveImmune‐mediated necrotizing myopathies (IMNM) may be associated with either anti–signal recognition protein (SRP) or anti–3‐hydroxy‐3‐methylglutaryl‐CoA reductase (HMGCR) antibodies (Abs), and the titer of these Abs is correlated with disease activity. We investigated whether anti‐SRP and anti‐HMGCR Abs could be involved in muscle damage. MethodsMuscle biopsies of patients were analyzed for atrophy and regeneration by measuring fiber size and by performing immunostaining of neonatal myosin heavy chain. To further understand the role of the Abs in the pathology, we performed muscle cell coculture with the Abs. Atrophy and regeneration were evaluated based on the myotube surface area as well as gene and cytokine profiles. ResultsIn muscle biopsies of patients with ...

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(22/04/2017 : 01:00)

Issue Information ‐ Masthead  Voir?

(Source: Annals of Neurology)
(22/04/2017 : 01:00)

Issue Information ‐ TOC  Voir?

(Source: Annals of Neurology)
(22/04/2017 : 01:00)

Issue Information ‐ Copyright  Voir?

(Source: Annals of Neurology)
(22/04/2017 : 01:00)

Annals of Neurology: Volume 81, Number 4, April 2017  Voir?

ON THE COVER: A photomicrograph of neuromuscular junctions in a normal control mouse triangular sterni muscle. Acetylcholine receptors on the postsynaptic membrane are stained red with alphabungarotoxin, and the motor axons are stained green with neurofilament NF150 and synaptotagmin‐2 antibodies. In mice with mutations of the Vamp1 (vesicle associated membrane protein 1), which causes a congenital myasthenic syndrome similar to humans, the neuromuscular junctions are smaller. See Salpietro et al, pp. 597‐603, this issue. Ann Neurol 2017;81:1–1 (Source: Annals of Neurology)

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(22/04/2017 : 01:00)

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/04/2017 : 01:00)

Are midsagittal tissue bridges predictive of outcome after cervical spinal cord injury?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/04/2017 : 01:00)

Fluorodeoxyglucose metabolism associated with tau ‐amyloid interaction predicts memory decline  Voir?

ObjectiveThe aim of this article was to evaluate in normal older adults and preclinical Alzheimer's disease (AD) the impact of amyloid and regional tauopathy on cerebral glucose metabolism and subsequent memory decline. MethodsWe acquired positron emission tomography using F18 flortaucipir (tau), C11 Pittsburgh compound B (amyloid), and F18 fluorodeoxyglucose in 90 clinically normal elderly of the Harvard Aging Brain Study. ResultsPosterior cingulate metabolism decreased when both amyloid and neocortical tau were high and predicted subsequent memory decline in a larger sample of normal elderly. In contrast, frontal hypometabolism related to the common age‐related entorhinal tauopathy, but this dysfunction was independent of amyloid, and did not predict significant memory decline. Neocort...

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(06/04/2017 : 01:00)

Tailoring epilepsy surgery with fast ripples in the intra ‐operative electrocorticogram  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(05/04/2017 : 01:00)

Randomized clinical trial of deep brain stimulation for post ‐stroke pain  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(05/04/2017 : 01:00)

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(05/04/2017 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(04/04/2017 : 01:00)

Computed tomography –based acute stroke lesion timing and patient stratification  Voir?

(Source: Annals of Neurology)
(04/04/2017 : 01:00)

Pathomechanisms of anti –cytosolic 5′‐nucleotidase 1A autoantibodies in sporadic inclusion body myositis  Voir?

This study investigated the pathogenic properties of anti‐cN1A autoantibodies in sIBM pathogenesis. MethodsWe developed a cell‐based assay to detect anti‐cN1A autoantibodies, which we found in serum from patients with neuromuscular diseases including sIBM. We also investigated the clinicopathological differences between sIBM patients with and without the autoantibodies. We used passive in vitro and in vivo immunization models to evaluate the pathogenic role of the autoantibodies. ResultsOf 67 patients with sIBM, 24 (35.8%) possessed anti‐cN1A autoantibodies as determined via our cell‐based assay. In the anti‐cN1A–positive group, the percentage of patients with hepatitis C virus antibodies was significantly lower and the mean area of type 2 myofibers was significantly smaller ...

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(03/04/2017 : 01:00)

The repetition of behavioral assessments in diagnosis of disorders of consciousness  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2017 : 01:00)

Serum neurofilament light: A biomarker of neuronal damage in multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2017 : 01:00)

CT Perfusion to Predict Response to Recanalization in Ischemic Stroke  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2017 : 01:00)

Pyrimethamine Significantly Lowers CSF/SOD1 in ALS Patients With SOD1 Mutations  Voir?

This study investigated whether pyrimethamine lowered SOD1 levels in the cerebrospinal fluid (CSF) in patients carrying SOD1 mutations linked to ALS (fALS/SOD1). Methods and Study Design: Multicenter (5 sites), open‐label, 9‐month duration, dose‐ranging, to determine safety and efficacy of pyrimethamine to lower SOD1 levels in the CSF of FALS/SOD1. All participants underwent 3 lumbar punctures, blood draw, clinical assessment of strength, motor function, quality of life, and adverse effects assessments. SOD1 levels were measured in erythrocytes and CSF. Pyrimethamine was measured in plasma and CSF. Appel ALS, ALSFRS‐R and single item McGill Quality of Life (SIS‐MQoL) were measured at screening, visit 6 and 9. Results: We enrolled 32 patients; 24 completed 6 visits (18 weeks) an...

... / ... Lire la suite

(01/04/2017 : 01:00)

Letter on “Natural history of pure autonomic failure: A United States prospective cohort.”  Voir?

(Source: Annals of Neurology)
(01/04/2017 : 01:00)

Viral Tracing of Presynaptic Inputs to Newly Born Dentate Granule Cells in a Rodent Model of mesial Temporal Lobe Epilepsy  Voir?

(Source: Annals of Neurology)
(01/04/2017 : 01:00)

Brain Regions Essential for Word Comprehension: Drawing Inferences from Patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2017 : 01:00)

Confirmation of absence of GABA ‐A receptor potentiation in idiopathic hypersomnia  Voir?

(Source: Annals of Neurology)
(01/04/2017 : 01:00)

Lewis P. Rowland, MD 1925 ‐ 2017  Voir?

(Source: Annals of Neurology)
(01/04/2017 : 01:00)

Issue Information ‐ Masthead  Voir?

(Source: Annals of Neurology)
(25/03/2017 : 00:00)

Issue Information ‐ TOC  Voir?

(Source: Annals of Neurology)
(25/03/2017 : 00:00)

Issue Information ‐ Copyright  Voir?

(Source: Annals of Neurology)
(25/03/2017 : 00:00)

Annals of Neurology: Volume 81, Number 3, March 2017  Voir?

ON THE COVER: Fluorescence photomicrograph of muscle from a normal subject, immunostained red for alpha‐actinin and green for myopalladin. Myopalladin is a protein in the Z‐line of striated muscle that contributes to sarcomere integrity and in which mutations can cause cap myopathy with nemaline rods. See Lornage et al., on pages 467–473 of this issue. (Source: Annals of Neurology)

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(25/03/2017 : 00:00)

Language functional MRI and direct cortical stimulation in epilepsy preoperative planning  Voir?

ObjectivePresurgical language assessment can help minimize damage to eloquent cortex during resective epilepsy surgery. Two methods for presurgical language mapping are functional MRI (fMRI) and direct cortical stimulation (DCS) of implanted subdural electrodes. We compared fMRI results to DCS to help optimize noninvasive language localization and assess its validity. MethodsWe studied 19 patients referred for presurgical evaluation of drug‐resistant epilepsy. Patients completed four language tasks during preoperative fMRI. After subdural electrode implantation, we used DCS to localize language areas. For each stimulation site, we determined whether language positive electrode pairs intersected with significant fMRI activity clusters for language tasks. ResultsSensitivity and specificity...

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(22/03/2017 : 00:00)

Blood –brain barrier breakdown in reversible cerebral vasoconstriction syndrome: Implications for pathophysiology and diagnosis  Voir?

ObjectiveDiagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to vasoconstriction, the blood–brain barrier (BBB) breakdown has been postulated as a central mechanism of RCVS. Our aim was to document BBB breakdown in patients with RCVS and its role for the pathophysiology‐based diagnosis of RCVS. MethodsWe prospectively recruited 72 consecutive patients with thunderclap headache who did not have aneurysmal subarachnoid hemorrhage from April 2015 to July 2016 at the Samsung Medical Center. Based on the International Classification of Headache Disorders–3 beta criteria and neuroimaging, patients were classified as having RCVS (n = 41; “definite” in 29 imaging‐proven patients and “proba...

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(19/03/2017 : 23:00)

Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/03/2017 : 23:00)

Pathomechanisms of anti ‐cN1A autoantibodies in sporadic inclusion body myositis  Voir?

This study investigated the pathogenic properties of anti‐cN1A autoantibodies in sIBM pathogenesis. Methods: We developed a cell‐based assay to detect anti‐cN1A autoantibodies, which we found in serum from patients with neuromuscular diseases including sIBM. We also investigated the clinicopathological differences between sIBM patients with and without the autoantibodies. We used passive in vitro and in vivo immunization models to evaluate the pathogenic role of the autoantibodies. Results: Of 67 patients with sIBM, 24 (35.8%) possessed anti‐cN1A autoantibodies as determined via our cell‐based assay. In the anti‐cN1A‐positive group, the percentage of patients with hepatitis C virus antibodies was significantly lower and the mean area of type 2 myofibers was significantly smal...

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(19/03/2017 : 23:00)

Low normal CSF A β42 levels predict clinical progression in non‐demented subjects  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/03/2017 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(14/03/2017 : 23:00)

Obituary: Bruce O. Berg, MD, January 2, 1931 –October 5, 2016  Voir?

(Source: Annals of Neurology)
(14/03/2017 : 23:00)

Olig1 is required for Noggin ‐induced neonatal myelin repair  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2017 : 23:00)

FDG metabolism associated with tau ‐amyloid interaction predicts memory decline  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2017 : 23:00)

The neurology of acutely failing respiratory mechanics  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2017 : 23:00)

Stroke in right dorsal anterior insular cortex is related to myocardial injury  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2017 : 23:00)

Wounded Brain, Ailing Heart: Central autonomic network disruption in acute stroke  Voir?

(Source: Annals of Neurology)
(01/03/2017 : 23:00)

Computed tomography ‐based acute stroke lesion timing and patient stratification  Voir?

(Source: Annals of Neurology)
(01/03/2017 : 23:00)

Global Exosome Transcriptome Profiling Reveals Biomarkers for Multiple Sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2017 : 00:00)

Focused ultrasound as a novel strategy for Alzheimer's disease therapeutics  Voir?

This article describes the rationale and underlying principles of focused ultrasound as applied to Alzheimer's disease and suggests that based on promising pre‐clinical results, this technology, whether alone or in conjunction with targeted therapies, can be of potential benefit. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(01/03/2017 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(22/02/2017 : 23:00)

De novo KCNA2 mutations cause hereditary spastic paraplegia  Voir?

(Source: Annals of Neurology)
(22/02/2017 : 23:00)

Eye ‐tracking–based assessment suggests preserved well‐being in locked‐in patients  Voir?

We assessed quality of life (QoL) and psychological well‐being in patients with amyotrophic lateral sclerosis–induced locked‐in state and their next of kin in a fully unbiased manner using eye‐tracking computer systems. Eleven of 30 screened patients and 9 next of kin completed study procedures. Patients reported good QoL, which appeared to be at the cost of the QoL of their next of kin. Next of kin rated their own or patients’ QoL similarly, but they identified different areas as important as compared with patients. Our results are of importance for the discussion of end‐of‐life decisions and the evaluation of patients’ presumed wishes as well as for psychosocial interventions. Ann Neurol 2017;81:310–315 (Source: Annals of Neurology)

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(22/02/2017 : 23:00)

Glial fibrillary acidic protein immunoglobulin G as biomarker of autoimmune astrocytopathy: Analysis of 102 patients  Voir?

ObjectiveA novel autoimmune central nervous system (CNS) disorder with glial fibrillary acidic protein (GFAP)‐IgG as biomarker was recently characterized. Here, 102 patients with GFAP‐IgG positivity are described. MethodsThe 102 included patients had: (1) serum, cerebrospinal fluid (CSF), or both that yielded a characteristic astrocytic pattern of mouse tissue immunostaining; (2) confirmation of IgG reactive with specific GFAP isoforms (α, ɛ, or κ) by cell‐based assays; and (3) clinical data available. Control specimens (n = 865) were evaluated by tissue (n = 542) and cell‐based (n = 323) assays. ResultsMedian symptom onset age was 44 years (range = 8–103), and 54% were women. The predominant phenotype (83 patients; 81%) was inflammation of meninges, brain, spinal cord, or all...

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(22/02/2017 : 23:00)

Natural history of pure autonomic failure: A United States prospective cohort  Voir?

ObjectiveTo define the clinical features and biomarkers that predict which patients with pure autonomic failure will develop Parkinson disease, dementia with Lewy bodies, or multiple system atrophy. MethodsOne hundred patients who presented with pure autonomic failure were recruited at 5 medical centers in the United States. Seventy‐four patients agreed to be followed prospectively. Patients underwent clinical evaluations including neurological rating scales, sleep questionnaires, smell test, and sympathetic and parasympathetic cardiovascular autonomic function tests. ResultsAt enrollment, patients were 68 ± 12 years old (median ± interquartile range) and had had autonomic failure for 5 ± 7 years. Within 4 years of follow‐up, 25 of 74 subjects (34%) developed dementia wi...

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(22/02/2017 : 23:00)

Pseudofeeders on fetal magnetic resonance imaging predict outcome in vein of Galen malformations  Voir?

This study attempts to determine which fetal brain magnetic resonance imaging (MRI) features might be used to predict the development of these complications at birth. MethodsThe cohort was extracted from a prospectively assembled database of VGAM cases managed at a single referral center from 2000 to 2014. Of 251 patients with VGAM, 83 cases were diagnosed prenatally. A total of 58 patient charts having at least 1 fetal MRI were reviewed. Patterns of brain parenchyma, hydrocephalus, and so‐called middle cerebral artery (MCA) “pseudofeeders” were correlated with cardiac failure, pulmonary hypertension, and encephalomalacia at birth. ResultsThe median gestational age at fetal MRI was 32.3 weeks of pregnancy (±2.3). Nine fetuses (16%) had encephalomalacia. Thirty‐one fetuses (53%) ha...

... / ... Lire la suite

(22/02/2017 : 23:00)

Microtubule ‐associated protein 1B: Novel paraneoplastic biomarker  Voir?

ObjectiveTo report the identification of microtubule‐associated protein (MAP) 1B as the antigen of the previously described Purkinje cell cytoplasmic antibody type 2 (PCA‐2) antibody, its frequency, and clinical, oncological, and serological associations. MethodsArchival serum or cerebrospinal fluid (CSF) specimens were available from 96 of 118 consecutive PCA‐2‐IgG–seropositive patients identified during 1993–2016. The autoantigen, defined in mouse brain lysate by Western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies. The major antigenic region was defined by Western blot using recombinant protein fragments. ResultsIgG in 95 of 96 patients’ serum or CSF (but in none of 98 healthy or disease control subjects’ seru...

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(22/02/2017 : 23:00)

Tract ‐specific atrophy in focal epilepsy: Disease, genetics, or seizures?  Voir?

ObjectiveTo investigate whether genetics, underlying pathology, or repeated seizures contribute to atrophy in specific white matter tracts. MethodsMedically refractory unilateral temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS‐TLE, n = 26) was studied as an archetype of focal epilepsy, using fixel‐based analysis of diffusion‐weighted imaging. A genetic effect was assessed in first‐degree relatives of HS‐TLE subjects who did not have epilepsy themselves (HS‐1°Rel; n = 26). The role of disease process was uncovered by comparing HS‐TLE to unilateral TLE with normal clinical magnetic resonance imaging (MRI‐neg TLE; n = 26, matched for seizure severity). The effect of focal seizures was inferred from lateralized atrophy common to both HS‐TLE and MRI‐...

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(22/02/2017 : 23:00)

Serotonin transporter in Parkinson's disease: A meta ‐analysis of positron emission tomography studies  Voir?

Positron emission tomography (PET) is a powerful analytical tool for in vivo molecular imaging of the human brain. Over the past years, a number of PET studies imaging the serotonin transporter (SERT) have been used and provided evidence for the key role of serotonergic pathology in patients with Parkinson's disease (PD). Here, we review the role of SERT in the development of motor and nonmotor complications in patients with PD, and we performed a meta‐analysis to identify the patterns of SERT pathology and the relevance to symptoms. Consistent SERT pathology in raphe nuclei, striatum, thalamus, and hypothalamus and associations with aging, PD progression, development of dyskinesias, and cognitive decline were observed. Ann Neurol 2017;81:171–180 (Source: Annals of Neurology)

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(22/02/2017 : 23:00)

Issue Information  Voir?

(Source: Annals of Neurology)
(22/02/2017 : 23:00)

Annals of Neurology: Volume 81, Number 2, February 2017  Voir?

(Source: Annals of Neurology)
(22/02/2017 : 23:00)

Pathogenic role of anti ‐SRP and anti‐HMGCR antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/02/2017 : 23:00)

Language fMRI and Direct Cortical Stimulation in Epilepsy Preoperative Planning  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/02/2017 : 23:00)

Identity of the Purkinje cell cytoplasmic antibody type 2 autoantibody antigen is finally revealed  Voir?

(Source: Annals of Neurology)
(13/02/2017 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(12/02/2017 : 23:00)

Blood ‐Brain Barrier Breakdown in Reversible Cerebral Vasoconstriction Syndrome: implications for pathophysiology and diagnosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(12/02/2017 : 23:00)

What is the Pathway Forward for the Surgical Management of Essential Tremor?  Voir?

(Source: Annals of Neurology)
(12/02/2017 : 23:00)

In Reply  Voir?

(Source: Annals of Neurology)
(07/02/2017 : 23:00)

Inclusion Body Myositis Pathogenesis: Steady Progress  Voir?

(Source: Annals of Neurology)
(31/01/2017 : 23:00)

Novel screening for transthyretin amyloidosis by using fat ultrasonography  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/01/2017 : 23:00)

Reply to a Letter to the Editor, related article “Computed tomography based quantification of lesion water uptake identifies patients within 4.5 hours of stroke onset: A multicenter observational study”, observational study” ANN  Voir?

(Source: Annals of Neurology)
(31/01/2017 : 23:00)

Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/01/2017 : 23:00)

Infratentorial superficial siderosis: Classification, diagnostic criteria, and rational investigation pathway  Voir?

Central nervous system infratentorial superficial siderosis (iSS) is increasingly detected by blood‐sensitive magnetic resonance imaging (MRI) sequences. Despite this, there are no standardized diagnostic criteria, and the clinical–radiological spectrum, causes, and optimum investigation strategy are not established. We reviewed clinical and radiological details of patients with iSS assessed at a specialist neurological center during 2004–2016 using predefined standardized radiological criteria. All imaging findings were rated blinded to clinical details. We identified 65 patients with iSS, whom we classified into 2 groups: type 1 (classical) and type 2 (secondary) iSS. Type 1 (classical) iSS included 48 patients without any potentially causal radiologically confirmed single spontane...

... / ... Lire la suite

(27/01/2017 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(26/01/2017 : 23:00)

Regarding “Eteplirsen for the treatment of Duchenne muscular dystrophy”  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

Two patients with TNK2 mutations and late onset infantile spasm  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia  Voir?

ObjectiveExome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age. MethodsWGS from blood‐derived genomic DNA was used for homozygosity mapping and a rare variant search. RNA from isolated blood leukocytes was used for quantitative polymerase chain reaction (PCR), RNA sequencing, and comparison of the transcriptomes of affected and unaffected family members. ResultsWGS revealed a point mutation in noncoding RNA RNU12 that was associated with early onset cerebellar ataxia. The U12‐dependent minor spliceosome edits 879 known transcripts....

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(23/01/2017 : 23:00)

Issue Information  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

Annals of Neurology: Volume 81, Number 1, January 2017  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

New Diagnostic Criteria for Neurocysticercosis: Practical Dilemmas  Voir?

(Source: Annals of Neurology)
(23/01/2017 : 23:00)

GFAP ‐IgG as Biomarker of Autoimmune Astrocytopathy: Analysis of 102 Patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(23/01/2017 : 23:00)

[11C]PBR ‐28 positron emission tomography in multiple sclerosis: Neuroinflammation or otherwise?  Voir?

(Source: Annals of Neurology)
(22/01/2017 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(22/01/2017 : 23:00)

Electrical impedance myography for assessment of Duchenne muscular dystrophy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/01/2017 : 23:00)

Passages 2017  Voir?

(Source: Annals of Neurology)
(10/01/2017 : 23:00)

Eyetracking ‐based assessment suggests preserved wellbeing in locked‐in patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/01/2017 : 23:00)

Robust graft survival and normalized dopaminergic innervation do not obligate recovery in a Parkinson disease patient  Voir?

We report a dichotomy between graft structure and clinical function in a patient dying 16 years following fetal nigral grafting. MethodsA 55‐year‐old levodopa‐responsive woman with PD received bilateral putaminal fetal mesencephalic grafts as part of an NIH‐sponsored double‐blind sham‐controlled trial. The patient never experienced clinical benefit, and her course was complicated by the development of graft‐related dyskinesias. Fluorodopa positron emission tomography demonstrated significant increases postgrafting bilaterally. She experienced worsening of parkinsonism with severe dyskinesias, and underwent subthalamic nucleus deep brain stimulation 8 years after grafting. She died 16 years after transplantation. ResultsPostmortem analyses confirmed the diagnosis of PD and dem...

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(05/01/2017 : 23:00)

The gut microbiome in human neurological disease: A review  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/12/2016 : 23:00)

The Burden of Neurological Disease in the United States: A Summary Report and Call to Action  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/12/2016 : 23:00)

Obituary ‐ Bruce O. Berg MD  Voir?

(Source: Annals of Neurology)
(31/12/2016 : 23:00)

One Step Backward: Magnetic Resonance Guided Focused Ultrasound Thalamotomy for the Treatment of Medically Refractory Tremor  Voir?

(Source: Annals of Neurology)
(31/12/2016 : 23:00)

Phenotypes of early myoclonus do not predict outcome  Voir?

(Source: Annals of Neurology)
(31/12/2016 : 23:00)

Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/12/2016 : 23:00)

The identity of the PCA ‐2 autoantibody antigen is finally revealed  Voir?

(Source: Annals of Neurology)
(31/12/2016 : 23:00)

Diagnostic criteria for neurocysticercosis  Voir?

(Source: Annals of Neurology)
(31/12/2016 : 23:00)

Caffeine alleviates progressive motor deficits in a transgenic mouse model of spinocerebellar ataxia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(28/12/2016 : 23:00)

De ‐novo KCNA2 mutations cause hereditary spastic paraplegia  Voir?

(Source: Annals of Neurology)
(28/12/2016 : 23:00)

Successful management of super ‐refractory status epilepticus with thalamic deep brain stimulation  Voir?

We report a case of a 17‐year‐old boy with a prolonged super‐refractory status epilepticus that eventually resolved after commencing deep brain stimulation of the centromedian nucleus of the thalamus. Later attempt to reduce stimulation parameters resulted in immediate relapse of status epilepticus, suggesting a pivotal role of deep brain stimulation in the treatment response. Deep brain stimulation may be a treatment option in super‐refractory status epilepticus when other treatment options have failed. Ann Neurol 2016 (Source: Annals of Neurology)

... / ... Lire la suite

(27/12/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(27/12/2016 : 23:00)

Adaptive working memory training improved brain function in human immunodeficiency virus –seropositive patients  Voir?

ObjectiveWe aimed to evaluate the effectiveness of an adaptive working memory (WM) training (WMT) program, the corresponding neural correlates, and LMX1A‐rs4657412 polymorphism on the adaptive WMT, in human immunodeficiency virus (HIV) participants compared to seronegative (SN) controls. MethodsA total of 201 of 206 qualified participants completed baseline assessments before randomization to 25 sessions of adaptive WMT or nonadaptive WMT. A total of 74 of 76 (34 HIV, 42 SN) completed adaptive WMT and all 40 completed nonadaptive WMT (20 HIV, 20 SN) and were assessed after 1 month, and 55 adaptive WMT participants were also assessed after 6 months. Nontrained near‐transfer WM tests (Digit‐Span, Spatial‐Span), self‐reported executive functioning, and functional magnetic resonance ...

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(27/12/2016 : 23:00)

Anti ‐LGI1 encephalitis is strongly associated with HLA‐DR7 and HLA‐DRB4  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/12/2016 : 23:00)

Emerging therapies and challenges in Spinal Muscular Atrophy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/12/2016 : 23:00)

The major histocompatibility complex and antibody ‐mediated limbic encephalitis  Voir?

(Source: Annals of Neurology)
(26/12/2016 : 23:00)

Serotonin transporter in Parkinson's disease: A meta ‐analysis of PET studies  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/12/2016 : 23:00)

KCNA2 mutations are rare in hereditary spastic paraplegia  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas  Voir?

This study identifies a common cause for intraneural perineuriomas and an unexpected shared pathogenesis with intracranial meningiomas. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/12/2016 : 23:00)

Reply to Gan ‐Or and colleagues and Manole and colleagues  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Developing a Successful Global Neurology Program  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Infratentorial superficial siderosis: Classification, diagnostic criteria and rational investigation pathway  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/12/2016 : 23:00)

The melanoma ‐linked “redhead” MC1R influences dopaminergic neuron survival  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/12/2016 : 23:00)

Do repetitive Valsalva maneuvers reduce glymphatic clearance?  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

[11C]PBR ‐28 PET in multiple sclerosis: Neuroinflammation or otherwise?  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Reply to “Do repetitive Valsalva maneuvers reduce glymphatic clearance?”  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Simvastatin is associated with decreased risk of Parkinson Disease  Voir?

(Source: Annals of Neurology)
(25/12/2016 : 23:00)

Lesions causing freezing of gait localize to a cerebellar functional network  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/12/2016 : 23:00)

Cytokine therapy ‐mediated neuroprotection in a Friedreich's ataxia mouse model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/12/2016 : 23:00)

Tract ‐specific atrophy in focal epilepsy: disease, genetics or seizures?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/12/2016 : 23:00)

Computed tomography –based quantification of lesion water uptake identifies patients within 4.5 hours of stroke onset: A multicenter observational study  Voir?

ObjectiveMany patients with stroke cannot receive intravenous thrombolysis because the time of symptom onset is unknown. We tested whether computed tomography (CT)‐based quantification of water uptake in the ischemic tissue can identify patients with stroke onset within 4.5 hours, the time window of thrombolysis. MethodsPerfusion CT was used to identify ischemic brain tissue, and its density was measured in native CT and related to the density of the corresponding area of the contralateral hemisphere to quantify lesion water uptake. The optimal cutoff value of water uptake distinguishing stroke onset within and beyond 4.5 hours was calculated in patients with proximal middle cerebral artery occlusion (derivation cohort) with known time of symptom onset. The so‐derived cutoff value was ...

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(20/12/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(20/12/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(20/12/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(20/12/2016 : 23:00)

Annals of Neurology: Volume 80, Number 6, December 2016  Voir?

(Source: Annals of Neurology)
(20/12/2016 : 23:00)

Brain Mechanisms of Abnormal Temperature Perception in Cold Allodynia induced by Ciguatoxin  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/12/2016 : 23:00)

Regarding eteplirsen for the treatment of Duchenne muscular dystrophy  Voir?

(Source: Annals of Neurology)
(19/12/2016 : 23:00)

Developmental changes in neuromagnetic rhythms and network synchrony in autism  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(14/12/2016 : 23:00)

Leigh Map: A Novel Computational Diagnostic Resource for Mitochondrial Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(14/12/2016 : 23:00)

Two patients with TNK2 mutations and late ‐onset infantile spasm  Voir?

(Source: Annals of Neurology)
(14/12/2016 : 23:00)

Human spinal ejaculation generator  Voir?

ObjectiveA spinal ejaculation generator (SEG) has been identified in the rat with lumbar galaninergic interneurons playing a pivotal role (Science 2002;297:1566–1569). The aim was to evidence a SEG in humans. MethodsSpatial distribution of galaninergic neurons was studied in postmortem spinal cord segments of 6 men and compared with that of 6 women for evidencing sexual dimorphism. Based on the identified segmental distribution of galaninergic neurons, the ability for penile vibratory stimulation (PVS) to elicit ejaculation when the concerned spinal segments were injured was studied in 384 patients with clinically complete spinal cord injury (SCI) and consequent anejaculation. Such patients represent a unique model to investigate the role of defined spinal segments in the control of ejac...

... / ... Lire la suite

(04/12/2016 : 23:00)

The Natural History of Pure Autonomic Failure: a U.S. Prospective Cohort  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/11/2016 : 23:00)

“Pseudo‐feeders” on fetal MRI predict outcome in vein of Galen malformations  Voir?

This study attempts to determine which fetal brain MRI features might be used to predict the development of these complications at birth. Methods: The cohort was extracted from a prospectively‐assembled database of VGAM cases managed at a single referral centre from 2000 to 2014. Of 251 patients with VGAM, 83 cases were diagnosed prenatally. A total of 58 patient charts having at least one fetal MRI were reviewed. Patterns of brain parenchyma, hydrocephalus and so‐called middle cerebral artery (MCA) “pseudo‐feeders” were correlated with cardiac failure, pulmonary hypertension and encephalomalacia at birth. Results: The median gestational age at fetal MRI was 32.3 WP (±2.3). Nine fetuses (16%) had encephalomalacia. Thirty‐one fetuses (53%) had MCA pseudo‐feeders. Twenty‐six...

... / ... Lire la suite

(30/11/2016 : 23:00)

Microtubule Associated Protein (MAP) 1B: Novel Paraneoplastic Biomarker Running head: MAP 1B ‐IgG: novel paraneoplastic biomarker  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/11/2016 : 23:00)

Is This Significant?  Voir?

(Source: Annals of Neurology)
(30/11/2016 : 23:00)

11C ‐PBR28 increase in multiple sclerosis reflects neuroinflammation  Voir?

(Source: Annals of Neurology)
(30/11/2016 : 23:00)

Reply to “Simvastatin is associated with decreased risk of Parkinson Disease” by Brage Brakedal  Voir?

(Source: Annals of Neurology)
(30/11/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(29/11/2016 : 23:00)

Repeat ‐associated non‐AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome  Voir?

ObjectiveRepeat‐associated non‐AUG (RAN) translation drives production of toxic proteins from pathogenic repeat sequences in multiple untreatable neurodegenerative disorders. Fragile X‐associated tremor/ataxia syndrome (FXTAS) is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5′ leader sequence of the FMR1 gene. RAN proteins from the CGG repeat accumulate in ubiquitinated inclusions in FXTAS patient brains and elicit toxicity. In addition to the CGG repeat, an antisense mRNA containing a CCG repeat is also transcribed from the FMR1 locus. We evaluated whether this antisense CCG repeat supports RAN translation and contributes to pathology in FXTAS patients. MethodsWe generated a series of CCG RAN translation‐specific reporters and utilized them to m...

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(25/11/2016 : 23:00)

Reply to “Is command following unrelated to top‐down attention in consciousness disorders?”  Voir?

(Source: Annals of Neurology)
(21/11/2016 : 23:00)

Cerebral white matter abnormalities in patients with Charcot ‐Marie‐Tooth disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/11/2016 : 23:00)

Mutation in non ‐coding RNA, RNU12 causes early‐onset cerebellar ataxia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/11/2016 : 23:00)

Ambroxol effects in glucocerebrosidase and α‐synuclein transgenic mice  Voir?

This study investigated the effect of ambroxol treatment on glucocerebrosidase activity and on α‐synuclein and phosphorylated α‐synuclein protein levels in mice. MethodsMice were treated with ambroxol for 12 days. After the treatment, glucocerebrosidase activity was measured in the mouse brain lysates. The brain lysates were also analyzed for α‐synuclein and phosphorylated α‐synuclein protein levels. ResultsAmbroxol treatment resulted in increased brain glucocerebrosidase activity in (1) wild‐type mice, (2) transgenic mice expressing the heterozygous L444P mutation in the murine glucocerebrosidase 1 gene, and (3) transgenic mice overexpressing human α‐synuclein. Furthermore, in the mice overexpressing human α‐synuclein, ambroxol treatment decreased both α‐synuclein a...

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(17/11/2016 : 23:00)

Glucocerebrosidase, Parkinson disease, and the “senses and intellect”  Voir?

(Source: Annals of Neurology)
(17/11/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(17/11/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(17/11/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(17/11/2016 : 23:00)

Annals of Neurology: Volume 80, Number 5, November 2016  Voir?

(Source: Annals of Neurology)
(17/11/2016 : 23:00)

Differentiating Lance –Adams syndrome from other forms of postanoxic myoclonus  Voir?

(Source: Annals of Neurology)
(13/11/2016 : 23:00)

Cutaneous malignant melanoma and Parkinson disease: Common pathways?  Voir?

The mechanisms underlying the high prevalence of cutaneous malignant melanoma (CMM) in Parkinson disease (PD) are unclear, but plausibly involve common pathways. 129Ser‐phosphorylated α‐synuclein, a pathological PD hallmark, is abundantly expressed in CMM, but not in normal skin. In inherited PD, PARK genes harbor germline mutations; the same genes are somatically mutated in CMM, or their encoded proteins are involved in melanomagenesis. Conversely, genes associated with CMM affect PD risk. PD/CMM‐targeted cells share neural crest origin and melanogenesis capability. Pigmentation gene variants may underlie their susceptibility. We review putative genetic intersections that may be suggestive of shared pathways in neurodegeneration/melanomagenesis. Ann Neurol 2016 (Source: Annals of N...

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(13/11/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(11/11/2016 : 23:00)

Malformations of cortical development  Voir?

(MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs. Ann Neurol 2016 (Source: Annals of Neurology)

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(10/11/2016 : 23:00)

Computed tomography based quantification of lesion water uptake identifies patients within 4.5 hours of stroke onset: A multicenter observational study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(06/11/2016 : 23:00)

Efficacy of phosphodiesterase ‐4 inhibitors in juvenile Batten disease (CLN3)  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/11/2016 : 23:00)

Intestinal pseudo ‐obstruction in mitochondrial diseases  Voir?

(Source: Annals of Neurology)
(01/11/2016 : 23:00)

Eteplirsen improves function and partially restores dystrophin  Voir?

(Source: Annals of Neurology)
(31/10/2016 : 23:00)

Reply to Two patients with TNK2 mutations and late ‐onset infantile spasm  Voir?

(Source: Annals of Neurology)
(31/10/2016 : 23:00)

Robust graft survival and normalized dopaminergic innervation does not obligate recovery in a pd patient  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/10/2016 : 23:00)

Efficacy and safety of combined intraventricular fibrinolysis with lumbar drainage for prevention of permanent shunt dependency after intracerebral hemorrhage with severe ventricular involvement: A randomized trial and individual patient data meta ‐analysis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/10/2016 : 23:00)

Is command following unrelated to top ‐down attention in consciousness disorders?  Voir?

(Source: Annals of Neurology)
(31/10/2016 : 23:00)

Elevated cerebrospinal fluid C ‐X‐C motif chemokine 10: Commonalities in paraneoplastic neurological disorders  Voir?

(Source: Annals of Neurology)
(24/10/2016 : 23:00)

Isoflurane prevents acquired epilepsy in rat models of temporal lobe epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/10/2016 : 23:00)

Adaptive Working Memory Training Improved Brain Function in HIV ‐Seropositive Patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/10/2016 : 23:00)

RAN translation from antisense CCG repeats in Fragile X Tremor/Ataxia Syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/10/2016 : 23:00)

Cutaneous malignant melanoma and Parkinson's disease: common pathways?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/10/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(18/10/2016 : 23:00)

Erythropoietin for Neuroprotection in preterm infants  Voir?

(Source: Annals of Neurology)
(18/10/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(18/10/2016 : 23:00)

Reply to Comments on Broca's 1861 case of aphasia  Voir?

(Source: Annals of Neurology)
(16/10/2016 : 23:00)

45th Annual Meeting of the Child Neurology Society  Voir?

(Source: Annals of Neurology)
(13/10/2016 : 23:00)

141st Annual Meeting of the American Neurological Association  Voir?

(Source: Annals of Neurology)
(13/10/2016 : 23:00)

Issue Information  Voir?

(Source: Annals of Neurology)
(13/10/2016 : 23:00)

Diagnostic criteria for neurocysticercosis  Voir?

(Source: Annals of Neurology)
(11/10/2016 : 23:00)

Survival and dementia in GBA ‐associated Parkinson's disease: The mutation matters  Voir?

The objective of this work was to investigate survival, dementia, and genotype‐phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene (GBA). MethodsWe included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild‐p.N370S and 56 severe mainly p.L444P) and 2,641 noncarriers. Brain perfusion and dopamine transporter imaging was analyzed, including dementia with Lewy Bodies (DLB) as an additional control group. ResultsMultivariable analysis adjusted by sex, age at onset, and disease duration attributed to GBA carriers a greater risk for dementia (hazard ratio [HR] = 3.16; p < 0.001) and death (HR = 1.85; p = 0.002) than noncarriers. When dementia was introduced in the model as a time‐depe...

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(02/10/2016 : 23:00)

An Open Letter to Those Who Write Dean's Letters  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Successful Management of Super Refractory Status Epilepticus with Thalamic DBS  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 23:00)

LRSAM1 Lessons  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Differentiating Lance ‐Adams syndrome from other forms of postanoxic myoclonus  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Reply to ‘Risk reduction of Parkinson disease by statin therapy in patients with diabetes' by T. Kawada  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Risk reduction of Parkinson disease by statin therapy in patients with diabetes  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

GBA, Parkinson disease, and the “senses and intellect”  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Prothrombin and factor X are elevated in multiple sclerosis patients  Voir?

This study aimed to determine whether levels of coagulation factors differ between patients with neuroimmunological disorders and respective controls. Individuals suffering from relapsing‐remitting and secondary‐progressive MS had significantly higher prothrombin and factor X levels than healthy donors (HD), while levels were unchanged in primary‐progressive MS and neuromyelitis optica patients. Our study demonstrates that coagulation factors may be key mediators in neuroinflammation and may therefore provide future targets for therapeutic strategies. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(30/09/2016 : 23:00)

Febrile infection ‐related epilepsy syndrome treated with anakinra  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 23:00)

Early lipofuscin accumulation in Frontal Lobe Epilepsy  Voir?

This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. Methods: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle‐mediated trafficking as well as proteomics analysis. Findings were correlated with pre/post‐operative clinical, imaging and electrophysiological data. Results: Excessive lipofuscin accumulation was observed in abnormal dysmorphic neurones in six cases, but not in seven Focal Cortical Dysplasia type IIB and seven pathology‐negative cases, despite s...

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(30/09/2016 : 23:00)

Psychiatric disorders prior to amyotrophic lateral sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 23:00)

Comments on Broca's 1861 case of aphasia  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

New diagnostic criteria for neurocysticercosis: Reliability and validity  Voir?

(Source: Annals of Neurology)
(30/09/2016 : 23:00)

Incidence and Impact of Subclinical Epileptiform Activity in Alzheimer's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 23:00)

Episodic Memory of Odors Stratifies Alzheimer Biomarkers in Normal Elderly  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 23:00)

The neuroinflammatory component of gray matter pathology in multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/09/2016 : 17:44)

Charcot –Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1  Voir?

ObjectiveTo identify the unknown genetic cause in a large pedigree previously classified with a distinct form of axonal Charcot–Marie–Tooth disease type 2G (CMT2G) and to explore its transcriptional consequences. MethodsClinical reevaluation of the pedigree was performed, followed by linkage analysis with the redefined disease statuses, and whole genome and exome sequencing. The impact of the mutation was investigated by immunoblotting and transcriptome sequencing. ResultsThirteen affected individuals over 3 generations displayed mild and quiescent lower‐limb axonal sensorimotor neuropathy. Magnetic resonance imaging (MRI) of lower‐limb musculature systematically showed fatty atrophy in clinical and subclinical mutation carriers. We redefined the disease‐linked region to chr9q31....

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(29/09/2016 : 23:00)

RNAi prevents and reverses phenotypes induced by mutant human ataxin ‐1  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/09/2016 : 23:00)

Preclinical disease activity in multiple sclerosis: A prospective study of cognitive performance prior to first symptom  Voir?

ObjectiveTo prospectively investigate potential signs of preclinical multiple sclerosis (MS) activity and when they are present prior to first symptom using data from a historical cohort. MethodsWe linked the cognitive performance of all Norwegian men born 1950–1995 who underwent conscription examination at age 18 to 19 years to the Norwegian MS registry to identify those later developing MS, and randomly selected controls frequency‐matched on year of birth from the Norwegian Conscript Service database. In this nested case–control study, cognitive test scores were available for 924 male cases and 19,530 male controls. We estimated mean score differences among cases and controls (Student t test) and the risk of developing MS comparing lower to higher scores (Cox regression) in strata ...

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(27/09/2016 : 23:00)

ATXN2 ‐AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis  Voir?

ObjectiveSpinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the gene ataxin‐2 (ATXN2). ATXN2 intermediate‐length CAG expansions were identified as a risk factor for amyotrophic lateral sclerosis (ALS). The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. However, recent evidence of bidirectional transcription at multiple CAG/CTG disease loci has led us to test whether additional mechanisms of pathogenesis may contribute to SCA2. MethodsIn this work, using human postmortem tissue, various cell models, and animal models, we provide the first evidence that an antisense transcript at the SCA2 locus contributes to SCA2 pathoge...

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(27/09/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(27/09/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(27/09/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(27/09/2016 : 23:00)

Annals of Neurology: Volume 80, Number 4, October 2016  Voir?

(Source: Annals of Neurology)
(27/09/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(26/09/2016 : 23:00)

Elevated CSF CXCL10: Commonalities in Paraneoplastic Neurological Disorders  Voir?

(Source: Annals of Neurology)
(25/09/2016 : 23:00)

Stratification of unresponsive patients by an independently validated index of brain complexity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/09/2016 : 23:00)

Neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/09/2016 : 23:00)

Pseudo ‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination  Voir?

ObjectivesThe m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo‐obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G‐related mitochondrial disease manifesting with IPO. MethodsIn this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A>G‐related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an occluding lesion. ResultsBetween January 2009 and June 2015, 226 patients harbouring the m.3243A>G mutation were recruited to the Medical Research Council Centre Mitoc...

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(18/09/2016 : 23:00)

Direct current stimulation over the anterior temporal areas boosts semantic processing in primary progressive aphasia  Voir?

ObjectiveNoninvasive brain stimulation in primary progressive aphasia (PPA) is a promising approach. Yet, applied to single cases or insufficiently controlled small‐cohort studies, it has not clarified its therapeutic value. We here address the effectiveness of transcranial direct current stimulation (tDCS) on the semantic PPA variant (sv‐PPA), applying a rigorous study design to a large, homogeneous sv‐PPA cohort. MethodsUsing a double‐blind, sham‐controlled counterbalanced cross‐over design, we applied three tDCS conditions targeting the temporal poles of 12 sv‐PPA patients. Efficiency was assessed by a semantic matching task orthogonally manipulating “living”/“nonliving” categories and verbal/visual modalities. Conforming to predominantly left‐lateralized damage ...

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(18/09/2016 : 23:00)

Rituximab versus fingolimod after natalizumab in multiple sclerosis: Also consider progressive multifocal leukoencephalopathy risk  Voir?

(Source: Annals of Neurology)
(14/09/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(07/09/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(07/09/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(07/09/2016 : 23:00)

Annals of Neurology: Volume 80, Number 3, September 2016  Voir?

(Source: Annals of Neurology)
(07/09/2016 : 23:00)

A Changing of the Guard  Voir?

(Source: Annals of Neurology)
(31/08/2016 : 23:00)

The role of CSF CXCL10 in paraneoplastic neurologic disorders  Voir?

(Source: Annals of Neurology)
(31/08/2016 : 23:00)

Disruption of a miR ‐29 binding site leading to COL4A1 upregulation causes PADMAL  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/08/2016 : 23:00)

Genetic Variants in CETP Increase Risk of Intracerebral Hemorrhage  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/08/2016 : 23:00)

Physiology of freezing of gait  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/08/2016 : 23:00)

Survival and dementia in GBA ‐associated Parkinson Disease: The mutation matters  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/08/2016 : 23:00)

A Novel Missense Mutation of CMT2P Alters Transcription Machinery  Voir?

This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic mechanisms of CMT2P. Methods: Patients with CMT2P were characterized clinically, electrophysiologically and genetically. A neuronal model with the LRSAM1 mutation was created using CRISPR/Cas9 technology. The neuronal cell‐line along with fibroblasts isolated from the patients was used to study RNA‐binding proteins. Results: This American family with dominantly inherited axonal polyneuropathy reveals a phenotype similar to those in previously reported non‐US families. The affected members in our family co‐segregated with a novel missense mutation Cys694Arg that alters a highly conserved cysteine in the RING domain. This mutation leads to axonal degeneration in the in vitro neuronal c...

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(31/08/2016 : 23:00)

Direct current stimulation over the anterior temporal areas boosts primary aphasia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/08/2016 : 23:00)

Pre ‐clinical disease activity in multiple sclerosis‐ a prospective study on cognitive performance prior to first symptom  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/08/2016 : 23:00)

Rituximab vs fingolimod after natalizumab in MS: Also consider PML risk  Voir?

(Source: Annals of Neurology)
(22/08/2016 : 23:00)

Video gaming in school children: How much is enough?  Voir?

ObjectiveDespite extensive debate, the proposed benefits and risks of video gaming in young people remain to be empirically clarified, particularly as regards an optimal level of use. MethodsIn 2,442 children aged 7 to 11 years, we investigated relationships between weekly video game use, selected cognitive abilities, and conduct‐related problems. A large subgroup of these children (n = 260) was further examined with magnetic resonance imaging approximately 1 year later to assess the impact of video gaming on brain structure and function. ResultsPlaying video games for 1 hour per week was associated with faster and more consistent psychomotor responses to visual stimulation. Remarkably, no further change in motor speed was identified in children playing >2 hours per week. By compariso...

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(21/08/2016 : 23:00)

Long ‐term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt–Jakob disease  Voir?

An asymptomatic 74‐year‐old woman, on follow‐up for a carotid body tumor, showed magnetic resonance imaging (MRI) focal restricted diffusion confined to the left temporal and occipital cortices. Thirteen months later, diffusion‐weighted images revealed a bilateral cortical ribbon sign involving all lobes. After 1 month, the patient developed gait instability and cognitive decline rapidly evolving to severe dementia and death within 3 months. Prion protein gene sequence, molecular, and neuropathological studies confirmed the diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD) MM1 subtype. Here we show the kinetics of MRI changes and prion spreading in preclinical sCJD MM1. Ann Neurol 2016 (Source: Annals of Neurology)

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(21/08/2016 : 23:00)

Cerebral white matter lesions and post ‐thrombolytic remote parenchymal hemorrhage  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/08/2016 : 23:00)

Dose response of task ‐specific upper limb training in people at least 6 months poststroke: A phase II, single‐blind, randomized, controlled trial  Voir?

The objectives of this work were to (1) determine whether higher doses of motor therapy in chronic poststroke hemiparesis result in better outcomes, compared to lower doses, and (2) evaluate potential modifiers of the dose‐response relationship. MethodsEighty‐five adults with upper extremity paresis ≥6 months poststroke were randomized to one of four dose groups in this single‐blind, parallel, randomized, control trial. The dosing parameter manipulated was amount of task‐specific training, as indexed by the number of task repetitions. Groups received 3,200, 6,400, 9,600, or individualized maximum (IM) repetitions, during 1‐hour sessions, 4 days/week for 8 weeks. The intervention was an individualized, progressive, task‐specific upper‐limb training program designed to improv...

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(15/08/2016 : 23:00)

Bedside quantitative electroencephalography improves assessment of consciousness in comatose subarachnoid hemorrhage patients  Voir?

ObjectiveAccurate behavioral assessments of consciousness carry tremendous significance in guiding management, but are extremely challenging in acutely brain‐injured patients. We evaluated whether electroencephalography (EEG) and multimodality monitoring parameters may facilitate assessment of consciousness in patients with subarachnoid hemorrhage. MethodsA retrospective analysis was performed of 83 consecutively treated adults with subarachnoid hemorrhage. All patients were initially comatose and had invasive brain monitoring placed. Behavioral assessments were performed during daily interruption of sedation and categorized into 3 groups based on their best examination as (1) comatose, (2) arousable (eye opening or attending toward a stimulus), and (3) aware (command following). EEG fea...

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(15/08/2016 : 23:00)

Myoclonus Status and Prognostication of Postresuscitation Coma: The Bigger Picture  Voir?

(Source: Annals of Neurology)
(10/08/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(10/08/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(10/08/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(10/08/2016 : 23:00)

Annals of Neurology: Volume 80, Number 1, August 2016  Voir?

(Source: Annals of Neurology)
(10/08/2016 : 23:00)

Impaired long ‐term potentiation–like cortical plasticity in presymptomatic genetic frontotemporal dementia  Voir?

In conclusion, these biomarkers could provide the footprints of specific physiopathological processes in the development of this disease and possibly support the diagnosis of autosomal‐dominant FTD. Ann Neurol 2016 (Source: Annals of Neurology)
(09/08/2016 : 23:00)

Gut microbiome analysis in neuromyelitis optica reveals overabundance of Clostridium perfringens  Voir?

We examined the gut microbiome by PhyloChip G3 from 16 NMO patients, 16 healthy controls (HC), and 16 multiple sclerosis patients. A significant difference in the abundance of several microbial communities was observed between NMO and HC (Adonis test, p = 0.001). Strikingly, C. perfringens was overrepresented in NMO (p = 5.24 × 10−8). These observations support a potential role for C. perfringens in NMO pathogenesis. Ann Neurol 2016 (Source: Annals of Neurology)

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(03/08/2016 : 23:00)

Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/08/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(03/08/2016 : 23:00)

Acute flaccid myelitis: A clinical review of US cases 2012 –2015  Voir?

This review highlights clinical features of the increasing cases of acute flaccid paralysis associated with anterior myelitis noted in the United States from 2012 to 2015. Acute flaccid myelitis refers to acute flaccid limb weakness with spinal cord gray matter lesions on imaging or evidence of spinal cord motor neuron injury on electrodiagnostic testing. Although some individuals demonstrated improvement in motor weakness and functional deficits, most have residual weakness a year or more after onset. Epidemiological evidence and biological plausibility support an association between enterovirus D68 and the recent increase in acute flaccid myelitis cases in the United States. Ann Neurol 2016 (Source: Annals of Neurology)

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(03/08/2016 : 23:00)

Challenges to neurology residency education in today's health care environment  Voir?

Residency training has had to adapt to higher patient volumes, increased complexity of medical care, and the commercialized system of health care. These changes have led to a concerning culture shift in neurology. We review the relationship between the emerging health care delivery system and residency training, highlighting issues related to duty hours and work‐life balance, the changing technological landscape, high patient volumes, and complex service obligations. We propose that the current challenges in health care delivery offer the opportunity to improve neurology residency through faculty development programs, bringing teaching back to the bedside, increasing resident autonomy, utilizing near‐peer teaching, and rewarding educators who facilitate an environment of inquiry and sc...

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(03/08/2016 : 23:00)

Reasons Charcot –Marie–Tooth disease due to mutations in the MME gene should not be named AR‐CMT2T  Voir?

(Source: Annals of Neurology)
(03/08/2016 : 23:00)

Seed ‐competent high‐molecular‐weight tau species accumulates in the cerebrospinal fluid of Alzheimer's disease mouse model and human patients  Voir?

ObjectiveCerebrospinal fluid (CSF) tau is an excellent surrogate marker for assessing neuropathological changes that occur in Alzheimer's disease (AD) patients. However, whether the elevated tau in AD CSF is just a marker of neurodegeneration or, in fact, a part of the disease process is uncertain. Moreover, it is unknown how CSF tau relates to the recently described soluble high‐molecular‐weight (HMW) species that is found in the postmortem AD brain and can be taken up by neurons and seed aggregates. MethodsWe have examined seeding and uptake properties of brain extracellular tau from various sources, including interstitial fluid (ISF) and CSF from an AD transgenic mouse model and postmortem ventricular and antemortem lumbar CSF from AD patients. ResultsWe found that brain ISF and CSF...

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(02/08/2016 : 23:00)

123I ‐2β‐carbomethoxy‐3β‐(4‐iodophenyl)‐N‐(3‐fluoropropyl) nortropane single photon emission computed tomography and 123I‐metaiodobenzylguanidine myocardial scintigraphy in differentiating dementia with lewy bodies from other dementias: A comparative study  Voir?

ObjectiveTo compare the diagnostic value of striatal 123I‐2β‐carbomethoxy‐3β‐(4‐iodophenyl)‐N‐(3‐fluoropropyl) nortropane (123I‐FP‐CIT) single photon emission computed tomography (SPECT) and 123I‐metaiodobenzylguanidine (123I‐MIBG) myocardial scintigraphy in differentiating dementia with Lewy bodies (DLB) from other dementia types. MethodsThis prospective longitudinal study included 30 patients with a clinical diagnosis of DLB and 29 patients with non‐DLB dementia (Alzheimer disease, n = 16; behavioral variant frontotemporal dementia, n = 13). All patients underwent 123I‐FP‐CIT SPECT and 123I‐MIBG myocardial scintigraphy within a few weeks of clinical diagnosis. All diagnoses at each center were agreed upon by the local clinician and an independent...

... / ... Lire la suite

(01/08/2016 : 23:00)

Ephrin ‐B2 prevents N‐methyl‐D‐aspartate receptor antibody effects on memory and neuroplasticity  Voir?

ObjectiveTo demonstrate that ephrin‐B2 (the ligand of EphB2 receptor) antagonizes the pathogenic effects of patients' N‐methyl‐D‐aspartate receptor (NMDAR) antibodies on memory and synaptic plasticity. MethodsOne hundred twenty‐two C57BL/6J mice infused with cerebrospinal fluid (CSF) from patients with anti‐NMDAR encephalitis or controls, with or without ephrin‐B2, were investigated. CSF was infused through ventricular catheters connected to subcutaneous osmotic pumps over 14 days. Memory, behavioral tasks, locomotor activity, presence of human antibodies specifically bound to hippocampal NMDAR, and antibody effects on the density of cell‐surface and synaptic NMDAR and EphB2 were examined at different time points using reported techniques. Short‐ and long‐term synaptic ...

... / ... Lire la suite

(01/08/2016 : 23:00)

Therapy with Eculizumab for Patients with CD59 p.Cys89Tyr Mutation  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/07/2016 : 23:00)

Response to: Letter to the Editor (ANA ‐16‐0787) by Marignier et al.  Voir?

(Source: Annals of Neurology)
(31/07/2016 : 23:00)

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/07/2016 : 23:00)

ATXN2 ‐AS, a gene antisense to ATXN2, is associated with SCA2 and ALS  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/07/2016 : 23:00)

A novel imaging marker for small vessel disease based on skeletonization of white matter tracts and diffusion histograms  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/07/2016 : 23:00)

Statin Therapy Prevents the Onset of Parkinson Disease in Patients with Diabetes  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(28/07/2016 : 23:00)

Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(28/07/2016 : 23:00)

Microdialysis to optimize cord perfusion and drug delivery in spinal cord injury  Voir?

This study determined the optimum spinal cord perfusion pressure and optimum tissue glucose concentration at the injury site. We also identified spinal cord perfusion pressure as a key determinant of drug entry into the injured spinal cord. Our findings challenge current guidelines, which recommend maintaining mean arterial pressure at 85 – 90 mmHg for a week after spinal cord injury. We propose that future drug trials for spinal cord injury include pressure and microdialysis monitoring to optimize spinal cord perfusion and maximize drug delivery at the injury site. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(26/07/2016 : 23:00)

Infantile spasms in Down syndrome: Rescue by knockdown of the GIRK2 channel  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/07/2016 : 23:00)

Zika virus: An emergent neuropathological agent  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/07/2016 : 23:00)

Long ‐term evolution of multiple sclerosis disability in the treatment era  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/07/2016 : 23:00)

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/07/2016 : 23:00)

Video gaming in school children ‐ how much is enough?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/07/2016 : 23:00)

Neuroanatomic Correlates of Female Sexual Dysfunction in Multiple Sclerosis  Voir?

This study intended to determine associations between alterations of female sexual arousal as well as vaginal lubrication and the site of cerebral multiple sclerosis (MS) lesions. Methods: In 44 women with MS (mean age 36.5±9.9 years), we assessed their medical history and evaluated sexual function using the Female Sexual Function Index scores for arousal and vaginal lubrication. We determined potential confounding factors of sexual dysfunction: age, disease duration, physical disability, depression, bladder or urinary dysfunction, and total volume of cerebral lesions. Arousal and lubrication scores were correlated with each other and with potential confounding factors. Cerebral MS lesions were recorded on imaging scans. A voxel‐based lesion symptom mapping (VLSM) analysis adjusted for ...

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(26/07/2016 : 23:00)

The reasons why CMT due to mutations in the MME gene should not be named AR ‐CMT2T  Voir?

(Source: Annals of Neurology)
(25/07/2016 : 23:00)

Too good to treat? ischemic stroke patients with small computed tomography perfusion lesions may not benefit from thrombolysis  Voir?

In this study, we tested the hypothesis that a small acute perfusion lesion predicts good clinical outcome regardless of thrombolysis administration. MethodsWe used a prospectively collected cohort of acute ischemic stroke patients being assessed for treatment with IV‐alteplase, who had CTP before a treatment decision. Volumetric CTP was retrospectively analyded to identify patients with a small perfusion lesion (<15ml in volume). The primary analysis was excellent 3‐month outcome in patients with a small perfusion lesion who were treated with alteplase compared to those who were not treated. ResultsOf 1526 patients, 366 had a perfusion lesion <15ml and were clinically eligible for alteplase (212 being treated and 154 not treated). Median acute National Institutes of Health Strok...

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(25/07/2016 : 23:00)

Activity ‐dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1  Voir?

ObjectiveFamilial hemiplegic migraine type 1 (FHM1) is a subtype of migraine with aura caused by a gain‐of‐function mutation in the pore‐forming α1 subunit of CaV2.1 (P/Q‐type) calcium channels. However, the mechanisms underlying how the disease is brought about and the prolonged aura remain incompletely understood. MethodsIn the anesthetized FHM1 mouse model in vivo, we used two‐photon microscopy to measure calcium changes in neurons and astrocytes during somatosensory stimulations and cortical spreading depression (CSD), the putative mechanism of the migraine aura. We combined it with assessment of local field potentials by electrophysiological recordings, cerebral blood flow by laser Doppler flowmetry, and oxygen consumption with measurement of the oxygen tissue tension. Resu...

... / ... Lire la suite

(25/07/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(24/07/2016 : 23:00)

Dose ‐response of task‐specific upper limb training in people at least 6 months post stroke: A Phase II, single‐blind, randomized, controlled trial  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/07/2016 : 23:00)

Impaired LTP ‐like cortical plasticity in presymptomatic genetic FTD  Voir?

In conclusion, these biomarkers could provide the footprints of specific physiopathological processes in the development of this disease and possibly support the diagnosis of autosomal dominant Frontotemporal dementia. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(19/07/2016 : 23:00)

Impaired LTP‐like cortical plasticity in presymptomatic genetic FTD  Voir?

In conclusion, these biomarkers could provide the footprints of specific physiopathological processes in the development of this disease and possibly support the diagnosis of autosomal dominant Frontotemporal dementia. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(19/07/2016 : 23:00)

New diagnostic criteria for neurocysticercosis: Reliability and validity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/07/2016 : 23:00)

Acute Flaccid Myelitis: A Clinical Review of US Cases 2012 ‐2015  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Truncating mutations in APP cause a distinct neurological phenotype  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Deep Brain Stimulation and Climbing Fiber Synaptic Pathology in Essential Tremor  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Somatosensory attention identifies both overt and covert awareness in disorders of consciousness  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Acute Flaccid Myelitis: A Clinical Review of US Cases 2012‐2015  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: An answer to the paradox?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

Challenges to neurology residency education in today's healthcare environment  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2016 : 23:00)

CTLA4 as Immunological Checkpoint in the Development of Multiple Sclerosis  Voir?

We investigated a patient who developed multiple sclerosis (MS) during treatment with the CTLA4‐blocking antibody ipilimumab for metastatic melanoma. Initially he showed subclinical magnetic resonance imaging (MRI) changes (radiologically isolated syndrome). Two courses of ipilimumab were each followed by a clinical episode of MS, 1 of which was accompanied by a massive increase of MRI activity. Brain biopsy confirmed active, T‐cell type MS. Quantitative next generation sequencing of T‐cell receptor genes revealed distinct oligoclonal CD4+ and CD8+ T‐cell repertoires in the primary melanoma and cerebrospinal fluid. Our results pinpoint the coinhibitory molecule CTLA4 as an immunological checkpoint and therapeutic target in MS. Ann Neurol 2016 (Source: Annals of Neurology)

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(14/07/2016 : 23:00)

Absence of γ‐aminobutyric acid‐a receptor potentiation in central hypersomnolence disorders  Voir?

ObjectiveThe pathophysiology of idiopathic hypersomnia (IH) remains unclear. Recently, cerebrospinal fluid (CSF)‐induced enhancement of γ‐aminobutyric acid (GABA)‐A receptor activity was found in patients with IH compared to controls. MethodsFifteen unrelated patients (2 males and 13 females) affected with typical IH, 12 patients (9 males and 3 females) with narcolepsy type 1, and 15 controls (9 males and 6 females) with unspecified hypersomnolence (n = 7) and miscellaneous neurological conditions (n = 8) were included. A lumbar puncture was performed in all participants to measure CSF hypocretin‐1 and GABA‐A response. We used a voltage‐clamp assay on Xenopus oocytes injected with the RNAs that encode the α1β2γ2 or the α2β2γ2 subunits of the human GABA‐A recept...

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(13/07/2016 : 23:00)

Mitochondrial DNA mutations increase in early stage Alzheimer disease and are inconsistent with oxidative damage  Voir?

Mitochondrial dysfunction and oxidative damage are commonly associated with early stage Alzheimer disease (AD). The accumulation of somatic mutations in mitochondrial DNA (mtDNA) has been hypothesized to be a driver of these phenotypes, but the detection of increased mutation loads has been difficult due to a lack of sensitive methods. We used an ultrasensitive next generation sequencing technique to measure the mutation load of the entire mitochondrial genome. Here, we report a significant increase in the mtDNA mutation frequency in the hippocampus of early stage AD, with the cause of these mutations being consistent with replication errors and not oxidative damage. Ann Neurol 2016 (Source: Annals of Neurology)

... / ... Lire la suite

(12/07/2016 : 23:00)

Prospective, open ‐label safety study of intravenous recombinant tissue plasminogen activator in wake‐up stroke  Voir?

ObjectiveIt is estimated that one of four ischemic strokes are noticed upon awakening and are not candidates for intravenous recombinant tissue plasminogen activator (rtPA) because their symptoms are >3 hours from last seen normal (LSN). We tested the safety of rtPA in a multicenter, single‐arm, prospective, open‐label study (NCT01183533) in patients with wake‐up stroke (WUS). MethodsWe aimed to enroll 40 WUS patients with disabling deficits. Patients were 18 to 80 years of age, National Institutes of Health Stroke Scale (NIHSS) ≤25, and selected only on the appearance of noncontrast computed tomography (ie, over one‐third middle cerebral artery territory hypodensity). Standard‐dose (0.9mg/kg) intravenous rtPA had to be started ≤3 hours of patient awakening. The primary sa...

... / ... Lire la suite

(11/07/2016 : 23:00)

Prospective, open‐label safety study of intravenous recombinant tissue plasminogen activator in wake‐up stroke  Voir?

ObjectiveIt is estimated that one of four ischemic strokes are noticed upon awakening and are not candidates for intravenous recombinant tissue plasminogen activator (rtPA) because their symptoms are >3 hours from last seen normal (LSN). We tested the safety of rtPA in a multicenter, single‐arm, prospective, open‐label study (NCT01183533) in patients with wake‐up stroke (WUS). MethodsWe aimed to enroll 40 WUS patients with disabling deficits. Patients were 18 to 80 years of age, National Institutes of Health Stroke Scale (NIHSS) ≤25, and selected only on the appearance of noncontrast computed tomography (ie, over one‐third middle cerebral artery territory hypodensity). Standard‐dose (0.9mg/kg) intravenous rtPA had to be started ≤3 hours of patient awakening. The primary sa...

... / ... Lire la suite

(11/07/2016 : 23:00)

Gut microbiome analysis in neuromyelitis optica reveals over ‐abundance of Clostridium perfringens  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

123I ‐FP‐CIT SPECT and 123I‐MIBG myocardial scintigraphy in differentiating dementia with Lewy bodies from other dementias: a comparative study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

Imaging and cerebrospinal fluid biomarkers in early preclinical Alzheimer disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

Gut microbiome analysis in neuromyelitis optica reveals over‐abundance of Clostridium perfringens  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

123I‐FP‐CIT SPECT and 123I‐MIBG myocardial scintigraphy in differentiating dementia with Lewy bodies from other dementias: a comparative study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

Prevalence and outcome of mitochondrial epilepsy  Voir?

(Source: Annals of Neurology)
(10/07/2016 : 23:00)

EphrinB2 prevents NMDA receptor antibody effects on memory and neuroplasticity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(10/07/2016 : 23:00)

Long ‐term potentiation–like cortical plasticity is disrupted in Alzheimer's disease patients independently from age of onset  Voir?

ObjectiveAlzheimer's disease (AD) is considered an age‐related disorder. However, it is unclear whether AD induces the same pathological and neurophysiological modifications in synaptic functions independently from age of disease onset. We used transcranial magnetic stimulation tools to investigate the mechanisms of cortical plasticity and sensory‐motor integration in AD patients with a wide range of disease onset. MethodsWe evaluated newly diagnosed sporadic AD (n = 54) in comparison with healthy age‐matched controls (HS; n = 24). Cortical plasticity mechanisms of long‐term potentiation (LTP) or of long‐term depression (LTD) were assessed using respectively intermittent (iTBS) or continuous theta burst stimulation (cTBS) protocols. Sensory‐motor integration was evaluated by me...

... / ... Lire la suite

(07/07/2016 : 23:00)

In vivo cortical spreading pattern of tau and amyloid in the Alzheimer disease spectrum  Voir?

ObjectiveTo determine the in vivo cortical spreading pattern of tau and amyloid and to establish positron emission tomography (PET) image‐based tau staging in the Alzheimer disease (AD) spectrum. MethodsWe included 195 participants (53 AD, 52 amnestic mild cognitive impairment [MCI], 23 nonamnestic MCI, and 67 healthy controls) who underwent 2 PET scans (18F‐florbetaben for amyloid‐β and 18F‐AV‐1451 for tau). We assumed that regions with earlier appearances of pathology may show increased binding in a greater number of participants and acquired spreading order of tau accumulation by sorting the regional frequencies of involvement. We classified each participant into image‐based tau stage based on the Z score of the composite region for each stage. ResultsTau accumulation was m...

... / ... Lire la suite

(07/07/2016 : 23:00)

Long‐term potentiation–like cortical plasticity is disrupted in Alzheimer's disease patients independently from age of onset  Voir?

ObjectiveAlzheimer's disease (AD) is considered an age‐related disorder. However, it is unclear whether AD induces the same pathological and neurophysiological modifications in synaptic functions independently from age of disease onset. We used transcranial magnetic stimulation tools to investigate the mechanisms of cortical plasticity and sensory‐motor integration in AD patients with a wide range of disease onset. MethodsWe evaluated newly diagnosed sporadic AD (n = 54) in comparison with healthy age‐matched controls (HS; n = 24). Cortical plasticity mechanisms of long‐term potentiation (LTP) or of long‐term depression (LTD) were assessed using respectively intermittent (iTBS) or continuous theta burst stimulation (cTBS) protocols. Sensory‐motor integration was evaluated by me...

... / ... Lire la suite

(07/07/2016 : 23:00)

An open letter concerning do ‐it‐yourself users of transcranial direct current stimulation  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Direct current stimulation induces mGluR5 ‐dependent neocortical plasticity  Voir?

ObjectiveTo obtain insights into mechanisms mediating changes in cortical excitability induced by cathodal transcranial direct current stimulation (tDCS). MethodsNeocortical slices were exposed to direct current stimulation (DCS) delivered through Ag/AgCl electrodes over a range of current orientations, magnitudes, and durations. DCS‐induced cortical plasticity and its receptor dependency were measured as the change in layer II/III field excitatory postsynaptic potentials by a multielectrode array, both with and without neurotransmitter receptor blockers or allosteric modulators. In vivo, tDCS was delivered to intact mice scalp via surface electrodes. Molecular consequences of DCS in vitro or tDCS in vivo were tested by immunoblot of protein extracted from stimulated slices or the neocor...

... / ... Lire la suite

(06/07/2016 : 23:00)

[F ‐18]AV‐1451 positron emission tomography retention in choroid plexus: More than “off‐target” binding  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

An open letter concerning do‐it‐yourself users of transcranial direct current stimulation  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Annals of Neurology: Volume 80, Number 1, July 2016  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

[F‐18]AV‐1451 positron emission tomography retention in choroid plexus: More than “off‐target” binding  Voir?

(Source: Annals of Neurology)
(06/07/2016 : 23:00)

Long ‐term preclinical MRI alterations in sporadic Creutzfeldt‐Jakob disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

Mycoplasma pneumoniae triggering the Guillain ‐Barré syndrome: A case‐control study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

Bedside quantitative EEG improves assessment of consciousness in comatose subarachnoid hemorrhage patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

Regarding the nomenclature for MME ‐related CMT subtype  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

Pseudo ‐obstruction, stroke and mitochondrial dysfunction: A lethal combination  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

What's the Perfect Dose for Practice to make Perfect?  Voir?

(Source: Annals of Neurology)
(30/06/2016 : 23:00)

Myoclonus status and prognostication of post ‐resuscitation coma: The big picture  Voir?

(Source: Annals of Neurology)
(30/06/2016 : 23:00)

Myoclonus status and prognostication of post‐resuscitation coma: The big picture  Voir?

(Source: Annals of Neurology)
(30/06/2016 : 23:00)

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/06/2016 : 23:00)

The brain that changed neurology: Broca's 1861 case of aphasia  Voir?

(Source: Annals of Neurology)
(30/06/2016 : 23:00)

Reply to ‘Prevalence and outcome of mitochondrial epilepsy’ Finsterer and Zarrouk‐Mahjoub  Voir?

(Source: Annals of Neurology)
(30/06/2016 : 23:00)

Seed ‐competent HMW tau species accumulates in the cerebrospinal fluid of Alzheimer's disease mouse model and human patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/06/2016 : 23:00)

Development of White Matter Hyperintensity is Preceded by Reduced Cerebrovascular Reactivity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/06/2016 : 23:00)

The pressure difference between eye and brain changes with posture  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/06/2016 : 23:00)

CTLA‐4 as immunological checkpoint in the development of multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/06/2016 : 23:00)

Seed‐competent HMW tau species accumulates in the cerebrospinal fluid of Alzheimer's disease mouse model and human patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/06/2016 : 23:00)

Clinically distinct electroencephalographic phenotypes of early myoclonus after cardiac arrest  Voir?

We describe 2 distinct patterns with distinct prognostic significances. For patients with Pattern 1 EEGs, it may be appropriate to abandon our current clinical standard of aggressive therapy with conventional antiepileptic therapy in favor of early limitation of care or novel neuroprotective strategies. Ann Neurol 2016. (Source: Annals of Neurology)

... / ... Lire la suite

(27/06/2016 : 23:00)

Is near ‐infrared light neuroprotective?  Voir?

(Source: Annals of Neurology)
(23/06/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(23/06/2016 : 23:00)

Globus pallidus degeneration and clinicopathological features of Huntington disease  Voir?

This study characterizes the pattern of neurodegeneration in 3 subdivisions of the human GP, and its relation to clinical symptomatology. MethodsStereology was used to measure regional atrophy, neuronal loss, and soma neuronal atrophy in 3 components of the GP—the external segment (GPe), internal segment (GPi), and ventral pallidum (VP)—in 8 HD cases compared with 7 matched control cases. The findings in the HD patients were compared with HD striatal neuropathological grade, and symptom scores of motor impairment, chorea, cognition, and mood. ResultsRelative to controls, in the HD patients the GPe showed a 54% overall volume decline, 60% neuron loss, and 34% reduced soma volume. Similarly, the VP was reduced in volume by 31%, with 48% neuron loss and 64% reduced soma volume. In contras...

... / ... Lire la suite

(23/06/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(23/06/2016 : 23:00)

Activity ‐dependent calcium, oxygen and vascular responses in a mouse model of familial hemiplegic migraine type 1  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/06/2016 : 23:00)

Mitochondrial DNA Mutations Increase in Early Stage Alzheimer's Disease and are Inconsistent with Oxidative Damage  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/06/2016 : 23:00)

Absence of GABA‐A receptor potentiation in central hypersomnolence disorders  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/06/2016 : 23:00)

Activity‐dependent calcium, oxygen and vascular responses in a mouse model of familial hemiplegic migraine type 1  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/06/2016 : 23:00)

Direct current stimulation induces mGluR5‐dependent neocortical plasticity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(16/06/2016 : 23:00)

Elevated basal glutamate and unchanged glutamine and GABA in refractory epilepsy: Microdialysis study of 79 patients at the yale epilepsy surgery program  Voir?

ObjectiveAberrant glutamate and γ‐aminobutyric acid (GABA) neurotransmission contribute to seizure generation and the epileptic state. However, whether levels of these neurochemicals are abnormal in epileptic patients is unknown. Here, we report on interictal levels of glutamate, glutamine, and GABA in epilepsy patients at seizure onset and nonepileptic sites, cortical lesions, and from patients with poorly localized neocortical epilepsies. MethodsSubjects (n = 79) were medically refractory epilepsy patients undergoing intracranial electroencephalogram evaluation. Microdialysis probes (n = 125) coupled to depth electrodes were implanted within suspected seizure onset sites and microdialysis samples were obtained during interictal periods. Glutamate, glutamine, and GABA were measured usi...

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(12/06/2016 : 23:00)

Normalization of network connectivity in hemispatial neglect recovery  Voir?

In this study, we test the hypothesis that recovery of hemispatial neglect correlates with a return of network connectivity toward a normal pattern, herein defined as “network normalization.” MethodsWe measured attention deficits with a neuropsychological battery and FC in a large cohort of stroke patients at, on average, 2 weeks (n = 99), 3 months (n = 77), and 12 months (n = 64) postonset. The relationship between behavioral improvement and changes in FC was analyzed both in terms of a priori regions and networks known to be abnormal subacutely and in a data‐driven manner. ResultsAttention deficit recovery was mostly complete by 3 months and was significantly correlated with a normalization of abnormal FC across many networks. Improvement of attention deficits, independent of initi...

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(08/06/2016 : 23:00)

Is near‐infrared light neuroprotective?  Voir?

(Source: Annals of Neurology)
(05/06/2016 : 23:00)

A second patient with a de novo GABRB1 mutation and epileptic encephalopathy  Voir?

(Source: Annals of Neurology)
(05/06/2016 : 23:00)

Prospective, open‐label safety study of intravenous rtPA in wake‐up stroke  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(05/06/2016 : 23:00)

Globus pallidus degeneration and clinico‐pathological features of Huntington's disease  Voir?

This study characterizes the pattern of neurodegeneration in three subdivisions of the human globus pallidus, and its relation to clinical symptomatology. Methods: Stereology was used to measure regional atrophy, neuronal loss, and soma neuronal atrophy in three components of the GP ‐ the external segment (GPe), internal segment (GPi) and ventral pallidum (VP) ‐ in eight HD cases compared with seven matched control cases. The findings in the HD patients were compared with HD striatal neuropathological grade, and symptom scores of motor impairment, chorea, cognition and mood. Results: Relative to controls, in the HD patients the GPe showed a 54% overall volume decline, 60% neuron loss and 34% reduced soma volume. Similarly, the VP was reduced in volume by 31%, with 48% neuron loss and 6...

... / ... Lire la suite

(02/06/2016 : 23:00)

Authors' reply to ANA‐16‐0445 (Letter to the Editor from D. Zochodne)  Voir?

(Source: Annals of Neurology)
(01/06/2016 : 23:00)

Cerebrospinal fluid real ‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study  Voir?

Real‐time quaking‐induced conversion (RT‐QuIC) has been proposed as a sensitive diagnostic test for sporadic Creutzfeldt–Jakob disease; however, before this assay can be introduced into clinical practice, its reliability and reproducibility need to be demonstrated. Two international ring trials were undertaken in which a set of 25 cerebrospinal fluid samples were analyzed by a total of 11 different centers using a range of recombinant prion protein substrates and instrumentation. The results show almost complete concordance between the centers and demonstrate that RT‐QuIC is a suitably reliable and robust technique for clinical practice. Ann Neurol 2016;80:160–165 (Source: Annals of Neurology)

... / ... Lire la suite

(31/05/2016 : 23:00)

Obstructive sleep apnea decreases central nervous system –derived proteins in the cerebrospinal fluid  Voir?

We hypothesized that one mechanism underlying the association between obstructive sleep apnea (OSA) and Alzheimer's disease is OSA leading to decreased slow wave activity (SWA), increased synaptic activity, decreased glymphatic clearance, and increased amyloid‐β. Polysomnography and lumbar puncture were performed in OSA and control groups. SWA negatively correlated with cerebrospinal fluid (CSF) amyloid‐β‐40 among controls and was decreased in the OSA group. Unexpectedly, amyloid‐β‐40 was decreased in the OSA group. Other neuronally derived proteins, but not total protein, were also decreased in the OSA group, suggesting that OSA may affect the interaction between interstitial and cerebrospinal fluid. Ann Neurol 2016;80:154–159 (Source: Annals of Neurology)

... / ... Lire la suite

(31/05/2016 : 23:00)

Predictors of long ‐term disability accrual in relapse‐onset multiple sclerosis  Voir?

ObjectiveTo identify predictors of 10‐year Expanded Disability Status Scale (EDSS) change after treatment initiation in patients with relapse‐onset multiple sclerosis. MethodsUsing data obtained from MSBase, we defined baseline as the date of first injectable therapy initiation. Patients need only have remained on injectable therapy for 1 day and were monitored on any approved disease‐modifying therapy, or no therapy thereafter. Median EDSS score changes over a 10‐year period were determined. Predictors of EDSS change were then assessed using median quantile regression analysis. Sensitivity analyses were further performed. ResultsWe identified 2,466 patients followed up for at least 10 years reporting post‐baseline disability scores. Patients were treated an average 83% of their ...

... / ... Lire la suite

(31/05/2016 : 23:00)

Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell –derived model  Voir?

ObjectiveWe investigated the pathogenicity of immunoglobulin M (IgM) anti‐GM1 antibodies in serum from patients with multifocal motor neuropathy (MMN) using human induced pluripotent stem cell (iPSC)‐derived motor neurons (MNs). MethodsiPSCs were generated from fibroblasts and differentiated into MNs. We studied the binding of IgM to MNs, their complement‐activating properties, and effects on structural integrity using fluorescence and electron microscopy. Live cell imaging was used to study effects of antibody binding on MNs in the presence and absence of complement. ResultsIgM antibody binding to MNs was detected using sera from MMN patients with and without detectable anti‐GM1 IgM antibody titers in enzyme‐linked immunosorbent assay, but not with sera from (disease) controls. ...

... / ... Lire la suite

(31/05/2016 : 23:00)

Too good to treat? Ischemic stroke patients with small CT perfusion lesions may not benefit from thrombolysis  Voir?

Conclusion: This large observational cohort suggests that a portion of ischemic stroke patients clinically eligible for alteplase therapy with a small perfusion lesion have a good natural history and may not benefit from treatment. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(31/05/2016 : 23:00)

In vivo cortical spreading pattern of tau and amyloid in the Alzheimer's disease spectrum  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/05/2016 : 23:00)

[F‐18]AV‐1451 PET retention in choroid plexus: More than “off‐target” binding  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/05/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(31/05/2016 : 23:00)

Further analysis of the neuroprotective effect of near‐infrared light in a monkey model of Parkinson disease  Voir?

(Source: Annals of Neurology)
(31/05/2016 : 23:00)

LTP‐like cortical plasticity is disrupted in Alzheimer's disease patients independently from age of onset  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/05/2016 : 23:00)

Fiber loss in diabetic polyneuropathy  Voir?

(Source: Annals of Neurology)
(31/05/2016 : 23:00)

Cerebrospinal fluid real‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study  Voir?

Real‐time quaking‐induced conversion (RT‐QuIC) has been proposed as a sensitive diagnostic test for sporadic Creutzfeldt–Jakob disease; however, before this assay can be introduced into clinical practice, its reliability and reproducibility need to be demonstrated. Two international ring trials were undertaken in which a set of 25 cerebrospinal fluid samples were analyzed by a total of 11 different centers using a range of recombinant prion protein substrates and instrumentation. The results show almost complete concordance between the centers and demonstrate that RT‐QuIC is a suitably reliable and robust technique for clinical practice. Ann Neurol 2016 (Source: Annals of Neurology)

... / ... Lire la suite

(31/05/2016 : 23:00)

Obstructive sleep apnea decreases central nervous system–derived proteins in the cerebrospinal fluid  Voir?

We hypothesized that one mechanism underlying the association between obstructive sleep apnea (OSA) and Alzheimer's disease is OSA leading to decreased slow wave activity (SWA), increased synaptic activity, decreased glymphatic clearance, and increased amyloid‐β. Polysomnography and lumbar puncture were performed in OSA and control groups. SWA negatively correlated with cerebrospinal fluid (CSF) amyloid‐β‐40 among controls and was decreased in the OSA group. Unexpectedly, amyloid‐β‐40 was decreased in the OSA group. Other neuronally derived proteins, but not total protein, were also decreased in the OSA group, suggesting that OSA may affect the interaction between interstitial and CSF. Ann Neurol 2016 (Source: Annals of Neurology)

... / ... Lire la suite

(31/05/2016 : 23:00)

Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell–derived model  Voir?

ObjectiveWe investigated the pathogenicity of immunoglobulin M (IgM) anti‐GM1 antibodies in serum from patients with multifocal motor neuropathy (MMN) using human induced pluripotent stem cell (iPSC)‐derived motor neurons (MNs). MethodsiPSCs were generated from fibroblasts and differentiated into MNs. We studied the binding of IgM to MNs, their complement‐activating properties, and effects on structural integrity using fluorescence and electron microscopy. Live cell imaging was used to study effects of antibody binding on MNs in the presence and absence of complement. ResultsIgM antibody binding to MNs was detected using sera from MMN patients with and without detectable anti‐GM1 IgM antibody titers in enzyme‐linked immunosorbent assay, but not with sera from (disease) controls. ...

... / ... Lire la suite

(31/05/2016 : 23:00)

The spectrum of structural and functional imaging abnormalities in temporal lobe epilepsy  Voir?

Conclusion. Multimodal MRI reveals diverging structural and functional connectivity profiles across the TLE spectrum. Pathology‐specific modulations of large‐scale functional brain networks lends novel evidence for a close interplay of structural and functional disruptions in focal epilepsy. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(27/05/2016 : 12:16)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(25/05/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(25/05/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(25/05/2016 : 23:00)

Annals of Neurology: Volume 79, Number 6, June 2016  Voir?

(Source: Annals of Neurology)
(25/05/2016 : 23:00)

Prognostication of long ‐term outcomes after subarachnoid hemorrhage: The FRESH score  Voir?

ObjectiveTo create a multidimensional tool to prognosticate long‐term functional, cognitive, and quality of life outcomes after spontaneous subarachnoid hemorrhage (SAH) using data up to 48 hours after admission. MethodsData were prospectively collected for 1,619 consecutive patients enrolled in the SAH outcome project July 1996 to March 2014. Linear models (LMs) were applied to identify factors associated with outcome in 1,526 patients with complete data. Twelve‐month functional, cognitive, and quality of life outcomes were measured using the modified Rankin scale (mRS), Telephone Interview for Cognitive Status, and Sickness Impact Profile. Based on the LM residuals, we constructed the FRESH score (Functional Recovery Expected after Subarachnoid Hemorrhage). Score performance, discrim...

... / ... Lire la suite

(24/05/2016 : 23:00)

Retraction: ‘DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis’ by Jiang, T., Zhang, Y‐D., Tan, L., and Yu, J‐T.  Voir?

The above Letter to the Editor from Annals of Neurology, published online as an Accepted Article on 4th April 2016 on Wiley Online Library (wileyonlinelibrary.com), has been withdrawn at the request of the authors with agreement from the journal editor, Clifford B. Saper, and Wiley Periodicals, Inc. The withdrawal has been agreed due to an acknowledgement from the authors that they inappropriately implied that material from the PD Gene and ALS Gene public databases and a figure from the Max Planck Society for the Advancement of Science was their own work.Reference Jiang, T., Zhang, Y‐D., Tan, L., and Yu, J‐T (2016) DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis. Ann Neurol. doi: 10.1002/ana.24658. (Source: Annals of Neurology)

... / ... Lire la suite

(24/05/2016 : 23:00)

Prognostication of long‐term outcomes after subarachnoid hemorrhage: The FRESH score  Voir?

ObjectiveTo create a multidimensional tool to prognosticate long‐term functional, cognitive, and quality of life outcomes after spontaneous subarachnoid hemorrhage (SAH) using data up to 48 hours after admission. MethodsData were prospectively collected for 1,619 consecutive patients enrolled in the SAH outcome project July 1996 to March 2014. Linear models (LMs) were applied to identify factors associated with outcome in 1,526 patients with complete data. Twelve‐month functional, cognitive, and quality of life outcomes were measured using the modified Rankin scale (mRS), Telephone Interview for Cognitive Status, and Sickness Impact Profile. Based on the LM residuals, we constructed the FRESH score (Functional Recovery Expected after Subarachnoid Hemorrhage). Score performance, discrim...

... / ... Lire la suite

(24/05/2016 : 23:00)

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there  Voir?

ObjectiveTo evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies. MethodsA total of 123 CMD patients were investigated using the traditional approaches of histology, immunohistochemical analysis of muscle biopsy, and candidate gene sequencing. Undiagnosed patients available for further testing were investigated using NGS. ResultsMuscle biopsy and immunohistochemical analysis found deficiencies of laminin α2, α‐dystroglycan, or collagen VI in 50% of patients. Candidate gene sequencing and chromosomal microarray established a genetic diagnosis in 32% (39 of 123). Of 85 patients presenting in the past 20 years, 28 of 51 who lacked a confirmed genetic diagnosis (55%) consented ...

... / ... Lire la suite

(24/05/2016 : 23:00)

PKD or Not PKD: That is the question  Voir?

(Source: Annals of Neurology)
(10/05/2016 : 23:00)

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.  Voir?

(Source: Annals of Neurology)
(09/05/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(09/05/2016 : 23:00)

Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(08/05/2016 : 23:00)

Pittsburgh compound B and other amyloid positron emission tomography tracers for the study of white matter and multiple sclerosis  Voir?

(Source: Annals of Neurology)
(08/05/2016 : 23:00)

Benzothiazole and stilbene derivatives as promising positron emission tomography myelin radiotracers for multiple sclerosis  Voir?

(Source: Annals of Neurology)
(08/05/2016 : 23:00)

Whole exome sequencing in patients with white matter abnormalities  Voir?

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases. Ann Neurol 2016 (Source: Annals of Neurology)

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(08/05/2016 : 23:00)

GSK3ß‐dependent dysregulation of neurodevelopment in SPG11‐patient induced pluripotent stem cell model  Voir?

ObjectiveMutations in the spastic paraplegia gene 11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal‐recessive complex hereditary spastic paraplegia (HSP) and juvenile‐onset amyotrophic lateral sclerosis (ALS5). When SPG11 is mutated, patients frequently present with spastic paraparesis, a thin corpus callosum, and cognitive impairment. We previously delineated a neurodegenerative phenotype in neurons of these patients. In the current study, we recapitulated early developmental phenotypes of SPG11 and outlined their cellular and molecular mechanisms in patient‐specific induced pluripotent stem cell (iPSC)‐derived cortical neural progenitor cells (NPCs). MethodsWe generated and characterized iPSC‐derived NPCs and neurons from 3 SPG11 patients and 2 age‐mat...

... / ... Lire la suite

(05/05/2016 : 23:00)

Epileptic encephalopathy de novo GABRB mutations impair γ‐aminobutyric acid type A receptor function  Voir?

ObjectiveThe Epi4K Consortium recently identified 4 de novo mutations in the γ‐aminobutyric acid type A (GABAA) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox–Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology of EEs is often unknown, we determined the impact of GABRB mutations on GABAA receptor function and biogenesis. MethodsGABAA receptor α1 and γ2L subunits were coexpressed with wild‐type and/or mutant β3 or β1 subunits in HEK 293T cells. Currents were measured using whole cell and single channel patch clamp techniques. Surface and total expression levels were measured using flow cytometry. Potential structural perturbations in mutant GABAA receptors were explored u...

... / ... Lire la suite

(05/05/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(05/05/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(05/05/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(05/05/2016 : 23:00)

Annals of Neurology: Volume 79, Number 5, May 2016  Voir?

(Source: Annals of Neurology)
(05/05/2016 : 23:00)

Upregulation of inflammatory gene transcripts in periosteum of chronic migraineurs: Implications for extracranial origin of headache  Voir?

This study provides the first set of evidence for localized extracranial pathophysiology in CM. Ann Neurol 2016 (Source: Annals of Neurology)
(04/05/2016 : 23:00)

α‐synuclein genetic variability: A biomarker for dementia in Parkinson disease  Voir?

ObjectiveThe relationship between Parkinson disease (PD), PD with dementia (PDD), and dementia with Lewy bodies (DLB) has long been debated. Although PD is primarily considered a motor disorder, cognitive impairment is often present at diagnosis, and only ∼20% of patients remain cognitively intact in the long term. Alpha‐synuclein (SNCA) was first implicated in the pathogenesis of the disease when point mutations and locus multiplications were identified in familial parkinsonism with dementia. In worldwide populations, SNCA genetic variability remains the most reproducible risk factor for idiopathic PD. However, few investigators have looked at SNCA variability in terms of cognitive outcomes. MethodsWe have used targeted high‐throughput sequencing to characterize the 135kb SNCA locus...

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(04/05/2016 : 23:00)

An open letter concerning do‐it‐yourself (DIY) users of transcranial direct current stimulation (tDCS)  Voir?

(Source: Annals of Neurology)
(30/04/2016 : 23:00)

ErbB2 blockade with Herceptin (trastuzumab) enhances peripheral nerve regeneration after repair of acute or chronic peripheral nerve injury  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/04/2016 : 23:00)

PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

CSF RT‐QuIC is a robust and reliable test for sporadic CJD: An international study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

You Can Quote Me on This…  Voir?

(Source: Annals of Neurology)
(29/04/2016 : 23:00)

Prognostication of long‐term outcomes after subarachnoid hemorrhage: The FRESH‐score  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

Obstructive sleep apnea decreases central nervous system‐derived proteins in the cerebrospinal fluid  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

Elevated basal glutamate and unchanged glutamine and gaba in refractory epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

White matter integrity as a mediator in the relationship between dietary nutrients and cognition in the elderly  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

Recombinant human erythropoietin improves neurological outcomes in very preterm infants  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2016 : 23:00)

Patients with rosacea have increased risk of dementia  Voir?

ObjectiveRosacea is a common chronic inflammatory skin disorder where upregulation of matrix metalloproteinases (MMPs) and antimicrobial peptides (AMPs) is observed. Notably, inflammation, MMPs, and AMPs are also involved in the etiopathogenesis of neurodegenerative disorders including certain forms of dementia such as Alzheimer disease (AD). Based on several clinical observations, we investigated the association between rosacea and dementia, including AD in Danish registers. MethodsAll Danish citizens aged ≥18 years between January 1, 1997 and December 31, 2012 were linked at the individual level through administrative registers. Cox regression was used to calculate unadjusted and adjusted hazard ratios (HRs). ResultsThe study comprised a total of 5,591,718 individuals, including 82,439...

... / ... Lire la suite

(27/04/2016 : 23:00)

Reversible cerebral vasoconstriction syndromes and primary angiitis of the central nervous system: clinical, imaging, and angiographic comparison  Voir?

Reversible cerebral vasoconstriction syndromes (RCVS) and primary angiitis of the central nervous system (PACNS) are invariably considered in the differential diagnosis of new cerebral arteriopathies. However, prompt and accurate diagnosis remains challenging. Here we compared the features of 159 RCVS to 47 PACNS patients and developed criteria for prompt bedside diagnosis. Recurrent thunderclap headache (TCH), and single TCH combined with either normal neuroimaging, border zone infarcts, or vasogenic edema, have 100% positive predictive value for diagnosing RCVS or RCVS‐spectrum disorders. In patients without TCH and positive angiography, neuroimaging can discriminate RCVS (no lesion) from PACNS (deep/brainstem infarcts). Ann Neurol 2016 (Source: Annals of Neurology)

... / ... Lire la suite

(27/04/2016 : 23:00)

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/04/2016 : 23:00)

PKD or not PKD ‐ that is the question  Voir?

(Source: Annals of Neurology)
(20/04/2016 : 23:00)

Benzothiazole and stilbene derivatives as promising PET myelin radiotracers for multiple sclerosis  Voir?

(Source: Annals of Neurology)
(20/04/2016 : 23:00)

PiB and other amyloid‐PET tracers for the study of white matter and multiple sclerosis  Voir?

(Source: Annals of Neurology)
(20/04/2016 : 23:00)

Radiological–pathological correlation of diffusion tensor and magnetization transfer imaging in a closed head traumatic brain injury model  Voir?

This study investigated the radiological–pathological correlation between these imaging techniques and immunohistochemistry using a closed head rat model of TBI. MethodsTBI was performed on female rats followed longitudinally by magnetic resonance imaging (MRI) out to 30 days postinjury, with a subset of animals selected for histopathological analyses. A MRI‐based finite element analysis was generated to characterize the pattern of the mechanical insult and estimate the extent of brain injury to direct the pathological correlation with imaging findings. ResultsDTI axial diffusivity and fractional anisotropy (FA) were sensitive to axonal integrity, whereas radial diffusivity showed significant correlation to the myelin compactness. FA was correlated with astrogliosis in the gray matter,...

... / ... Lire la suite

(17/04/2016 : 23:00)

Upregulation of inflammatory gene transcripts in periosteum of chronic migraineurs: Implications to extracranial origin of headache  Voir?

This study provides the first set of evidence for localized extracranial pathophysiology in chronic migraine. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/04/2016 : 23:00)

Pathological α‐synuclein in gastrointestinal tissues from prodromal Parkinson disease patients  Voir?

This study investigates whether Lewy pathology is present in various gastrointestinal tract tissues from Parkinson disease patients in the prodromal phase. MethodsWe used the Danish National Pathology Registry to identify archived paraffin‐embedded tissue blocks from 57 Parkinson disease patients (98 blocks) and 90 control subjects (98 blocks). We employed 2 different immunohistochemistry techniques visualizing aggregated α‐synuclein and phosphorylated α‐synuclein. ResultsThirty‐nine Parkinson disease patients contributed tissues obtained in the prodromal disease phase, whereas 18 Parkinson disease patients contributed tissues obtained solely after Parkinson diagnosis. Prodromal tissues were obtained on average 7.0 years prior to diagnosis (range = 20 years to 4 months), and post...

... / ... Lire la suite

(08/04/2016 : 23:00)

Guideline authors' response to Dr Saper's idiopathic normal pressure hydrocephalus commentary  Voir?

(Source: Annals of Neurology)
(08/04/2016 : 23:00)

Reply  Voir?

(Source: Annals of Neurology)
(08/04/2016 : 23:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(07/04/2016 : 23:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(07/04/2016 : 23:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(07/04/2016 : 23:00)

Annals of Neurology: Volume 79, Number 4, April 2016  Voir?

(Source: Annals of Neurology)
(07/04/2016 : 23:00)

Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort  Voir?

ObjectiveArterial ischemic stroke (AIS) is an important cause of acquired brain injury in children. Few prospective population‐based studies of childhood AIS have been completed. We aimed to investigate the outcome of childhood AIS 12 months after the event in a population‐based cohort. MethodsChildren aged 29 days to < 16 years with radiologically confirmed AIS occurring over a 1‐year period residing in southern England (population = 5.99 million children) were eligible for inclusion. Outcome was assessed during a home visit using the Pediatric Stroke Outcome Measure (PSOM). Parental impressions of recovery were assessed using the Pediatric Stroke Recurrence and Recovery Questionnaire. PSOM score was estimated via telephone interview or clinician interview whenever home v...

... / ... Lire la suite

(04/04/2016 : 23:00)

Retraction: DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis  Voir?

The above Letter to the Editor from Annals of Neurology, published online as an Accepted Article on 4th April 2016 on Wiley Online Library (wileyonlinelibrary.com), has been withdrawn at the request of the authors with agreement from the journal editor, Clifford B. Saper, and Wiley Periodicals, Inc. The withdrawal has been agreed due to an acknowledgement from the authors that they inappropriately implied that material from the PD Gene and ALS Gene public databases and a figure from the Max Planck Society for the Advancement of Science was their own work.Reference Jiang, T., Zhang, Y‐D., Tan, L., and Yu, J‐T (2016) DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis. Ann Neurol. doi: 10.1002/ana.24658. (Source: Annals of Neurology)

... / ... Lire la suite

(03/04/2016 : 23:00)

DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis  Voir?

(Source: Annals of Neurology)
(03/04/2016 : 23:00)

The “Neuro” of Neuroblastoma: Neuroblastoma as a Neurodevelopmental Disorder  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/04/2016 : 23:00)

Physiology of Free Will  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/04/2016 : 23:00)

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/04/2016 : 23:00)

RCVS and PACNS: Clinical, imaging, and angiographic comparison  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/04/2016 : 23:00)

Targeting Coagulation Factor XII as a Novel Therapeutic Option in Brain Trauma  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/04/2016 : 23:00)

Predictors of long‐term disability accrual in relapse‐onset multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/03/2016 : 23:00)

Retraction: Yu et al. Retraction  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/03/2016 : 23:00)

Autoantibody pathogenicity in a multifocal motor neuropathy iPSC‐derived model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/03/2016 : 23:00)

Reply: Letter to the Editor  Voir?

(Source: Annals of Neurology)
(31/03/2016 : 23:00)

PKD_Not always nomina sunt consequentia rerum  Voir?

(Source: Annals of Neurology)
(31/03/2016 : 23:00)

α‐synuclein genetic variability: A biomarker for dementia in Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/03/2016 : 23:00)

Mutation‐specific effects on thin filament length in thin filament myopathy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(31/03/2016 : 23:00)

Shared genetic contribution to ischemic stroke and Alzheimer's disease  Voir?

ObjectiveIncreasing evidence suggests epidemiological and pathological links between Alzheimer's disease (AD) and ischemic stroke (IS). We investigated the evidence that shared genetic factors underpin the two diseases. MethodsUsing genome‐wide association study (GWAS) data from METASTROKE + (15,916 IS cases and 68,826 controls) and the International Genomics of Alzheimer's Project (IGAP; 17,008 AD cases and 37,154 controls), we evaluated known associations with AD and IS. On the subset of data for which we could obtain compatible genotype‐level data (4,610 IS cases, 1,281 AD cases, and 14,320 controls), we estimated the genome‐wide genetic correlation (rG) between AD and IS, and the three subtypes (cardioembolic, small vessel, and large vessel), using genome‐wide single‐nucl...

... / ... Lire la suite

(29/03/2016 : 23:00)

Prediction of awakening from hypothermic postanoxic coma based on auditory discrimination  Voir?

ObjectiveMost of the available clinical tests for prognosis of postanoxic coma are informative of poor outcome. Previous work has shown that an improvement in auditory discrimination over the first days of coma is predictive of awakening. Here, we aimed at evaluating this test on a large cohort of patients undergoing therapeutic hypothermia and at investigating its added value on existing clinical measures. MethodsWe recorded electroencephalographic responses to auditory stimuli in 94 comatose patients, under hypothermia and after rewarming to normal temperature. Auditory discrimination was semiautomatically quantified by decoding electroencephalographic responses to frequently repeated versus rare sounds. Outcome prediction was based on the change of decoding performance from hypothermia ...

... / ... Lire la suite

(29/03/2016 : 23:00)

Loss of Dorsolateral Nigral Hyperintensity on 3.0 Tesla Susceptibility‐Weighted Imaging in Idiopathic Rapid Eye Movement Sleep Behavior Disorder  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/03/2016 : 23:00)

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the Dominantly Inherited Alzheimer Network  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/03/2016 : 23:00)

Pathological alpha‐synuclein in gastrointestinal tissues from prodromal parkinson's disease patients  Voir?

This study investigates whether Lewy pathology is present in various gastrointestinal tract tissues from Parkinson's disease patients in the prodromal phase. Methods: We used the Danish National Pathology Registry, to identify archived paraffin embedded tissue blocks from 57 Parkinson's disease patients (98 blocks) and 90 control subjects (98 blocks). We employed two different immunohistochemistry techniques visualizing aggregated α ‐synuclein and phosphorylated α ‐synuclein. Results: Thirty‐nine Parkinson's disease patients contributed tissues obtained in the prodromal disease phase, whilst 18 Parkinson's disease patients contributed tissues obtained solely after Parkinson's diagnosis. Prodromal tissues were obtained on average 7.0 years prior to diagnosis (range: 20 years – 4 m...

... / ... Lire la suite

(25/03/2016 : 23:00)

Guideline Authors' Response to Dr. Saper's iNPH Commentary  Voir?

(Source: Annals of Neurology)
(22/03/2016 : 23:00)

Lack of association between MC1R variants and Parkinson disease in European descent  Voir?

(Source: Annals of Neurology)
(22/03/2016 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(22/03/2016 : 00:00)

Radiological‐pathological correlation of diffusion tensor and magnetization transfer imaging in closed head traumatic brain injury model  Voir?

This study investigated the radiological‐pathological correlation between these imaging techniques and immunohistochemistry using a closed head rat model of TBI. Methods TBI was performed on female rats followed longitudinally by MRI out to 30 days post‐injury, with a subset of animals selected for histopathological analyses. A MRI‐based finite element analysis was generated to characterize the pattern of the mechanical insult and estimate the extent of brain injury to direct the pathological correlation with imaging findings. Results DTI axial diffusivity and fractional anisotropy (FA) were sensitive to axonal integrity, while radial diffusivity showed significant correlation to the myelin compactness. FA was correlated to astrogliosis in the gray matter while mean diffusivity was c...

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(19/03/2016 : 00:00)

Human cerebral circuitry related to cardiac control: A neuroimaging meta‐analysis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/03/2016 : 00:00)

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2  Voir?

The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. MethodsTo efficiently identify novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese patients with CMT using whole‐exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening of the newly identified membrane metalloendopeptidase (MME) gene in 354 additional patients with CMT. We clinically, genetically, pathologically, and radiologically examined 10 patients with the MME mutation. ResultsWe identified recessive mutations in MME in 10 patients. The MME gene encodes neprilysin (NEP), which is well known to be one of the most prominent beta‐amyloid (Aβ)‐degrading enzy...

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(17/03/2016 : 00:00)

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients  Voir?

ObjectiveHereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum, prognostic factors, and genotype‐specific differences, we analyzed baseline data from a continuous, prospective cohort. MethodsWe recruited 608 HSP cases from 519 families of mostly German origin. Clinical severity was assessed by the Spastic Paraplegia Rating Scale. Complicating symptoms were recorded by a standardized inventory. ResultsFamily history indicated dominant (43%), recessive (10%), and simplex (47%) disease. We observed a significant male predominance, particularly in simplex cases without a genetic diagnosis. Disease severity increased with disease duration. Earlier disease onset was associated wit...

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(11/03/2016 : 00:00)

Adeno‐associated virus–delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model  Voir?

ObjectiveAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle weakness, paralysis, and death within 5 years of diagnosis. About 10% of cases are inherited, of which 20% are due to mutations in the superoxide dismutase 1 (SOD1) gene. Riluzole, the only US Food and Drug Administration–approved ALS drug, prolongs survival by only a few months. Experiments in transgenic ALS mouse models have shown decreasing levels of mutant SOD1 protein as a potential therapeutic approach. We sought to develop an efficient adeno‐associated virus (AAV)‐mediated RNAi gene therapy for ALS. MethodsA single‐stranded AAV9 vector encoding an artificial microRNA against human SOD1 was injected into the cerebral lateral...

... / ... Lire la suite

(11/03/2016 : 00:00)

GSK3ß‐dependent dysregulation of neurodevelopment in SPG11‐patient iPSC model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(11/03/2016 : 00:00)

Issue Information – Masthead  Voir?

(Source: Annals of Neurology)
(10/03/2016 : 00:00)

Issue Information – Table of Contents  Voir?

(Source: Annals of Neurology)
(10/03/2016 : 00:00)

Issue Information – Copyright  Voir?

(Source: Annals of Neurology)
(10/03/2016 : 00:00)

Annals of Neurology: Volume 79, Number 3, March 2016  Voir?

(Source: Annals of Neurology)
(10/03/2016 : 00:00)

Demyelination and Neurodegeneration in Multiple Sclerosis: The Role of Hypoxia  Voir?

(Source: Annals of Neurology)
(09/03/2016 : 00:00)

Reply to Letter to Editor ANA‐16‐0021 ‘Lack of association between MC1R variants and Parkinson's disease in European descent' by Jiang Q and Liu G  Voir?

(Source: Annals of Neurology)
(02/03/2016 : 00:00)

Lack of association between MC1R variants and Parkinson's disease in European descent  Voir?

(Source: Annals of Neurology)
(02/03/2016 : 00:00)

Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2016 : 00:00)

Enhancing Diversity in Academic Neurology: From Agnosia to Action  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2016 : 00:00)

Multimodal study of default‐mode network integrity in disorders of consciousness  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/03/2016 : 00:00)

Emergent properties of neural repair: Elemental biology to therapeutic concepts  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/02/2016 : 23:00)

Rituximab versus fingolimod after natalizumab in multiple sclerosis patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/02/2016 : 23:00)

Neurology Training in Sub‐Saharan Africa: A survey of people in training from 19 countries  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/02/2016 : 23:00)

Reply to Drs. Halperin, Gronseth, and Gloss  Voir?

(Source: Annals of Neurology)
(29/02/2016 : 23:00)

Prediction of awakening from hypothermic post anoxic coma based on auditory discrimination  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(23/02/2016 : 00:00)

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort  Voir?

ObjectiveThe aim of this study was to describe Duchenne muscular dystrophy (DMD) disease progression in the lower extremity muscles over 12 months using quantitative magnetic resonance (MR) biomarkers, collected across three sites in a large cohort. MethodsA total of 109 ambulatory boys with DMD (8.7 ± 2.0 years; range, 5.0–12.9) completed baseline and 1‐year follow‐up quantitative MR imaging (transverse relaxation time constant; MRI‐T2), MR spectroscopy (fat fraction and 1H2O T2), and 6‐minute walk test (6MWT) measurements. A subset of boys completed additional measurements after 3 or 6 months. ResultsMRI‐T2 and fat fraction increased significantly over 12 months in all age groups, including in 5‐ to 6.9‐year‐old boys. Significant increases in vastus lateralis (VL) ...

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(19/02/2016 : 00:00)

Comparative Effectiveness of Prestroke Aspirin on Stroke Severity and Outcome  Voir?

ObjectiveThe effect of prestroke aspirin use on initial severity, hemorrhagic transformation, and functional outcome of ischemic stroke is uncertain. MethodsUsing a multicenter stroke registry database, patients with acute ischemic stroke of three subtypes (large artery atherosclerosis [LAA], small vessel occlusion [SVO], or cardioembolism [CE]) were identified. NIH stroke scale (NIHSS) and hemorrhagic transformation at presentation and discharge modified Rankin Scale (mRS) were compared between prestroke aspirin users and nonusers. ResultsAmong the 10,433 patients, 1,914 (18.3%) reported prestroke aspirin use. On crude analysis, initial NIHSS scores of aspirin users were higher than nonusers (mean difference: 0.35; 95% confidence interval [CI]: 0.04–0.66). However, a multivariable analy...

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(19/02/2016 : 00:00)

Dynamic imaging of individual remyelination profiles in multiple sclerosis  Voir?

Conclusions: [11C]PIB PET allows quantification of myelin dynamics in MS and enables stratification of patients depending on their individual remyelination potential, which significantly correlates with clinical disability. This technique should be considered to assess novel promyelinating drugs. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(18/02/2016 : 00:00)

Epidemiology of aquaporin‐4 autoimmunity and neuromyelitis optica spectrum  Voir?

This study reports the highest prevalence of NMO/NMOSD in any population (10/100,000 in Martinique), estimates it affects 16,000‐17,000 in the USA (higher than previous predictions) and demonstrates it disproportionately affects blacks. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(17/02/2016 : 00:00)

Modulating myosin restores muscle function in a mouse model of nemaline myopathy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/02/2016 : 00:00)

Annals of Neurology: Volume 79, Number 2, February 2016  Voir?

(Source: Annals of Neurology)
(15/02/2016 : 00:00)

Mechanisms of immune escape in central nervous system infection with neurotropic JC virus variant  Voir?

ObjectiveSymptomatic infections of the central nervous system (CNS) with JC polyomavirus (JCV) usually occur as a result of immunocompromise and manifest as progressive multifocal leukoencephalopathy (PML) or granule cell neuronopathy (GCN). After immune reconstitution, some of these cases may show long‐term persistence of JCV and delayed clinical improvement despite inflammation. MethodsWe followed 4 patients with multiple sclerosis, who developed natalizumab‐associated PML or GCN with regard to JC viral load and JCV‐specific T‐cell responses in the CNS. All of them experienced immune reconstitution inflammatory syndrome (IRIS), but in 2 cases JCV persisted > 21 months after IRIS accompanied by delayed clinical improvement. ResultsPersistence of JCV was associated with a la...

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(13/02/2016 : 00:00)

Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606–618.  Voir?

(Source: Annals of Neurology)
(12/02/2016 : 00:00)

Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation  Voir?

(Source: Annals of Neurology)
(12/02/2016 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(12/02/2016 : 00:00)

Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy  Voir?

ObjectiveSuccinate dehydrogenase–deficient leukoencephalopathy is a complex II–related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed. MethodsNineteen individuals with succinate dehydrogenase deficiency–related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board–approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands). ResultsAll individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter with sparing of the...

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(12/02/2016 : 00:00)

Predictors and signatures of recovery from neglect in acute stroke  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(12/02/2016 : 00:00)

Compensatory neural mechanisms in cognitively unimpaired Parkinson disease  Voir?

ObjectiveCognitive impairments in Parkinson disease (PD) are thought to be caused in part by dopamine dysregulation. However, even when nigrostriatal dopamine neuron loss is severe enough to cause motor symptoms, many patients remain cognitively unimpaired. It is unclear what brain mechanisms allow these patients to remain cognitively unimpaired despite substantial dopamine dysregulation. MethodsThirty‐one cognitively unimpaired PD participants off dopaminergic medications were scanned using functional magnetic resonance imaging while they performed a working memory task, along with 23 controls. We first compared the PD off medication (PD_OFF) group with controls to determine whether PD participants engage compensatory frontostriatal mechanisms during working memory. We then studied the ...

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(10/02/2016 : 00:00)

Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy  Voir?

ObjectiveThe leading cause of epilepsy‐related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic risk factors in SUDEP cases, we performed an exome‐based analysis of rare variants. MethodsDemographic and clinical information of 61 SUDEP cases were collected. Exome sequencing and rare variant collapsing analysis with 2,936 control exomes were performed to test for genes enriched with damaging variants. Additionally, cardiac arrhythmia, respiratory control, and epilepsy genes were screened for variants with frequency of <0.1% and predicted to be pathogenic with multiple in silico tools. ResultsThe 61 SUDEP cases were categorized as definite SUDEP (n = 54), probable SUDEP (n = 5), and definite SUDEP plus (n = 2...

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(02/02/2016 : 00:00)

Transcranial Doppler versus transthoracic echocardiography for the detection of patent foramen ovale in patients with cryptogenic cerebral ischemia: A systematic review and diagnostic test accuracy meta‐analysis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(02/02/2016 : 00:00)

Clinicopathological features in anterior visual pathway in neuromyelitis optica  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(02/02/2016 : 00:00)

Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

In vivo imaging reveals rapid astrocyte depletion and axon damage in a model of neuromyelitis optica‐related pathology  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

APOE2 eases cognitive decline during aging: clinical and preclinical evaluations  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population‐based cohort  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

Shared genetic contribution to Ischaemic Stroke and Alzheimer's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

AAV delivered artificial microRNA extends survival and delays paralysis in an Amyotrophic Lateral Sclerosis mouse model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

A new kind of spatial inattention associated with chronic limb pain?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/02/2016 : 00:00)

Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons  Voir?

ObjectiveTo determine the extent of respiratory chain abnormalities and investigate the contribution of mtDNA to the loss of respiratory chain complexes (CI–IV) in the substantia nigra (SN) of idiopathic Parkinson disease (IPD) patients at the single‐neuron level. MethodsMultiple‐label immunofluorescence was applied to postmortem sections of 10 IPD patients and 10 controls to quantify the abundance of CI–IV subunits (NDUFB8 or NDUFA13, SDHA, UQCRC2, and COXI) and mitochondrial transcription factors (TFAM and TFB2M) relative to mitochondrial mass (porin and GRP75) in dopaminergic neurons. To assess the involvement of mtDNA in respiratory chain deficiency in IPD, SN neurons, isolated with laser‐capture microdissection, were assayed for mtDNA deletions, copy number, and presence of ...

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(28/01/2016 : 00:00)

Botulinum Toxin Type A for Neuropathic Pain in Patients with Spinal Cord Injury  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/01/2016 : 00:00)

Metabolic Crisis occurs with Seizures and Periodic Discharges after Brain Trauma  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/01/2016 : 00:00)

In memoriam: Richard T. Johnson, 1931–2015  Voir?

(Source: Annals of Neurology)
(19/01/2016 : 00:00)

Annals of Neurology: Volume 79, Number 1, January 2016  Voir?

ON THE COVER: Tau PET study from a 70 year‐old individual with a diagnosis of Mild Cognitive Impairment due to Alzheimer's disease, on the basis of a history of progressive memory impairment and elevated brain amyloid. Coronal PET image with the tau tracer 18F T807 (also known as AV1451; superimposed on MRI) shows high binding in red, localized in temporal neocortex, most prominently in inferior temporal gyrus bilaterally, with extension into middle and superior temporal gyri. The pattern of 18F T807 cortical binding is consistent with neurofibrillary tangle stage III/IV of Braak and Braak. For more information, see the article by Johnson et al. (pages 110–119). (Source: Annals of Neurology)

... / ... Lire la suite

(19/01/2016 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(19/01/2016 : 00:00)

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease  Voir?

(Source: Annals of Neurology)
(19/01/2016 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(19/01/2016 : 00:00)

What Is the Optimal Sequence of Rescue Treatments for Attacks of Neuromyelitis Optica Spectrum Disorder?  Voir?

(Source: Annals of Neurology)
(14/01/2016 : 00:00)

Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions  Voir?

ObjectiveDespite evidence suggesting that the cerebellum may be targeted in amyotrophic lateral sclerosis (ALS), particularly in cases with repeat expansions in the ATXN2 and C9ORF72 genes, the integrity of cerebellar neurons has yet to be examined. The present study undertakes a histopathological analysis to assess the impact of these repeat expansions on cerebellar neurons and determine whether similar cerebellar pathology occurs in sporadic disease. MethodsPurkinje and granule cells were quantified in the vermis and lateral cerebellar hemispheres of ALS cases with repeat expansions in the ATXN2 and C9ORF72 genes, sporadic disease, and sporadic progressive muscular atrophy with only lower motor neuron degeneration. ResultsALS cases with intermediate repeat expansions in the ATXN2 gene de...

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(14/01/2016 : 00:00)

MORC2 mutations cause axonal Charcot–Marie–Tooth disease with pyramidal signs  Voir?

ObjectiveTo use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot–Marie–Tooth disease type 2 (CMT2) and pyramidal signs. MethodsGenome‐wide linkage analysis was performed to map the locus. Whole exome sequencing was undertaken on selected individuals (3 affected, 1 normal), and segregation analysis and mutation screening were carried out using high‐resolution melt analysis. The GEM.app database was queried to identify additional families with mutations. ResultsSignificant linkage (2‐point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6Mb interval on chromosome 22q12.1–q12.3. Whole exome sequencing identified a novel mutation (p.R252W) in the mic...

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(13/01/2016 : 00:00)

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy  Voir?

ObjectiveSpinal muscular atrophy (SMA) is a major inherited cause of infant death worldwide. It results from mutations in a single, ubiquitously expressed gene (SMN1), with loss of lower motor neurons being the primary pathological signature. Systemic defects have also been reported in SMA patients and animal models. We investigated whether defects associated with the vasculature contribute to motor neuron pathology in SMA. MethodsDevelopment and integrity of the capillary bed was examined in skeletal muscle and spinal cord of SMA mice, and muscle biopsies from SMA patients and controls, using quantitative morphometric approaches on immunohistochemically labeled tissue. Pimonidazole hydrochloride–based assays were used to identify functional hypoxia. ResultsThe capillary bed in muscle an...

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(13/01/2016 : 00:00)

Midazolam dose correlates with abnormal hippocampal growth and neurodevelopmental outcome in preterm infants  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(11/01/2016 : 00:00)

Corrigendum: Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia. Swanson MA et al. Ann Neurol 2015;78:606‐618  Voir?

(Source: Annals of Neurology)
(11/01/2016 : 00:00)

Response to Chong et al Letter to the Editor  Voir?

(Source: Annals of Neurology)
(09/01/2016 : 00:00)

Ineffective Quinidine Therapy in Early‐onset Epileptic Encephalopathy with KCNT1 Mutation  Voir?

(Source: Annals of Neurology)
(09/01/2016 : 00:00)

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy  Voir?

ObjectiveTo continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression of eteplirsen‐treated patients was compared to matched historical controls (HC). MethodsAmbulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open‐label basis. The primary functional assessment in this study was the 6‐Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline an...

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(08/01/2016 : 00:00)

Impact of medical academic genealogy on publication patterns: An analysis of the literature for surgical resection in brain tumor patients  Voir?

“Academic genealogy” refers to the linking of scientists and scholars based on their dissertation supervisors. We propose that this concept can be applied to medical training and that this “medical academic genealogy” may influence the landscape of the peer‐reviewed literature. We performed a comprehensive PubMed search to identify US authors who have contributed peer‐reviewed articles on a neurosurgery topic that remains controversial: the value of maximal resection for high‐grade gliomas (HGGs). Training information for each key author (defined as the first or last author of an article) was collected (eg, author's medical school, residency, and fellowship training). Authors were recursively linked to faculty mentors to form genealogies. Correlations between genealogy and pu...

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(04/01/2016 : 00:00)

How to Determine if You Have Succeeded at Neurology Residency  Voir?

(Source: Annals of Neurology)
(01/01/2016 : 00:00)

Hereditary Spastic Paraplegia –clinico‐genetic lessons from 608 patients  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/01/2016 : 00:00)

Extended motor evoked potentials monitoring helps prevent delayed paraplegia after aortic surgery  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/01/2016 : 00:00)

Cause and prevention of demyelination in a model multiple sclerosis lesion  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/01/2016 : 00:00)

The Emperor Has No Clothes  Voir?

(Source: Annals of Neurology)
(01/01/2016 : 00:00)

Free fatty acid as an outcome predictor of atrial fibrillation–associated stroke  Voir?

ObjectiveWe investigated whether baseline plasma free fatty acid (FFA) concentration is associated with any (ischemic/hemorrhagic) stroke, ischemic stroke/systemic embolism (ISSE), or ischemic stroke among stroke survivors with atrial fibrillation (A‐fib). Moreover, we compared the outcome predictability of FFA with previously adopted models, including the CHADS2 and CHA2DS2‐VASc scoring systems. MethodsWe analyzed data from 279 stroke patients with A‐fib and investigated the association between plasma FFA concentration and outcomes using Cox regression models with competing risk analyses. ResultsMedian follow‐up period was 17.5 months. During the study period, any stroke, ISSE, and ischemic stroke occurred in 22, 21, and 17 patients, respectively. The cumulative risk for any strok...

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(29/12/2015 : 00:00)

Primary Progressive Multiple Sclerosis Evolving From Radiologically Isolated Syndrome  Voir?

ObjectiveThe aim of this work was to evaluate the preprogressive phase in subjects with radiologically isolated syndrome (RIS) who evolve to primary progressive multiple sclerosis (PPMS). MethodsA multicenter RIS cohort was previously established. Demographic, clinical, and radiological characteristics of subjects with RIS that evolved directly to PPMS were compared to those that developed a relapsing disease course from onset (clinically isolated syndrome [CIS] or relapsing‐remitting MS) and were also compared to two other population‐ and clinic‐based PPMS cohorts. ResultsOf the 453 subjects with RIS, 128 evolved to symptomatic MS during the follow‐up (113 developed a first acute clinical event consistent with CIS/MS, 15 evolved to PPMS). PPMS prevalence (11.7%) and onset age (mea...

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(29/12/2015 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(25/12/2015 : 00:00)

Is fresh frozen plasma as good as prothrombin complex concentrate for vitamin K antagonist reversal in acute intracerebral hemorrhage?  Voir?

(Source: Annals of Neurology)
(25/12/2015 : 00:00)

Deep clinical and neuropathological phenotyping of Pick disease  Voir?

ObjectiveTo characterize sequential patterns of regional neuropathology and clinical symptoms in a well‐characterized cohort of 21 patients with autopsy‐confirmed Pick disease. MethodsDetailed neuropathological examination using 70μm and traditional 6μm sections was performed using thioflavin‐S staining and immunohistochemistry for phosphorylated tau, 3R and 4R tau isoforms, ubiquitin, and C‐terminally truncated tau. Patterns of regional tau deposition were correlated with clinical data. In a subset of cases (n = 5), converging evidence was obtained using antemortem neuroimaging measures of gray and white matter integrity. ResultsFour sequential patterns of pathological tau deposition were identified starting in frontotemporal limbic/paralimbic and neocortical regions (phase I). ...

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(25/12/2015 : 00:00)

Travel Index Response  Voir?

(Source: Annals of Neurology)
(24/12/2015 : 00:00)

How to Determine if You Have Succeeded at Neurology Residency  Voir?

(Source: Annals of Neurology)
(24/12/2015 : 00:00)

Response To Treatment In A Prospective National Infantile Spasms Cohort  Voir?

This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status. Methods: The National Infantile Spasms Consortium established a multi‐center, prospective database enrolling infants with new diagnosis of infantile spasms. Children were considered responders if there was clinical remission and resolution of hypsarhythmia that was sustained at three months after first treatment initiation. Standard treatments of ACTH, oral corticosteroids, and vigabatrin were considered individually, and all other non‐standard therapies were analyzed collectively. Developmental status and etiology were assessed. We...

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(24/12/2015 : 00:00)

Prevalence and Determinants of Periodic Limb Movements in the General Population  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/12/2015 : 00:00)

Reply to Letter by Dr. Elsayed and colleagues  Voir?

(Source: Annals of Neurology)
(24/12/2015 : 00:00)

A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile‐onset Parkinson disease  Voir?

(Source: Annals of Neurology)
(24/12/2015 : 00:00)

REST rs3796529 variant does not influence human subcortical brain structures  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/12/2015 : 00:00)

A reply to “To travel or not to travel: The modern day struggle of the academic researcher”  Voir?

(Source: Annals of Neurology)
(24/12/2015 : 00:00)

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/12/2015 : 00:00)

Intraspinal Stem Cell Transplantation for Amyotrophic Lateral Sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/12/2015 : 00:00)

Melanopsin retinal ganglion cell loss in Alzheimer disease  Voir?

ObjectiveMelanopsin retinal ganglion cells (mRGCs) are photoreceptors driving circadian photoentrainment, and circadian dysfunction characterizes Alzheimer disease (AD). We investigated mRGCs in AD, hypothesizing that they contribute to circadian dysfunction. MethodsWe assessed retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in 21 mild‐moderate AD patients, and in a subgroup of 16 we evaluated rest–activity circadian rhythm by actigraphy. We studied postmortem mRGCs by immunohistochemistry in retinas, and axons in optic nerve cross‐sections of 14 neuropathologically confirmed AD patients. We coimmunostained for retinal amyloid β (Aβ) deposition and melanopsin to locate mRGCs. All AD cohorts were compared with age‐matched controls. ResultsWe demons...

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(18/12/2015 : 00:00)

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis  Voir?

Neurofilaments are elevated in the cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients. However, timing of this increase is unknown. To characterize the premanifest disease phase, we performed a cross‐sectional study on asymptomatic (n = 12) and symptomatic (n = 64) ALS mutation carriers and family controls (n = 19). Neurofilaments NF‐L (neurofilament–light chain) and pNF‐H (phosphorylated neurofilament–heavy chain) are normal before symptom onset and increased by at least an order of magnitude at early symptom onset in CSF (pNF‐H) or serum and CSF (NF‐L). Thus, blood and CSF neurofilament levels are linked to the symptomatic phase of ALS and might serve as objective markers of structural damage to the nervous system. Ann Neurol 201...

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(17/12/2015 : 00:00)

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/12/2015 : 00:00)

A clinic devoted to peer victimization in special needs children  Voir?

(Source: Annals of Neurology)
(17/12/2015 : 00:00)

Discriminating long myelitis of neuromyelitis optica from sarcoidosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/12/2015 : 00:00)

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy  Voir?

This study broadens the genetic and clinical spectrum of distal myopathy and will be useful for exact molecular diagnostics. Ann Neurol 2015 (Source: Annals of Neurology)
(15/12/2015 : 00:00)

Tau positron emission tomographic imaging in aging and early Alzheimer disease  Voir?

ObjectiveDetection of focal brain tau deposition during life could greatly facilitate accurate diagnosis of Alzheimer disease (AD), staging and monitoring of disease progression, and development of disease‐modifying therapies. MethodsWe acquired tau positron emission tomography (PET) using 18F T807 (AV1451), and amyloid‐β PET using 11C Pittsburgh compound B (PiB) in older clinically normal individuals, and symptomatic patients with mild cognitive impairment or mild AD dementia. ResultsWe found abnormally high cortical 18F T807 binding in patients with mild cognitive impairment and AD dementia compared to clinically normal controls. Consistent with the neuropathology literature, the presence of elevated neocortical 18F T807 binding particularly in the inferior temporal gyrus was associ...

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(15/12/2015 : 00:00)

Near‐infrared light is neuroprotective in a monkey model of Parkinson disease  Voir?

ObjectiveTo examine whether near‐infrared light (NIr) treatment reduces clinical signs and/or offers neuroprotection in a subacute 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP) monkey model of Parkinson disease. MethodsWe implanted an optical fiber device that delivered NIr (670nm) to the midbrain of macaque monkeys, close to the substantia nigra of both sides. MPTP injections (1.5–2.1mg/kg) were made over a 5‐ to 7‐day period, during which time the NIr device was turned on. This was then followed by a 3‐week survival period. Monkeys were evaluated clinically (eg, posture, bradykinesia) and behaviorally (open field test), and their brains were processed for immunohistochemistry and stereology. ResultsAll monkeys in the MPTP group developed severe clinical and beha...

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(12/12/2015 : 00:00)

Reply  Voir?

(Source: Annals of Neurology)
(12/12/2015 : 00:00)

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy  Voir?

In this study, we investigated whether mutations in the mammalian target of rapamycin (mTOR) regulators, NPRL2 and NPRL3, also contribute to cases of focal epilepsy. MethodsWe used targeted capture and next‐generation sequencing to analyze 404 unrelated probands with focal epilepsy. We performed exome sequencing on two families with multiple members affected with focal epilepsy and linkage analysis on one of these. ResultsIn our cohort of 404 unrelated focal epilepsy patients, we identified five mutations in NPRL2 and five in NPRL3. Exome sequencing analysis of two families with focal epilepsy identified NPRL2 and NPRL3 as the top candidate‐causative genes. Some patients had focal epilepsy associated with brain malformations. We also identified 18 new mutations in DEPDC5. Interpretatio...

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(12/12/2015 : 00:00)

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3  Voir?

We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permease regulator‐like 3 (NPRL3). NPRL3 is a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling pathway. Immunostaining of resected brain tissue demonstrated mammalian target of rapamycin activation. Screening of 52 unrelated individuals with FCD identified 2 additional patients with FCDIIa and germline NPRL3 mutations. Similar to DEPDC5, NPRL3 mutations may be considered as causal variants in patients with FCD or magnetic resonance imaging–negative focal epilepsy. Ann N...

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(12/12/2015 : 00:00)

Genes and Environment in Multiple Sclerosis project: A platform to investigate multiple sclerosis risk  Voir?

The Genes and Environment in Multiple Sclerosis project establishes a platform to investigate the events leading to multiple sclerosis (MS) in at‐risk individuals. It has recruited 2,632 first‐degree relatives from across the USA. Using an integrated genetic and environmental risk score, we identified subjects with twice the MS risk when compared to the average family member, and we report an initial incidence rate in these subjects that is 30 times greater than that of sporadic MS. We discuss the feasibility of large‐scale studies of asymptomatic at‐risk subjects that leverage modern tools of subject recruitment to execute collaborative projects. Ann Neurol 2015 (Source: Annals of Neurology)

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(09/12/2015 : 00:00)

Annals of Neurology: Volume 78, Number 6, December 2015  Voir?

ON THE COVER Notch3 aggregation is one of the important hallmarks of CADASIL. Confocal microscopy image here shows Notch3 extra cellular domain aggregates (magenta) in the proximity of PDGFRβ‐positive pericytes (red) on lectin‐positive capillaries (green) in a 12‐month‐old transgenic CADASIL mouse brain section. For more information, see the article by Ghosh et al. (pages 887–900). (Source: Annals of Neurology)

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(07/12/2015 : 00:00)

The brain as immunoprecipitator of serum autoantibodies against N‐Methyl‐D‐aspartate receptor subunit NR1  Voir?

Autoantibodies (AB) against N‐methyl‐D‐aspartate receptor subunit NR1 (NMDAR1) are highly seroprevalent in health and disease. Symptomatic relevance may arise upon compromised blood–brain barrier (BBB). However, it remained unknown whether circulating NMDAR1 AB appear in the cerebrospinal fluid (CSF). Of n = 271 subjects with CSF–serum pairs, 26 were NMDAR1 AB seropositive, but only 1 was CSF positive. Contrariwise, tetanus AB (non–brain‐binding) were present in serum and CSF of all subjects, with CSF levels higher upon BBB dysfunction. Translational mouse experiments proved the hypothesis that the brain acts as an ‘immunoprecipitator’; simultaneous injection of NMDAR1 AB and the non–brain‐binding green fluorescent protein AB resulted in high detectability of the ...

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(02/12/2015 : 00:00)

Comparative Effectiveness of Pre‐stroke Aspirin on Stroke Severity and Outcome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

Response to “REST rs3796529 variant does not influence human subcortical brain structures”  Voir?

(Source: Annals of Neurology)
(01/12/2015 : 00:00)

Exome‐based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

Compensatory Neural Mechanisms in Cognitively Unimpaired Parkinson's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

A 44‐year‐old man with eye, kidney, and brain dysfunction  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease  Voir?

(Source: Annals of Neurology)
(01/12/2015 : 00:00)

Passages 2016  Voir?

(Source: Annals of Neurology)
(01/12/2015 : 00:00)

Richard T. Johnson, 1931‐2015  Voir?

(Source: Annals of Neurology)
(01/12/2015 : 00:00)

MORC2 mutations cause axonal Charcot‐Marie‐Tooth disease with pyramidal signs  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

MRI spectrum of Succinate Dehydrogenase‐related infantile leukoencephalopathy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/12/2015 : 00:00)

Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons  Voir?

ObjectiveIn the present report, the correlations between ex vivo high‐resolution imaging and specific histological and ultrastructural patterns in type II focal cortical dysplasia (FCD) have been studied to explain the differences in the magnetic resonance imaging (MRI) detection of dysplasia and to contribute to the presurgical imaging evaluation of this pathology. MethodsSurgical specimens from 13 patients with FCD IIa/b were submitted to 7T MRI scanning, and then analyzed histologically and ultrastructurally to compare the results with the MRI findings. Region of interest (ROI)‐based measures on T2‐weighted images (T2wi) were quantitatively evaluated in the lesion and in adjacent perilesional gray and white matter. ResultsMatched histological sections and 7T T2wi showed that the c...

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(26/11/2015 : 00:00)

Neuromyelitis optica: Evaluation of 871 attacks and 1,153 treatment courses  Voir?

ObjectiveNeuromyelitis optica (NMO) attacks often are severe, are difficult to treat, and leave residual deficits. Here, we analyzed the frequency, sequence, and efficacy of therapies used for NMO attacks. MethodsA retrospective review was made of patient records to assess demographic/diagnostic data, attack characteristics, therapies, and the short‐term remission status (complete remission [CR], partial remission [PR], no remission [NR]). Inclusion criteria were NMO according to Wingerchuk's 2006 criteria or aquaporin‐4 antibody–positive NMO spectrum disorder (NMOSD). Remission status was analyzed with generalized estimating equations (GEEs), a patient‐based statistical approach. ResultsA total of 871 attacks in 185 patients (142 NMO/43 NMOSD, 82% female) were analyzed. The 1,153 ...

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(26/11/2015 : 00:00)

Mitochondrial DNA depletion in respiratory chain‐deficient Parkinson disease neurons  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/11/2015 : 00:00)

Activation of specific neuronal networks leads to different seizure onset types  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/11/2015 : 00:00)

Free fatty acid as an outcome predictor of atrial fibrillation‐associated stroke  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/11/2015 : 00:00)

Primary Progressive MS evolving from Radiologically Isolated Syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/11/2015 : 00:00)

Cerebellar neuronal loss in als cases with ATXN2 intermediate repeat expansions  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/11/2015 : 00:00)

Is in vivo amyloid distribution asymmetric in primary progressive aphasia?  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/11/2015 : 00:00)

Reply to Letter by Dr Bucko and colleagues  Voir?

(Source: Annals of Neurology)
(19/11/2015 : 00:00)

Deep Clinical and Neuropathological Phenotyping of Pick's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/11/2015 : 00:00)

GEMS Project: A Platform to Investigate Multiple Sclerosis Risk  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(19/11/2015 : 00:00)

Tranexamic acid–associated seizures: Causes and treatment  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/11/2015 : 00:00)

Quinidine in the treatment of KCNT1‐positive epilepsies  Voir?

We report 2 patients with drug‐resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epile...

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(18/11/2015 : 00:00)

Activation of the motor cortex during phasic rapid eye movement sleep  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(17/11/2015 : 00:00)

Magnetic Resonance Neurography Detects Diabetic Neuropathy Early and With Proximal Predominance  Voir?

ObjectiveThe aim of this work was to localize and quantify alterations of nerve microstructure in diabetic polyneuropathy (DPN) by magnetic resonance (MR) neurography with large anatomical coverage. MethodsPatients (N = 25) with mild‐to‐moderate (Neuropathy‐Symptom‐Score [NSS]/Neuropathy Deficit Score [NDS] 3.8 ± 0.3/2.6 ± 0.5) and patients (n = 10) with severe DPN (6.2 ± 0.6/7.4 ± 0.5) were compared to patients (n = 15) with diabetes but no DPN and to age‐/sex‐matched nondiabetic controls (n = 25). All subjects underwent MR neurography with large spatial coverage and high resolution from spinal nerve to ankle level: four slabs per leg, each with 35 axial slices (T2‐ and proton‐density–weighted two dimensional turbo‐spin‐echo sequen...

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(14/11/2015 : 00:00)

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay  Voir?

This study aimed to identify new mutations in a large population of ataxic patients and to functionally analyze their cellular effects in the mitochondrial compartment. MethodsA total of 321 index patients with spastic ataxia selected from the SPATAX network were analyzed by direct sequencing of the SACS gene, and 156 patients from the ATAXIC project presenting with congenital ataxia were investigated either by targeted or whole exome sequencing. For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono‐ or biallelic variants, including 1 case harboring a large deletion encompassing the entire SACS gene. ResultsWe identified biallelic SACS variants in 33 patients from SPATAX, and in 5 nonprogressive ataxia patients from ATAXIC. Moreover,...

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(14/11/2015 : 00:00)

Does Vagotomy Reduce the Risk of Parkinson's Disease: The Authors Reply  Voir?

(Source: Annals of Neurology)
(14/11/2015 : 00:00)

Simvastatin and vitamin D for migraine prevention: A randomized, controlled trial  Voir?

ObjectiveThe aim of this work was to assess efficacy and tolerability of simvastatin plus vitamin D for migraine prevention in adults with episodic migraine. MethodsWe performed a randomized, double‐blind, placebo‐controlled trial with a 12‐week baseline period and 24‐week intervention period in 57 adults with episodic migraine. Participants were randomly assigned to simvastatin 20 mg tablets twice‐daily plus vitamin D3 1,000 international units capsules twice‐daily or matching placebo tablets and capsules. ResultsCompared to placebo, participants using simvastatin plus vitamin D3 demonstrated a greater decrease in number of migraine days from the baseline period to intervention weeks 1 to 12: a change of –8.0 (interquartile range [IQR]: −15.0 to −2.0) days in the activ...

... / ... Lire la suite

(13/11/2015 : 00:00)

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early‐stage Parkinson's disease  Voir?

The identification of cell‐free circulating mitochondrial DNA (ccf‐mtDNA) in early‐stage Alzheimer's disease (AD) raised the possibility that the same neurodegenerative effect could be observed in Parkinson's disease (PD). Here, and for the first time, we investigated the role of ccf‐mtDNA in PD, identifying a significant reduction of ccf‐mtDNA in PD patient cerebrospinal fluid (CSF) when compared to controls. Our data demonstrates that CSF ccf‐mtDNA is not only a powerful biomarker for PD, but, given that the effect is also observed in AD, is likely a biomarker for neurodegeneration. Ann Neurol 2015 (Source: Annals of Neurology)

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(13/11/2015 : 00:00)

DNAJC6 mutations associated with early‐onset Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(03/11/2015 : 00:00)

Skin nerve misfolded α‐synuclein in pure autonomic failure and Parkinson disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/11/2015 : 00:00)

Is FFP as good as PCC for vitamin K antagonist reversal in acute intracerebral hemorrhage?  Voir?

(Source: Annals of Neurology)
(01/11/2015 : 00:00)

What is the optimal sequence of rescue treatments for attacks of NMOSD?  Voir?

(Source: Annals of Neurology)
(01/11/2015 : 00:00)

Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/11/2015 : 00:00)

Neuromyelitis optica: Evaluation of 871 attacks and 1153 treatment courses  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/11/2015 : 00:00)

Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/11/2015 : 00:00)

Corticospinal tract lesion load: An imaging biomarker for stroke motor outcomes  Voir?

ObjectiveThe aim of this work was to investigate whether an imaging measure of corticospinal tract (CST) injury in the acute phase can predict motor outcome at 3 months in comparison to clinical assessment of initial motor impairment. MethodsA two‐site prospective cohort study followed up a group of first‐ever ischemic stroke patients using the Upper‐Extremity Fugl‐Meyer (UE‐FM) Scale to measure motor impairment in the acute phase and at 3 months. A weighted CST lesion load (wCST‐LL) was calculated by overlaying the patient's lesion map on magnetic resonance imaging with a probabilistic CST constructed from healthy control subjects. Regression models were fit to assess the predictive value of wCST‐LL and compared with initial motor impairment. ResultsSeventy‐six patients (3...

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(31/10/2015 : 00:00)

Reduced integration and differentiation of the imitation network in autism: A combined functional connectivity magnetic resonance imaging and diffusion‐weighted imaging study  Voir?

ObjectiveConverging evidence indicates that brain abnormalities in autism spectrum disorder (ASD) involve atypical network connectivity, but few studies have integrated functional with structural connectivity measures. This multimodal investigation examined functional and structural connectivity of the imitation network in children and adolescents with ASD, and its links with clinical symptoms. MethodsResting state functional magnetic resonance imaging and diffusion‐weighted imaging were performed in 35 participants with ASD and 35 typically developing controls, aged 8 to 17 years, matched for age, gender, intelligence quotient, and head motion. ResultsWithin‐network analyses revealed overall reduced functional connectivity (FC) between distributed imitation regions in the ASD group. W...

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(31/10/2015 : 00:00)

Leigh Syndrome: One disorder, more than 75 monogenic causes  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(28/10/2015 : 17:24)

Mutations in the mTOR pathway regulators NPRL2 and NPRL3 cause focal epilepsy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 17:39)

Vascular defects and spinal cord hypoxia in spinal muscular atrophy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 00:00)

ADSSL1 mutation relevant to autosomal recessive adolescent‐onset distal myopathy  Voir?

This study broadens the genetic and clinical spectrum of distal myopathy and will be useful for exact molecular diagnostics. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 00:00)

The brain as ′immunoprecipitator′ of serum autoantibodies against NMDAR1  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 00:00)

Tau PET imaging in aging and early Alzheimer's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 00:00)

Melanopsin retinal ganglion cell loss in Alzheimer's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/10/2015 : 00:00)

Annals of Neurology: Volume 78, Number 5, November 2015  Voir?

ON THE COVER: Definitive diagnosis of rare causes of infectious encephalitis often relies on tissue from brain biopsies, such as this immunohistochemical stain showing free‐living Balmuthia mandrillaris trophozoites surrounding a cerebral blood vessel, in a case of Balmuthia encephalitis (Courtesy of Dr. M.K. Keating, Centers for Disease Control and Prevention). Wilson and colleagues, on page 722 in this issue, show how deep sequencing of DNA from cerebrospinal fluid can make this diagnosis, and may make this sort of brain biopsy unnecessary in the future. (Source: Annals of Neurology)

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(24/10/2015 : 01:00)

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders  Voir?

In this study, we investigated whether GDF‐15 is a more useful biomarker for MDs than several conventional biomarkers. MethodsWe measured the serum levels of GDF‐15 and fibroblast growth factor 21 (FGF‐21), as well as other biomarkers, in 48 MD patients and in 146 healthy controls in Japan. GDF‐15 and FGF‐21 concentrations were measured by enzyme‐linked immunosorbant assay and compared with lactate, pyruvate, creatine kinase, and the lactate‐to‐pyruvate ratio. We calculated sensitivity and specificity and also evaluated the correlation based on two rating scales, including the Newcastle Mitochondrial Disease Rating Scale (NMDAS). ResultsMean GDF‐15 concentration was 6‐fold higher in MD patients compared to healthy controls (2,711 ± 2,459 pg/ml vs 462.5 ± 141.0 pg/mL; ...

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(14/10/2015 : 01:00)

Diffusion‐weighted imaging in transient neurological attacks  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(08/10/2015 : 01:00)

Type II FCD: ex vivo 7 Tesla MRI abnormalities and histopathological comparisons  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(08/10/2015 : 01:00)

Pericytes are involved in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy  Voir?

ObjectiveCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common inherited small‐vessel disease, is associated with vascular aggregation of mutant Notch3 protein, dysfunction of cerebral vessels, and dementia. Pericytes, perivascular cells involved in microvascular function, express Notch3. Therefore, we hypothesize that these cells may play a role in the pathogenesis of CADASIL. MethodsTwo‐, 7‐, and 12‐month‐old CADASIL mutant mice (TgNotch3R169C) and wild‐type controls were examined regarding Notch3 aggregation in pericytes, the coverage of cerebral vessels by pericytes, pericyte numbers, capillary density, blood–brain barrier (BBB) integrity, astrocytic end‐feet, and the expression of astrocytic gap junction a...

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(07/10/2015 : 01:00)

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in france  Voir?

ObjectiveTo compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. MethodsWe compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression. ResultsBy comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP showed more rapid and severe ...

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(07/10/2015 : 01:00)

Ischemic core and hypoperfusion volumes predict infarct size in SWIFT PRIME  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/10/2015 : 01:00)

Near‐infrared light is neuroprotective in a monkey model of Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/10/2015 : 01:00)

Recognizing the Problem of Delayed Entry in Time‐to‐Event Studies: Better Late than Never for Clinical Neuroscientists  Voir?

(Source: Annals of Neurology)
(01/10/2015 : 01:00)

GATA1‐mediated transcriptional regulation of the γ‐secretase activating protein increases Aβ formation in Down syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/10/2015 : 01:00)

The proportional recovery rule for stroke revisited  Voir?

(Source: Annals of Neurology)
(01/10/2015 : 01:00)

Optical coherence tomography reflects brain atrophy in multiple sclerosis: A four‐year study  Voir?

ObjectiveThe aim of this work was to determine whether atrophy of specific retinal layers and brain substructures are associated over time, in order to further validate the utility of optical coherence tomography (OCT) as an indicator of neuronal tissue damage in patients with multiple sclerosis (MS). MethodsCirrus high‐definition OCT (including automated macular segmentation) was performed in 107 MS patients biannually (median follow‐up: 46 months). Three‐Tesla magnetic resonance imaging brain scans (including brain‐substructure volumetrics) were performed annually. Individual‐specific rates of change in retinal and brain measures (estimated with linear regression) were correlated, adjusting for age, sex, disease duration, and optic neuritis (ON) history. ResultsRates of ganglio...

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(01/10/2015 : 01:00)

Erratum  Voir?

(Source: Annals of Neurology)
(01/10/2015 : 01:00)

Missed Stroke in Acute Vertigo and Dizziness: It is Time for Action, not Debate  Voir?

(Source: Annals of Neurology)
(30/09/2015 : 16:39)

Does vagotomy reduce the risk of Parkinson's disease?  Voir?

(Source: Annals of Neurology)
(29/09/2015 : 01:00)

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/09/2015 : 01:00)

Simvastatin and Vitamin D for Migraine Prevention: A Randomized Controlled Trial  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/09/2015 : 01:00)

Reduced integration and differentiation of the imitation network in autism: A combined fcMRI and DWI study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/09/2015 : 01:00)

44th Annual Meeting of the Child Neurology Society  Voir?

(Source: Annals of Neurology)
(25/09/2015 : 01:00)

140th Annual Meeting American Neurological Association  Voir?

(Source: Annals of Neurology)
(25/09/2015 : 01:00)

Issue Information  Voir?

(Source: Annals of Neurology)
(25/09/2015 : 01:00)

Annals of Neurology: Volume 78, Number 4, October 2015  Voir?

ON THE COVER: Double immunofluorescence labeling of a control motor neuron for the short form of C9orf72 protein (green), TDP‐43 (red), and counterstained blue with DAPI to highlight nuclei. C9orf72 is localized to the nuclear membrane and TDP‐43 to the nucleus in healthy motor neurons, but this is lost in diseased motor neurons in ALS. For more information, see the article by Xiao et al. (pages 568–583). (Source: Annals of Neurology)

... / ... Lire la suite

(25/09/2015 : 01:00)

Validating novel tau positron emission tomography tracer [F‐18]‐AV‐1451 (T807) on postmortem brain tissue  Voir?

ObjectiveTo examine region‐ and substrate‐specific autoradiographic and in vitro binding patterns of positron emission tomography tracer [F‐18]‐AV‐1451 (previously known as T807), tailored to allow in vivo detection of paired helical filament‐tau–containing lesions, and to determine whether there is off‐target binding to other amyloid/non‐amyloid proteins. MethodsWe applied [F‐18]‐AV‐1451 phosphor screen autoradiography, [F‐18]‐AV‐1451 nuclear emulsion autoradiography, and [H‐3]‐AV‐1451 in vitro binding assays to the study of postmortem samples from patients with a definite pathological diagnosis of Alzheimer disease, frontotemporal lobar degeneration–tau, frontotemporal lobar degeneration–transactive response DNA binding protein 43 (TDP‐43), progr...

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(25/09/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(22/09/2015 : 01:00)

Protective effect of vagotomy suggests source organ for Parkinson disease  Voir?

(Source: Annals of Neurology)
(22/09/2015 : 01:00)

Protective effect of vagotomy suggests source organ for Parkinson's disease  Voir?

(Source: Annals of Neurology)
(22/09/2015 : 01:00)

Re: REST rs3796529 variant does not confer susceptibility to Alzheimer's disease  Voir?

(Source: Annals of Neurology)
(22/09/2015 : 01:00)

Challenges and opportunities of Endovascular Stroke Therapy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/09/2015 : 01:00)

Reply to Letter to Editor ANA‐15‐1051 ‘Is the MC1R variant p.R160W associated with Parkinson's?' by Lubbe SJ, Escott‐Price V, Brice A, et al.  Voir?

(Source: Annals of Neurology)
(21/09/2015 : 01:00)

Epilepsy in adults with mitochondrial disease: A cohort study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/09/2015 : 01:00)

MR neurography detects diabetic neuropathy early and with proximal predominance  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/09/2015 : 01:00)

Everolimus for subependymal giant cell astrocytoma: 5‐year final analysis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/09/2015 : 01:00)

Outcomes among patients discharged from the emergency department with a diagnosis of peripheral vertigo  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/09/2015 : 01:00)

TAR DNA‐binding protein 43 and pathological subtype of Alzheimer's disease impact clinical features  Voir?

ObjectiveThe aim of this study was to determine whether the frequency of TAR DNA‐binding protein 43 (TDP‐43) deposition in Alzheimer's disease (AD) differs across pathologically defined AD subtypes (hippocampal sparing [HpSp]; typical and limbic) and further examine the relationship between TDP‐43, pathological subtype, and clinical features in AD. MethodsWe identified all cases with pathologically confirmed AD (NIA‐Reagan intermediate‐high probability, Braak stage IV–VI) independent of cognitive status (n = 188). Neurofibrillary tangle counts were performed using thioflavin‐S microscopy in hippocampus and three neocortical regions, and all cases were subtyped: HpSp AD pathology (n = 19); typical AD pathology (n = 136); and limbic AD pathology (n = 33). TDP‐...

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(16/09/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(16/09/2015 : 01:00)

Hereditary spastic paraplegia‐linked REEP1 modulates endoplasmic reticulum/mitochondria contacts  Voir?

ObjectiveMutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs). Although axonal degeneration is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is largely unknown. Previous studies have implicated a role for REEP1 in the endoplasmic reticulum (ER), whereas others localized REEP1 with mitochondria. We sought to resolve the cellular localization of REEP1 and further elucidate the pathobiology underlying REEP1 mutations in patients. MethodsA combination of cellular imaging and biochemical approaches was used to refine the cellular localization of REEP1. Next, Reep1 mutations associated with HSP were functionally tested in neuritic growth and degeneration assays using mouse cortical culture...

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(16/09/2015 : 01:00)

Genotype‐phenotype correlation and course of TTR familial amyloid polyneuropathies in France  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/09/2015 : 01:00)

Quinidine in the treatment of KCNT1 positive epilepsies  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/09/2015 : 01:00)

To travel or not to travel: The modern day struggle of the academic researcher  Voir?

(Source: Annals of Neurology)
(07/09/2015 : 01:00)

Reduced CSF mitochondrial DNA is a biomarker for early‐stage Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(07/09/2015 : 01:00)

Elevated synchrony in Parkinson disease detected with electroencephalography  Voir?

ObjectiveParkinson disease (PD) can be difficult to diagnose and treat. Development of a biomarker for PD would reduce these challenges by providing an objective measure of disease. Emerging theories suggest PD is characterized by excessive synchronization in the beta frequency band (∼20Hz) throughout basal ganglia–thalamocortical loops. Recently we showed with invasive electrocorticography that one robust measure of this synchronization is the coupling of beta phase to broadband gamma amplitude (ie, phase–amplitude coupling [PAC]). Other recent work suggests that high‐frequency activity is detectable at the scalp using electroencephalography (EEG). Motivated by these findings, we tested whether beta‐gamma PAC over sensorimotor cortex, recorded noninvasively with EEG, differs bet...

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(02/09/2015 : 01:00)

How Low Can You Go?  Voir?

(Source: Annals of Neurology)
(01/09/2015 : 01:00)

Is the MC1R variant p.R160W associated with Parkinson's?  Voir?

(Source: Annals of Neurology)
(01/09/2015 : 01:00)

Predictors of preoperative and early postoperative seizures in patients with intra‐axial primary and metastatic brain tumors: A retrospective observational single center study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/09/2015 : 01:00)

Does vagotomy reduce the risk of Parkinson's disease – the authors reply  Voir?

(Source: Annals of Neurology)
(01/09/2015 : 01:00)

Validating novel tau PET tracer [F‐18]‐AV‐1451 (T807) on postmortem brain tissue  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/09/2015 : 01:00)

Visual evoked potentials detect cortical processing deficits in Rett syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/09/2015 : 01:00)

CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy  Voir?

(Source: Annals of Neurology)
(31/08/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(31/08/2015 : 01:00)

Electrocardiographic left atrial abnormality and stroke subtype in the atherosclerosis risk in communities study  Voir?

ObjectiveThe aim of this study was to assess the relationship between abnormally increased P‐wave terminal force in lead V1, an electrocardiographic (ECG) marker of left atrial abnormality, and incident ischemic stroke subtypes. We hypothesized that associations would be stronger with nonlacunar stroke, given that we expected left atrial abnormality to reflect the risk of thromboembolism rather than in situ cerebral small‐vessel occlusion. MethodsOur cohort comprised 14,542 participants 45 to 64 years of age prospectively enrolled in the Atherosclerosis Risk in Communities study and free of clinically apparent atrial fibrillation (AF) at baseline. Left atrial abnormality was defined as PTFV1 >4,000μV*ms. Outcomes were adjudicated ischemic stroke, nonlacunar (including cardioembolic...

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(31/08/2015 : 01:00)

Isoform‐specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis  Voir?

ObjectiveA noncoding hexanucleotide repeat expansion in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). It has been reported that the repeat expansion causes a downregulation of C9orf72 transcripts, suggesting that haploinsufficiency may contribute to disease pathogenesis. Two protein isoforms are generated from three alternatively spliced transcripts of C9orf72; a long form (C9‐L) and a short form (C9‐S), and their function(s) are largely unknown owing to lack of specific antibodies. MethodsTo investigate C9orf72 protein properties, we developed novel antibodies that recognize either C9‐L or C9‐S. Multiple techniques, including Western blot, immunohistochemistry, and coimmunoprecipitation, were used to determine...

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(29/08/2015 : 01:00)

Comparative genomic hybridization solves a 14‐year‐old PARKIN mystery  Voir?

(Source: Annals of Neurology)
(29/08/2015 : 01:00)

Pericytes are involved in the pathogenesis of CADASIL  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(28/08/2015 : 06:20)

Reply  Voir?

(Source: Annals of Neurology)
(25/08/2015 : 01:00)

Effect of REST on brain metabolism in the Alzheimer disease continuum  Voir?

(Source: Annals of Neurology)
(25/08/2015 : 01:00)

Post‐Mortem evaluation of amyloid‐dopamine terminal positron emission tomography dementia classifications  Voir?

We reported previously that molecular imaging classification of early dementia and MCI with dual amyloid and dopamine terminal positron emission tomography differs significantly from expert clinical classification. We now report pathological diagnoses in a substantial subset of our previously imaged subjects. Among 36 subjects coming to autopsy, imaging classifications and pathological diagnosis were concordant in 33 cases (κ = 0.85). This approach enhanced specificity of Alzheimer's disease diagnosis. The strong concordance of imaging‐based classifications and pathological diagnoses suggests that this imaging approach will be useful in establishing more accurate and convenient classification biomarkers for dementia research. Ann Neurol 2015 (Source: Annals of Neurology)

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(25/08/2015 : 01:00)

Copy number variations in multiple sclerosis and neuromyelitis optica  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(23/08/2015 : 04:04)

Reply  Voir?

(Source: Annals of Neurology)
(22/08/2015 : 01:00)

Reply to Guiyou Liu  Voir?

(Source: Annals of Neurology)
(22/08/2015 : 01:00)

Corticospinal tract lesion load ‐ A potential imaging biomarker for stroke motor outcomes  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/08/2015 : 23:53)

Annals of Neurology: Volume 78, Number 3, September 2015  Voir?

ON THE COVER: Blue staining representing expression of Fat1 on cross‐section at shoulder level of a mouse embryo at 14.5 days of development. The blue stain is due to a color reaction for β‐galactosidase due to the LacZ gene being inserted in the Fat1 locus, under the control of Fat1 regulatory elements. Different muscle groups located in the shoulder and forearm area are stained blue. Most of the muscles known to be affected at early stages of FacioScapuloHumeral Dystrophy (FSHD) in humans exhibit low levels of Fat1 expression in mice, supporting the correlation between low FAT1 expression levels and muscles affected early in FSHD. For more information, see the article by Mariot et al. (pages 387–400). (Source: Annals of Neurology)

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(21/08/2015 : 01:00)

The neuronal component of gray matter damage in multiple sclerosis: A [11C]flumazenil positron emission tomography study  Voir?

ObjectiveUsing positron emission tomography (PET) with [11C]flumazenil ([11C]FMZ), an antagonist of the central benzodiazepine site located within the GABAA receptor, we quantified and mapped neuronal damage in the gray matter (GM) of patients with multiple sclerosis (MS) at distinct disease stages. We investigated the relationship between neuronal damage and white matter (WM) lesions and evaluated the clinical relevance of this neuronal PET metric. MethodsA cohort of 18 MS patients (9 progressive and 9 relapsing‐remitting) was compared to healthy controls and underwent neurological and cognitive evaluations, high‐resolution dynamic [11C]FMZ PET imaging and brain magnetic resonance imaging. [11C]FMZ binding was estimated using the partial saturation protocol providing voxel‐wise abso...

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(21/08/2015 : 01:00)

Sleep deficits but no metabolic deficits in premanifest Huntington's disease  Voir?

ObjectiveHuntington disease (HD) is a fatal autosomal dominant, neurodegenerative condition characterized by progressively worsening motor and nonmotor problems including cognitive and neuropsychiatric disturbances, along with sleep abnormalities and weight loss. However, it is not known whether sleep disturbances and metabolic abnormalities underlying the weight loss are present at a premanifest stage. MethodsWe performed a comprehensive sleep and metabolic study in 38 premanifest gene carrier individuals and 36 age‐ and sex‐matched controls. The study consisted of 2 weeks of actigraphy at home, 2 nights of polysomnography and multiple sleep latency tests in the laboratory, and body composition assessment using dual energy x‐ray absorptiometry scanning with energy expenditure measur...

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(21/08/2015 : 01:00)

Cutting the Vagal Highway Blocks One Point of Entry for Prion‐Like Alpha‐ Synuclein  Voir?

(Source: Annals of Neurology)
(21/08/2015 : 01:00)

Recessive ITPA mutations cause an early infantile encephalopathy  Voir?

This study confirms that combining MRI pattern recognition to define small, homogeneous patient groups with WES is a powerful approach for providing a fast diagnosis in patients with an unclassified genetic encephalopathy. Ann Neurol 2015 (Source: Annals of Neurology)
(21/08/2015 : 01:00)

A destructive feedback loop mediated by CXCL10 in central nervous system inflammatory disease  Voir?

The objective of this study was to determine the effect of FK506 on CSF chemokine levels in PND patients. MethodsCSF samples before and after FK506 treatment were tested by multiplex assay for the presence of 27 cytokines. Follow‐up in vitro experiments aimed to determine whether T cells secrete CXCL10 in response to cognate antigen. ResultsHere we report that PND patients harbor high levels of the chemokine CXCL10 in their CSF. CXCL10 is a cytokine that recruits CXCR3+ cells such as activated T cells, and we found that FK506 treatment specifically decreased CSF CXCL10 from among 27 cytokines tested. In vitro, CXCL10 was only produced during antigen‐specific cognate interactions between T cells and antigen‐presenting cells (APCs) when interferon‐γ (IFNγ) receptors were present on...

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(21/08/2015 : 01:00)

How are different neural networks related to consciousness?  Voir?

ObjectiveWe aimed to investigate the roles of different resting‐state networks in predicting both the actual level of consciousness and its recovery in brain injury patients. MethodsWe investigated resting‐state functional connectivity within different networks in patients with varying levels of consciousness: unresponsive wakefulness syndrome (UWS; n = 56), minimally conscious state (MCS; n = 29), and patients with brain lesions but full consciousness (BL; n = 48). Considering the actual level of consciousness, we compared the strength of network connectivity among the patient groups. We then checked the presence of connections between specific regions in individual patients and calculated the frequency of this in the different patient groups. Considering the recovery of c...

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(20/08/2015 : 01:00)

Elevated synchrony in Parkinson's disease detected with electroencephalography  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/08/2015 : 01:00)

Tracking sensory system atrophy and outcome prediction in spinal cord injury  Voir?

This study has demonstrated progressive atrophic and microstructural changes across the sensory system with a close relation to sensory outcome. Structural MRI protocols remote from the site of lesion provide new insights into neuronal degeneration underpinning sensory disturbance and have the potential as responsive biomarkers of rehabilitation and treatment interventions. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(20/08/2015 : 01:00)

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix‐Saguenay  Voir?

This study aimed to identify new mutations in a large population of ataxic patients and to functionally analyze their cellular effects in the mitochondrial compartment. Methods: A total of 321 index patients with spastic ataxia selected from the SPATAX network were analyzed by direct sequencing of the SACS gene, and 156 patients from the ATAXIC project presenting with congenital ataxia were investigated either by targeted or whole‐exome sequencing. For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono‐ or biallelic variants, including one case harboring a large deletion encompassing the entire SACS gene. Results: We identified biallelic SACS variants in 33 patients from SPATAX, and in five nonprogressive ataxia patients from ATAXIC...

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(20/08/2015 : 01:00)

REST rs3796529 variant does not confer susceptibility to Alzheimer's disease  Voir?

(Source: Annals of Neurology)
(18/08/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(18/08/2015 : 01:00)

Familial cortical dysplasia caused by mutation in the mTOR regulator NPRL3  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/08/2015 : 01:00)

Protective effect of vagotomy suggests source organ for Parkinson's disease  Voir?

(Source: Annals of Neurology)
(12/08/2015 : 01:00)

Use of simulation in acute neurology training: Point and counterpoint  Voir?

Editor's Note: A major aim of the NeuroGenesis series is to provide a forum for discussing various stages in the career development of academic neurologists, including the training of our junior medical student and house officer colleagues. For certain topics, an evidence‐based review may be enlightening, whereas for others, words of wisdom from an experienced voice may be most useful. There are certain subjects, however, that engender a lively debate among those involved in neurology education, and the use of simulation to teach clinical neurology is one of them. What follows is a point–counterpoint exchange between Drs Hocker and Wijdicks and Drs Feske and Drislane regarding the advantages and pitfalls of neurology simulation. We hope that this stimulates a larger discussion among ne...

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(03/08/2015 : 01:00)

Genome‐wide variant by serum urate interaction in Parkinson's Disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/08/2015 : 01:00)

Re: Protective effect of vagotomy suggests source organ for Parkinson's disease  Voir?

(Source: Annals of Neurology)
(01/08/2015 : 01:00)

Diagnosing Balamuthia mandrillaris encephalitis with metagenomic deep sequencing  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/08/2015 : 01:00)

Clinical and pathological insights into the dynamic nature of the white matter multiple sclerosis plaque  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/08/2015 : 01:00)

Cutting the vagal highway blocks one point of entry for prion‐like alpha‐synuclein  Voir?

(Source: Annals of Neurology)
(31/07/2015 : 15:11)

Progressive neurologic dysfunction in a psoriasis patient treated with dimethyl fumarate  Voir?

We report a psoriasis patient who presented with progressive neurologic dysfunction and seizures after 2.5 years of fumarate therapy. Despite absolute lymphocyte counts remaining between 500‐1000/mm3, his CD4+ and CD8+ T‐cell counts were markedly low. MRI showed right hemispheric and brainstem lesions and JC virus DNA was undetectable in his cerebrospinal fluid. Brain biopsy revealed typical features of PML as well as JC virus‐infected neurons. Clinicians should consider PML in the differential diagnosis of fumarate‐treated patients presenting with brain lesions or seizures even in the absence of severe lymphocytopenia. ANN NEUROL 2015 (Source: Annals of Neurology)

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(31/07/2015 : 01:00)

Recanalization of Basilar Artery Occlusion: Authors reply  Voir?

(Source: Annals of Neurology)
(29/07/2015 : 18:40)

Recessive ITPA mutations cause an early‐infantile encephalopathy  Voir?

This study confirms that combining MRI pattern recognition to define small, homogeneous patient groups with WES is a powerful approach to provide a fast diagnosis in patients with an unclassified genetic encephalopathy. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(29/07/2015 : 01:00)

A destructive feedback loop mediated by CXCL10 in CNS inflammatory disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/07/2015 : 01:00)

Sleep, but no metabolic, deficits in pre‐manifest huntington's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/07/2015 : 01:00)

TDP‐43 and pathological subtype of Alzheimer's disease impact clinical features  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/07/2015 : 01:00)

Recanalization of basilar artery occlusion  Voir?

(Source: Annals of Neurology)
(28/07/2015 : 01:00)

Rare coding mutations identified by sequencing of Alzheimer disease genome‐wide association studies loci  Voir?

ObjectiveTo detect rare coding variants underlying loci detected by genome‐wide association studies (GWAS) of late onset Alzheimer disease (LOAD). MethodsWe conducted targeted sequencing of ABCA7, BIN1, CD2AP, CLU, CR1, EPHA1, MS4A4A/MS4A6A, and PICALM in 3 independent LOAD cohorts: 176 patients from 124 Caribbean Hispanics families, 120 patients and 33 unaffected individuals from the 129 National Institute on Aging LOAD Family Study; and 263 unrelated Canadian individuals of European ancestry (210 sporadic patients and 53 controls). Rare coding variants found in at least 2 data sets were genotyped in independent groups of ancestry‐matched controls. Additionally, the Exome Aggregation Consortium was used as a reference data set for population‐based allele frequencies. ResultsOverall ...

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(28/07/2015 : 01:00)

LMNB1‐Related Autosomal‐Dominant Leukodystrophy: Clinical and Radiological Course  Voir?

ObjectiveDuplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1‐related ADLD. MethodsTwenty‐three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years. ResultsPathological MRI findings were found in the brain and spinal ...

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(27/07/2015 : 01:00)

Hereditary Spastic Paraplegia‐Linked REEP1 Modulates ER‐Mitochondria Contacts  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/07/2015 : 11:00)

Annals of Neurology: Volume 78, Number 2, August 2015  Voir?

ON THE COVER: In vivo multiphoton microscopy image of dendrites within the somatosensory cortex of a familial hemiplegic migraine mutant mouse expressing the genetically encoded Ca2+‐indicator yellow cameleon YC3.6. Epidural application of KCl onto the occipital cortex triggered a cortical spreading depression wave that was associated with dendritic beading and a rapid surge in neuronal [Ca2+]i as indicated by change in pseudocolor (from basal nanoM levels marked in blue to microM levels marked in red; see also Video 7). Elevated neuronal [Ca2+]i and synaptic structural changes were apparent in migraine mutant mice and can explain cortical hyperexcitability. Field dimension: 126 μm × 126 μm. For more information, see the article by Eikermann‐Haerter et al. (pages 193–210). (Source...

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(23/07/2015 : 01:00)

The Affordable Care Act…or Is It?  Voir?

(Source: Annals of Neurology)
(23/07/2015 : 01:00)

American Neurological Association: Volume 78, Number 2, July 2015  Voir?

ON THE COVER: In vivo multiphoton microscopy image of dendrites within the somatosensory cortex of a familial hemiplegic migraine mutant mouse expressing the genetically encoded Ca2+‐indicator yellow cameleon YC3.6. Epidural application of KCl onto the occipital cortex triggered a cortical spreading depression wave that was associated with dendritic beading and a rapid surge in neuronal [Ca2+]i as indicated by change in pseudocolor (from basal nanoM levels marked in blue to microM levels marked in red; see also Video 7). Elevated neuronal [Ca2+]i and synaptic structural changes were apparent in migraine mutant mice and can explain cortical hyperexcitability. Field dimension: 126 μm × 126 μm. For more information, see the article by Eikermann‐Haerter et al. (pages 193–210). (Source...

... / ... Lire la suite

(23/07/2015 : 01:00)

Anosognosia in Alzheimer disease: Disconnection between memory and self‐related brain networks  Voir?

This study aims at improving our understanding of the neural mechanisms underlying anosognosia of memory deficits in AD by combining measures of regional brain metabolism (resting state fluorodeoxyglucose positron emission tomography [FDG‐PET]) and intrinsic connectivity (resting state functional magnetic resonance imaging [fMRI]). MethodsTwenty‐three patients diagnosed with probable AD based on clinical and biomarker data and 30 matched healthy control subjects were recruited in this study. An anosognosia index (difference between subjective and objective memory scores) was obtained in each participant. Resting state FDG‐PET for glucose metabolism measurement and resting state fMRI for intrinsic connectivity measurement were also performed. AD and control groups were compared on beh...

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(21/07/2015 : 01:00)

Age and amyloid effects on human central nervous system amyloid‐beta kinetics  Voir?

ObjectiveAge is the single greatest risk factor for Alzheimer's disease (AD), with the incidence doubling every 5 years after age 65. However, our understanding of the mechanistic relationship between increasing age and the risk for AD is currently limited. We therefore sought to determine the relationship between age, amyloidosis, and amyloid‐beta (Aβ) kinetics in the central nervous system (CNS) of humans. MethodsAβ kinetics were analyzed in 112 participants and compared to the ages of participants and the amount of amyloid deposition. ResultsWe found a highly significant correlation between increasing age and slowed Aβ turnover rates (2.5‐fold longer half‐life over five decades of age). In addition, we found independent effects on Aβ42 kinetics specifically in participants wit...

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(20/07/2015 : 01:00)

No association of TREM1 rs6910730 and TREM2 rs7759295 with Alzheimer disease  Voir?

(Source: Annals of Neurology)
(17/07/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(17/07/2015 : 01:00)

The Academic Neurohospitalist: Building a Successful Career and Practice  Voir?

(Source: Annals of Neurology)
(15/07/2015 : 01:00)

Post‐Mortem Evaluation of Amyloid‐Dopamine Terminal PET Dementia Classifications  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2015 : 01:00)

Electrocardiographic Left Atrial Abnormality and Stroke Subtype in ARIC  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(15/07/2015 : 01:00)

Reply to Letter  Voir?

(Source: Annals of Neurology)
(15/07/2015 : 01:00)

Effect of REST on brain metabolism in the Alzheimer's disease continuum  Voir?

(Source: Annals of Neurology)
(15/07/2015 : 01:00)

Association between incident cancer and subsequent stroke  Voir?

(Source: Annals of Neurology)
(14/07/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(14/07/2015 : 01:00)

Genomic hybridization solves a 14‐year old PARKIN mystery  Voir?

(Source: Annals of Neurology)
(14/07/2015 : 01:00)

The use of simulation in acute neurology training: Point and counterpoint  Voir?

(Source: Annals of Neurology)
(07/07/2015 : 01:00)

Proportional recovery after stroke depends on corticomotor integrity  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(07/07/2015 : 01:00)

Confusing Placebo Effect with Natural History in Epilepsy: A Big Data Approach  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(07/07/2015 : 01:00)

Progressive hemiparesis in a psoriasis patient treated with dimethyl fumarate  Voir?

(Source: Annals of Neurology)
(07/07/2015 : 01:00)

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy  Voir?

ObjectiveFacioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. Because we have recently shown that mice with disrupted Fat1 functions exhibit FSHD‐like phenotypes, we have investigated the expression of the human FAT1 gene in FSHD. MethodsWe first analyzed FAT1 expression in FSHD adult muscles and determined whether FAT1 expression was driven by DUX4. We next determined FAT1 expression levels in 64 muscles isolated from 16 control fetuses. These data were further complemented with analysis of Fat1 expression in devel...

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(03/07/2015 : 01:00)

Optical coherence tomography reflects brain atrophy in MS: A four year study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/07/2015 : 01:00)

Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/07/2015 : 01:00)

Isoform Specific Antibodies Reveal Distinct Subcellular Localizations of C9orf72 in Amyotrophic Lateral Sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/07/2015 : 01:00)

Time to Endovascular Reperfusion and Degree of Disability in Acute Stroke  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/07/2015 : 01:00)

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy  Voir?

Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome‐predicted CNVs by array‐based methods is still required due to false‐positive rates of prediction algorithms. Our exome‐based results are consistent with recent array‐based studies in similar cohorts and highlight novel candidate genes for IS and LGS. Ann Neurol 2015 (...

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(01/07/2015 : 01:00)

Disrupted vasculature and blood–brain barrier in Huntington disease  Voir?

(Source: Annals of Neurology)
(01/07/2015 : 01:00)

Clarithromycin in γ‐aminobutyric acid–Related hypersomnolence: A randomized, crossover trial  Voir?

ObjectiveSome central hypersomnolence syndromes are associated with a positive allosteric modulator of γ‐aminobutyric acid (GABA)‐A receptors in cerebrospinal fluid. Negative allosteric modulators of GABA‐A receptors, including clarithromycin, have been reported to reduce sleepiness in these patients. We sought to systematically assess the effects of clarithromycin on objective vigilance and subjective sleepiness. MethodsThis was a 5‐week, randomized, placebo‐controlled, double‐blind, crossover trial of clarithromycin 500mg with breakfast and lunch, in patients with hypersomnolence syndromes (excluding narcolepsy with cataplexy) and evidence for abnormal cerebrospinal fluid potentiation of GABA‐A receptors. The study occurred at a university‐affiliated medical center. The ...

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(30/06/2015 : 01:00)

Innate Immunity to Campylobacter jejuni in Guillain‐Barré Syndrome  Voir?

(30/06/2015 : 01:00)

Significance of Very‐High‐Frequency Oscillations (Over 1,000Hz) in Epilepsy  Voir?

This study included 13 patients with neocortical epilepsy who underwent subdural electrode implantation and had at least 1 seizure recorded at a 10‐kHz sampling rate and were followed for more than 2 years postoperatively. Extent of resection was determined considering the seizure onset zone (SOZ) and irritative zone, structural lesion, and functional areas. Areas showing VHFO and those with HFO were not taken into consideration. The presence or absence of VHFO (>1,000Hz), HFO (200–1,000Hz) and SOZ, and completeness of resection of these areas were compared with postoperative seizure outcome. ResultsSeven patients had favorable (Engel class Ia) and 6 had unfavorable outcomes (other classes). VHFO was recorded in 6 of 7 patients with a favorable outcome. On the contrary, VHFO was rec...

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(30/06/2015 : 01:00)

Intraneural GJB1 gene delivery improves nerve pathology in a model of X‐linked Charcot–Marie–Tooth disease  Voir?

ObjectiveX‐linked Charcot–Marie–Tooth disease (CMT1X) is a common inherited neuropathy caused by mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32). Clinical studies and disease models indicate that neuropathy mainly results from Schwann cell autonomous, loss‐of‐function mechanisms; therefore, CMT1X may be treatable by gene replacement. MethodsA lentiviral vector LV.Mpz‐GJB1 carrying the GJB1 gene under the Schwann cell–specific myelin protein zero (Mpz) promoter was generated and delivered into the mouse sciatic nerve by a single injection immediately distal to the sciatic notch. Enhanced green fluorescent protein (EGFP) reporter gene expression was quantified and Cx32 expression was examined on a Cx32 knockout (KO) background. A gene therapy tria...

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(30/06/2015 : 01:00)

Detection of TDP‐43 oligomers in frontotemporal lobar degeneration–TDP  Voir?

ObjectiveThe proteinaceous inclusions in TDP‐43 proteinopathies such as frontotemporal lobar degeneration (FTLD)‐TDP are made of high–molecular‐weight aggregates of TDP‐43. These aggregates have not been classified as amyloids, as prior amyloid staining results were not conclusive. Here we used a specific TDP‐43 amyloid oligomer antibody called TDP‐O to determine the presence and abundance of TDP‐43 oligomers among different subtypes of FTLD‐TDP as well as in hippocampal sclerosis (HS), which represents a non‐FTLD pathology with TDP‐43 inclusions. MethodsPostmortem tissue from the hippocampus and anterior orbital gyrus from 54 prospectively assessed and diagnosed subjects was used for immunostaining with TDP‐O. Electron microscopy was used to assess the subcellular ...

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(30/06/2015 : 01:00)

Aberrant astrocytes impair vascular reactivity in Huntington disease  Voir?

ObjectiveHuntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular function is altered in HD and characterizes the underlying mechanism. MethodsThe brain vessel density and vascular reactivity (VR) to carbogen challenge of HD mice were monitored by 3D ΔR2‐mMRA and blood oxygenation level–dependent (BOLD)/flow‐sensitive alternating inversion recovery (FAIR) magnetic resonance imaging (MRI), respectively. The amount of vascular endothelial growth factor (VEGF)‐A and the pericyte coverage were determined by immunohistochemistry and enzyme‐li...

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(30/06/2015 : 01:00)

Rare coding mutations identified by sequencing of Alzheimer's disease GWAS loci  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(24/06/2015 : 10:40)

Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery  Voir?

ObjectiveAntiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long‐term seizure outcomes. We now aimed to evaluate the effect of AED withdrawal on postoperative intelligence quotient (IQ), and change in IQ (delta IQ) following pediatric epilepsy surgery. MethodsWe collected IQ scores of children from the TTS cohort with both pre‐ and postoperative neuropsychological assessments (NPAs; n = 301) and analyzed whether reduction of AEDs prior to the latest NPA was related to postoperative IQ and delta IQ, using linear regression analyses. Factors previously identified as independently relating to (delta) IQ, and curren...

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(23/06/2015 : 01:00)

CHCHD10 mutations are not a common cause of SMN1‐negative type III‐IV spinal motor atrophy  Voir?

(Source: Annals of Neurology)
(20/06/2015 : 01:00)

Suprachiasmatic neuron numbers and rest–activity circadian rhythms in older humans  Voir?

We report that the circadian rhythm amplitude of motor activity in both AD subjects and age‐matched controls is correlated with the number of vasoactive intestinal peptide–expressing SCN neurons. AD was additionally associated with delayed circadian phase compared to cognitively healthy subjects, suggesting distinct pathologies and strategies for treating aging‐ and AD‐related circadian disturbances. Ann Neurol 2015 (Source: Annals of Neurology)

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(18/06/2015 : 01:00)

Periventricular lesions correlate with cortical thinning in multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(18/06/2015 : 01:00)

Gene delivery of neurturin to putamen and substantia nigra in Parkinson disease: A double‐blind, randomized, controlled trial  Voir?

ObjectiveA 12‐month double‐blind sham‐surgery–controlled trial assessing adeno‐associated virus type 2 (AAV2)‐neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several secondary endpoints. Analysis of postmortem tissue suggested impaired axonal transport of neurturin from putamen to substantia nigra. In the present study, we tested the safety and efficacy of AAV2‐neurturin delivered to putamen and substantia nigra. MethodsWe performed a 15‐ to 24‐month, multicenter, double‐blind trial in patients with advanced Parkinson disease (PD) who were randomly assigned to receive bilateral AAV2‐neurturin injected bilaterally into the...

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(10/06/2015 : 01:00)

Reply to Letter  Voir?

(Source: Annals of Neurology)
(09/06/2015 : 01:00)

Age and amyloid effects on human CNS amyloid‐beta kinetics  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(04/06/2015 : 01:00)

Reply to Godelieve Morel et al  Voir?

(Source: Annals of Neurology)
(01/06/2015 : 01:00)

Modulation of Creutzfeldt‐Jakob disease prion propagation by the A224V mutation  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

Anosognosia in Alzheimer disease: Disconnection between memory and self networks  Voir?

This study aims at improving our understanding of the neural mechanisms underlying anosognosia of memory deficits in AD by combining measures of regional brain metabolism (resting‐state FDG‐PET) and intrinsic connectivity (resting‐state fMRI). Methods. Twenty‐three patients diagnosed with probable AD based on clinical and biomarker data, and thirty matched healthy control subjects were recruited in this study. An anosognosia index (difference between subjective and objective memory scores) was obtained in each participant. Resting‐state FDG‐PET for glucose metabolism measurement and resting‐state fMRI for intrinsic connectivity measurement were also performed. AD and control groups were compared on behavioral data, and voxel‐wise correlations between anosognosia and neuroim...

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(01/06/2015 : 01:00)

Biology of sleep and circadian rhythms in the neurology resident  Voir?

(Source: Annals of Neurology)
(01/06/2015 : 01:00)

Ambient Air Pollution and Neurotoxicity on Brain Structure: Evidence from Women's Health Initiative Memory Study  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

Clarithromycin in GABA‐related Hypersomnolence: A Randomized, Crossover Trial  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

CNV analysis from exome data in 349 patients with epileptic encephalopathy  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

No association of TREM1 rs6910730 and TREM2 rs7759295 with Alzheimer's disease  Voir?

(Source: Annals of Neurology)
(01/06/2015 : 01:00)

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

LMNB1‐related autosomal dominant leukodystrophy: Clinical and radiological course  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(01/06/2015 : 01:00)

Congenital insensitivity to pain with anhidrosis  Voir?

(Source: Annals of Neurology)
(01/06/2015 : 01:00)

Olfactory identification deficits and increased mortality in the community  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/06/2015 : 01:00)

Abnormal synaptic Ca2+ homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/05/2015 : 13:58)

Correlation between low FAT1 expression and early affected muscle in FSHD  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/05/2015 : 10:59)

Vagotomy and subsequent risk of Parkinson's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/05/2015 : 01:00)

Disrupted vasculature and blood brain barrier in Huntington's disease  Voir?

(Source: Annals of Neurology)
(27/05/2015 : 01:00)

Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/05/2015 : 01:00)

CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas  Voir?

Conclusion. CIC mutations result in protein inactivation with up‐regulation of CIC target genes, activation of proliferative pathways, inhibition of differentiation, and poorer outcome in patients with a 1p19q codeleted gliomas. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(27/05/2015 : 01:00)

Innate immunity to Campylobacter jejuni in the Guillain‐Barré syndrome  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(27/05/2015 : 01:00)

APOEε2 is associated with milder clinical and pathological Alzheimer disease  Voir?

ObjectiveThe Alzheimer disease (AD) APOEε4 risk allele associates with an earlier age at onset and increased amyloid‐β deposition, whereas the protective APOEε2 allele delays the onset and appears to prevent amyloid‐β deposition. Yet the clinical and pathological effects of APOEε2 remain uncertain because of its relative rarity. We investigated the effects of APOEε2 and ε4 alleles on AD pathology and cognition in a large US data set of well‐characterized AD patients. MethodsWe studied individuals from the National Alzheimer's Coordinating Center autopsy cohort across the entire clinicopathological continuum of AD. Multivariate models were built to examine the associations between APOE alleles and AD neuropathological changes, using the APOEε3/ε3 group as comparator. Mediatio...

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(27/05/2015 : 01:00)

What is quality in medical care?  Voir?

(Source: Annals of Neurology)
(27/05/2015 : 01:00)

Reply  Voir?

(Source: Annals of Neurology)
(25/05/2015 : 01:00)

REST and Alzheimer disease  Voir?

(Source: Annals of Neurology)
(25/05/2015 : 01:00)

Nonsynonymous variants in MC1r are rare in Chinese Parkinson disease cases  Voir?

(Source: Annals of Neurology)
(25/05/2015 : 01:00)

Reply to ‘Nonsynonymous variants in MC1r are rare in Chinese Parkinson's disease cases’ by foo JN, zhao y, liu j, tan EKAnn neurol 2015 apr 20. doi: 10.1002/ana.24419. [epub ahead of print]  Voir?

(Source: Annals of Neurology)
(25/05/2015 : 01:00)

International engagement by United States academic neurology departments: A national survey  Voir?

(Source: Annals of Neurology)
(25/05/2015 : 01:00)

Alzheimer's disease pathology is attenuated in a CD38‐deficient mouse model  Voir?

ObjectiveAlzheimer's disease (AD)‐associated dementia is due to tissue damage caused by amyloid β (Aβ) deposition within the brain and by accompanying neuroinflammation. The nicotinamide adenine dinucleotide (NAD) glycohydrolase CD38, which is expressed by neurons, astrocytes, and microglial cells, regulates inflammatory and repair processes in the brain and other tissues by degrading NAD and repressing the activity of other NAD‐consuming enzymes and by producing NAD‐derived metabolites that regulate calcium signaling and migration of inflammatory cells. Given the role of CD38 in neuroinflammation and repair, we examined the effect of CD38 deletion on AD pathology. MethodsWe crossed APPswePS1ΔE9 (APP.PS) mice with Cd38−/− mice to generate AD‐prone CD38‐deficient animals (A...

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(25/05/2015 : 01:00)

Melanoma cell adhesion molecule–positive CD8 T lymphocytes mediate central nervous system inflammation  Voir?

ObjectiveAlthough Tc17 lymphocytes are enriched in the central nervous system (CNS) of multiple sclerosis (MS) subjects and of experimental autoimmune encephalomyelitis (EAE) animals, limited information is available about their recruitment into the CNS and their role in neuroinflammation. Identification of adhesion molecules used by autoaggressive CD8+ T lymphocytes to enter the CNS would allow further characterization of this pathogenic subset and could provide new therapeutic targets in MS. We propose that melanoma cell adhesion molecule (MCAM) is a surface marker and adhesion molecule used by pathogenic CD8+ T lymphocytes to access the CNS. MethodsFrequency, phenotype, and function of MCAM+CD8+ T lymphocytes was characterized using a combination of ex vivo, in vitro, in situ, and in vi...

... / ... Lire la suite

(20/05/2015 : 01:00)

Word and Text Processing in Acquired Prosopagnosia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(14/05/2015 : 01:00)

Significance of very high frequency oscillations (over 1,000 Hz) in epilepsy  Voir?

This study included thirteen patients with neocortical epilepsy who underwent subdural electrodes implantation and had at least one seizure recorded at 10‐kHz sampling rate, and were followed for more than two years postoperatively. The extent of resection was determined considering the seizure onset zone (SOZ) and irritative zone, structural lesion, and functional areas. The areas showing VHFO and those with HFO were not taken into consideration. The presence or absence of VHFO (>1,000 Hz), HFO (200‐1,000 Hz) and SOZ, and completeness of resection of these areas were compared with postoperative seizure outcome. Results: Seven patients had favorable (Engel class I‐a) and six had unfavorable outcomes (other classes). VHFO was recorded in six of seven patients with a favorable outco...

... / ... Lire la suite

(14/05/2015 : 01:00)

Sudomotor Innervation in Transthyretin Amyloid Neuropathy: Pathology and Functional Correlates  Voir?

This study aimed to investigate the pathology and clinical significance of sudomotor denervation. Methods: Skin biopsies were performed on the distal leg of FAP patients with a follow‐up duration of 3.8 ± 1.6 years. Sudomotor innervation was stained with 2 markers: protein gene product 9.5 (PGP 9.5), a general neuronal marker, and vasoactive intestinal peptide (VIP), a sudomotor nerve functional marker, followed by quantitation according to sweat gland innervation index (SGII) for PGP 9.5 (SGIIPGP 9.5) and VIP (SGIIVIP). Results: There were 28 patients (25 men) with Ala97Ser transthyretin and late‐onset (59.9 ± 6.0 years) disabling neuropathy. Autonomic symptoms were present in 22 patients (78.6%) at the time of skin biopsy. The SGIIPGP 9.5 and SGIIVIP of FAP patients were si...

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(14/05/2015 : 01:00)

Corrigendum: Enhanced creative thinking under dopaminergic therapy in Parkinson disease  Voir?

(Source: Annals of Neurology)
(11/05/2015 : 01:00)

Complement C1q‐C3–associated synaptic changes in multiple sclerosis hippocampus  Voir?

ObjectiveMultiple sclerosis (MS) is a demyelinating disease of the central nervous system, leading to memory impairment in up to 65% of patients. Memory dysfunction in MS has been associated with loss of synapses in the hippocampus, but its molecular basis is unknown. Accumulating evidence suggests that components of the complement system, C1q and C3, can mediate elimination of synapses. MethodsTo investigate the involvement of complement in synaptic changes in MS, gene and protein expression and localization of C1q and C3 were analyzed in relation to neuropathological changes in myelinated and demyelinated hippocampi from postmortem MS brains. Findings were compared to hippocampi of Alzheimer disease (AD) and non‐neurological controls. ResultsC1q expression and C3 activation were increa...

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(11/05/2015 : 01:00)

Ketone bodies mediate antiseizure effects through mitochondrial permeability transition  Voir?

ObjectiveKetone bodies (KB) are products of fatty acid oxidation and serve as essential fuels during fasting or treatment with the high‐fat antiseizure ketogenic diet (KD). Despite growing evidence that KB exert broad neuroprotective effects, their role in seizure control has not been firmly demonstrated. The major goal of this study was to demonstrate the direct antiseizure effects of KB and to identify an underlying target mechanism. MethodsWe studied the effects of both the KD and KB in spontaneously epileptic Kcna1‐null mice using a combination of behavioral, planar multielectrode, and standard cellular electrophysiological techniques. Thresholds for mitochondrial permeability transition (mPT) were determined in acutely isolated brain mitochondria. ResultsKB alone were sufficient t...

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(06/05/2015 : 01:00)

Electrical stimulation enhances sensory recovery: A randomized controlled trial  Voir?

ObjectiveBrief postsurgical electrical stimulation (ES) has been shown to enhance peripheral nerve regeneration in animal models following axotomy and crush injury. However, whether this treatment is beneficial in humans with sensory nerve injury has not been tested. The goal of this study was to test the hypothesis that ES would enhance sensory nerve regeneration following digital nerve transection compared to surgery alone. MethodsPatients with complete digital nerve transection underwent epineurial nerve repair. After coaptation of the severed nerve ends, fine wire electrodes were implanted before skin closure. Postoperatively, patients were randomized to receiving either 1 hour of 20Hz continuous ES or sham stimulation in a double‐blinded manner. Patients were followed monthly for 6 ...

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(04/05/2015 : 01:00)

Thalamic and extrathalamic mechanisms of consciousness after severe brain injury  Voir?

ObjectiveWhat mechanisms underlie the loss and recovery of consciousness after severe brain injury? We sought to establish, in the largest cohort of patients with disorders of consciousness (DOC) to date, the link between gold standard clinical measures of awareness and wakefulness, and specific patterns of local brain pathology—thereby possibly providing a mechanistic framework for patient diagnosis, prognosis, and treatment development. MethodsStructural T1‐weighted magnetic resonance images were collected, in a continuous sample of 143 severely brain‐injured patients with DOC (and 96 volunteers), across 2 tertiary expert centers. Brain atrophy in subcortical regions (bilateral thalamus, basal ganglia, hippocampus, basal forebrain, and brainstem) was assessed across (1) healthy vol...

... / ... Lire la suite

(04/05/2015 : 01:00)

Intraneural GJB1 gene delivery improves nerve pathology in a model of CMT1X  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2015 : 01:00)

Effect of pioglitazone medication on the incidence of dementia  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2015 : 01:00)

Fighting sleep at night: Brain correlates and vulnerability to sleep loss  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/05/2015 : 01:00)

Correcting neuromuscular deficits with gene therapy in Pompe disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(30/04/2015 : 08:35)

Suprachiasmatic neuron numbers and rest‐activity circadian rhythms in older humans  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2015 : 11:43)

Detection of TDP‐43 oligomers in frontotemporal lobar degeneration‐TDP  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(29/04/2015 : 01:00)

A pharmacogenetic study implicates SLC9A9 in multiple sclerosis disease activity  Voir?

This study identifies and validates the role of rs9828519, an intronic variant in SLC9A9, in IFNβ‐treated subjects, demonstrating a successful pharmacogenetic screen in MS. Functional characterization suggests that SLC9A9, an Na+‐H+ exchanger found in endosomes, appears to influence the differentiation of T cells to a pro‐inflammatory fate and may have a broader role in MS disease activity, outside of IFNβ‐treatment. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

... / ... Lire la suite

(25/04/2015 : 18:16)

Aberrant astrocytes impair vascular reactivity in huntington's disease  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/04/2015 : 01:00)

Reply to Letter  Voir?

(Source: Annals of Neurology)
(25/04/2015 : 01:00)

Corrigendum  Voir?

(Source: Annals of Neurology)
(25/04/2015 : 01:00)

Voxel‐based morphometric magnetic resonance imaging (MRI) postprocessing in MRI‐negative epilepsies  Voir?

ObjectiveIn the presurgical workup of magnetic resonance imaging (MRI)‐negative (MRI− or “nonlesional”) pharmacoresistant focal epilepsy (PFE) patients, discovering a previously undetected lesion can drastically change the evaluation and likely improve surgical outcome. Our study utilizes a voxel‐based MRI postprocessing technique, implemented in a morphometric analysis program (MAP), to facilitate detection of subtle abnormalities in a consecutive cohort of MRI− surgical candidates. MethodsIncluded in this retrospective study was a consecutive cohort of 150 MRI− surgical patients. MAP was performed on T1‐weighted MRI, with comparison to a scanner‐specific normal database. Review and analysis of MAP were performed blinded to patients' clinical information. The pertinence ...

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(23/04/2015 : 01:00)

IQ improves after antiepileptic drug withdrawal following pediatric epilepsy surgery  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(22/04/2015 : 01:58)

Prediction model for 3‐year rupture risk of unruptured cerebral aneurysms in Japanese patients  Voir?

ObjectiveTo build a prediction model that estimates the 3‐year rupture risk of unruptured saccular cerebral aneurysms. MethodsSurvival analysis was done using each aneurysm as the unit for analysis. Derivation data were from the Unruptured Cerebral Aneurysm Study (UCAS) in Japan. It consists of patients with unruptured cerebral aneurysms enrolled between 2000 and 2004 at neurosurgical departments at tertiary care hospitals in Japan. The model was presented as a scoring system, and aneurysms were classified into 4 risk grades by predicted 3‐year rupture risk: I, < 1%; II, 1 to 3%; III, 3 to 9%, and IV, >9%. The discrimination property and calibration plot of the model were evaluated with external validation data. They were a combination of 3 Japanese cohort studies: UCAS II, t...

... / ... Lire la suite

(22/04/2015 : 01:00)

Corrigendum: Targeting miR‐155 restores abnormal microglia and attenuates disease in SOD1 mice  Voir?

(Source: Annals of Neurology)
(22/04/2015 : 01:00)

Hippocampal sclerosis and TDP‐43 pathology in aging and Alzheimer disease  Voir?

ObjectiveTo investigate the association of hippocampal sclerosis (HS) with TAR‐DNA binding protein of 43kDa (TDP‐43) and other common age‐related pathologies, dementia, probable Alzheimer disease (AD), mild cognitive impairment (MCI), and cognitive domains in community‐dwelling older subjects. MethodsDiagnoses of dementia, probable AD, and MCI in 636 autopsied subjects from the Religious Order Study and the Rush Memory and Aging Project were based on clinical evaluation and cognitive performance tests. HS was defined as severe neuronal loss and gliosis in the hippocampal CA1 and/or subiculum. The severity and distribution of TDP‐43 were assessed, and other age‐related pathologies were also documented. ResultsHS was more common in those aged >90 years (18.0%) compared to youn...

... / ... Lire la suite

(22/04/2015 : 01:00)

α‐Synuclein pathology accumulates in sacral spinal visceral sensory pathways  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(21/04/2015 : 04:39)

Nonsynonymous variants in MC1R are rare in Chinese Parkinson's disease cases  Voir?

(Source: Annals of Neurology)
(20/04/2015 : 01:00)

Reply to Letter to the Editor  Voir?

(Source: Annals of Neurology)
(20/04/2015 : 01:00)

Idarucizumab improves outcome in murine brain hemorrhage related to dabigatran  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/04/2015 : 01:00)

Thalamic and extrathalamic mechanisms of (un)consciousness after severe brain injury  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/04/2015 : 01:00)

Ketone Bodies Mediate Anti‐Seizure Effects Through Mitochondrial Permeability Transition  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/04/2015 : 01:00)

Failure to Detect Human Papillomavirus in Focal Cortical Dysplasia Type IIb  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/04/2015 : 01:00)

Alzheimer's disease pathology is attenuated in a CD38 deficient mouse model  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(20/04/2015 : 01:00)

REST and Alzheimer's Disease  Voir?

(Source: Annals of Neurology)
(20/04/2015 : 01:00)

Cerebrospinal fluid markers reveal intrathecal inflammation in progressive multiple sclerosis  Voir?

ObjectiveThe management of complex patients with neuroimmunological diseases is hindered by an inability to reliably measure intrathecal inflammation. Currently implemented laboratory tests developed >40 years ago either are not dynamic or fail to capture low levels of central nervous system (CNS) inflammation. Therefore, we aimed to identify and validate biomarkers of CNS inflammation in 2 blinded, prospectively acquired cohorts of untreated patients with neuroimmunological diseases and embedded controls, with the ultimate goal of developing clinically useful tools. MethodsBecause biomarkers with maximum utility reflect immune phenotypes, we included an assessment of cell specificity in purified primary immune cells. Biomarkers were quantified by optimized electrochemiluminescent immun...

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(16/04/2015 : 01:00)

Predicting and treating stress‐induced vulnerability to epilepsy and depression  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(13/04/2015 : 01:00)

Reply to Letter  Voir?

(Source: Annals of Neurology)
(09/04/2015 : 01:00)

The entourage effect of the phytocannabinoids  Voir?

(Source: Annals of Neurology)
(09/04/2015 : 01:00)

Cerebrovascular and blood–brain barrier impairments in Huntington's disease: Potential implications for its pathophysiology  Voir?

ObjectiveAlthough the underlying cause of Huntington's disease (HD) is well established, the actual pathophysiological processes involved remain to be fully elucidated. In other proteinopathies such as Alzheimer's and Parkinson's diseases, there is evidence for impairments of the cerebral vasculature as well as the blood–brain barrier (BBB), which have been suggested to contribute to their pathophysiology. We investigated whether similar changes are also present in HD. MethodsWe used 3‐ and 7‐Tesla magnetic resonance imaging as well as postmortem tissue analyses to assess blood vessel impairments in HD patients. Our findings were further investigated in the R6/2 mouse model using in situ cerebral perfusion, histological analysis, Western blotting, as well as transmission and scanning...

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(09/04/2015 : 01:00)

Erratum  Voir?

(Source: Annals of Neurology)
(01/04/2015 : 01:00)

MCAM+ CD8 T lymphocytes mediate CNS inflammation  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2015 : 01:00)

The Puzzle of Orthostatic Tolerance in Hereditary Sensory and Autonomic Neuropathy, Type IV  Voir?

(Source: Annals of Neurology)
(01/04/2015 : 01:00)

Reversal strategies for vitamin K antagonists in acute intracerebral hemorrhage  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(01/04/2015 : 01:00)

Traumatic brain injury in later life increases risk for Parkinson disease  Voir?

ObjectiveTraumatic brain injury (TBI) is thought to be a risk factor for Parkinson disease (PD), but results are conflicting. Many studies do not account for confounding or reverse causation. We sought to address these concerns by quantifying risk of PD after TBI compared to non‐TBI trauma (NTT; defined as fractures). MethodsUsing inpatient/emergency department (ED) International Classification of Disease, Ninth Revision code data for California hospitals from 2005–2006, we identified patients aged ≥55 years with TBI (n = 52,393) or NTT (n = 113,406) and without baseline PD or dementia who survived hospitalization. Using Kaplan–Meier estimates and Cox proportional hazards models (adjusted for age, sex, race/ethnicity, income, comorbidities, health care use, and trauma sever...

... / ... Lire la suite

(28/03/2015 : 00:00)

Training for a neurology career in a rare disease: The role of cyberconsults  Voir?

(Source: Annals of Neurology)
(28/03/2015 : 00:00)

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease  Voir?

ObjectiveThe prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (mtDNA) rearrangements and point mutations. The revolution in genetic technologies has allowed interrogation of the nuclear genome in a manner that has dramatically improved the diagnosis of mitochondrial disorders. We comprehensively assessed the prevalence of all forms of adult mitochondrial disease to include pathogenic mutations in both nuclear and mtDNA. MethodsAdults with suspected mitochondrial disease in the North East of England were referred to a single neurology cent...

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(28/03/2015 : 00:00)

B‐cell very late antigen‐4 deficiency reduces leukocyte recruitment and susceptibility to central nervous system autoimmunity  Voir?

Natalizumab, which binds very late antigen‐4 (VLA‐4), is a potent therapy for multiple sclerosis (MS). Studies have focused primarily upon its capacity to interfere with T‐cell migration into the central nervous system (CNS). B cells are important in MS pathogenesis and express high levels of VLA‐4. Here, we report that the selective inhibition of VLA‐4 expression on B cells impedes CNS accumulation of B cells, and recruitment of Th17 cells and macrophages, and reduces susceptibility to experimental autoimmune encephalomyelitis. These results underscore the importance of B‐cell VLA‐4 expression in the pathogenesis of CNS autoimmunity and provide insight regarding mechanisms that may contribute to the benefit of natalizumab in MS, as well as candidate therapeutics that selecti...

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(28/03/2015 : 00:00)

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes  Voir?

ObjectiveTo test whether mutations in γ‐aminobutyric acid type A receptor (GABAA‐R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE). MethodsWe performed exome sequencing to compare the frequency of variants in 18 GABAA‐R genes in 204 European patients with RE/ARE versus 728 platform‐matched controls. Identified GABRG2 variants were functionally assessed for protein stability, trafficking, postsynaptic clustering, and receptor function. ResultsOf 18 screened GABAA‐R genes, we detected an enrichment of rare variants in the GABRG2 gene in RE/ARE patients (5 of 204, 2.45%) in comparison to controls (1 of 723, 0.14%; odds ratio = 18.07, 95% confidence interval = 2.01–855.07, p = 0.0024, pcorr = 0.043). We identified ...

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(28/03/2015 : 00:00)

Advancing Ethical Neuroscience  Voir?

(Source: Annals of Neurology)
(27/03/2015 : 12:54)

Heart rate variability and the risk of Parkinson disease: The Atherosclerosis Risk in Communities study  Voir?

ObjectiveAutonomic dysfunction frequently occurs in the context of Parkinson disease (PD) and may precede onset of motor symptoms. Limited data exist on the prospective association of heart rate variability (HRV), a marker of autonomic function, with PD risk. MethodsWe included 12,162 participants of the Atherosclerosis Risk in Communities study, a community‐based cohort, without a diagnosis of PD at baseline (1987–1989) and with available HRV data (mean age = 54 years, 57% women). A 2‐minute electrocardiogram was used to measure HRV. Incident PD was identified through 2008 from multiple sources, and adjudicated. Multivariable Cox models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) of PD by quartiles of HRV measurements. ResultsDuring a mean follow...

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(27/03/2015 : 00:00)

Dual κ‐agonist/μ‐antagonist opioid receptor modulation reduces levodopa‐induced dyskinesia and corrects dysregulated striatal changes in the nonhuman primate model of Parkinson disease  Voir?

ObjectiveEffective medical management of levodopa‐induced dyskinesia (LID) remains an unmet need for patients with Parkinson disease (PD). Changes in opioid transmission in the basal ganglia associated with LID suggest a therapeutic opportunity. Here we determined the impact of modulating both mu and kappa opioid receptor signaling using the mixed agonist/antagonist analgesic nalbuphine in reducing LID and its molecular markers in the nonhuman primate model. Methods1‐Methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine–treated macaques with advanced parkinsonism and reproducible LID received a range of nalbuphine doses or saline subcutaneously as: (1) monotherapy, (2) acute coadministration with levodopa, and (3) chronic coadministration for 1 month. Animals were assessed by blinded ex...

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(27/03/2015 : 00:00)

Brain–computer interface boosts motor imagery practice during stroke recovery  Voir?

ObjectiveMotor imagery (MI) is assumed to enhance poststroke motor recovery, yet its benefits are debatable. Brain–computer interfaces (BCIs) can provide instantaneous and quantitative measure of cerebral functions modulated by MI. The efficacy of BCI‐monitored MI practice as add‐on intervention to usual rehabilitation care was evaluated in a randomized controlled pilot study in subacute stroke patients. MethodsTwenty‐eight hospitalized subacute stroke patients with severe motor deficits were randomized into 2 intervention groups: 1‐month BCI‐supported MI training (BCI group, n = 14) and 1‐month MI training without BCI support (control group; n = 14). Functional and neurophysiological assessments were performed before and after the interventions, including evaluation ...

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(27/03/2015 : 00:00)

Syndromic parkinsonism and dementia associated with OPA1 missense mutations  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/03/2015 : 00:00)

Oligoclonal bands predict multiple sclerosis in children with optic neuritis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(26/03/2015 : 00:00)

CSF markers reveal intrathecal inflammation in progressive multiple sclerosis  Voir?

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
(25/03/2015 : 17:06)

Differential effects of deep brain stimulation target on motor subtypes in Parkinson's disease  Voir?

ObjectiveThe Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benefits. We conducted an additional analysis of this data set to evaluate whether PD motor subtypes responded differently to the 2 stimulation targets. MethodsWe classified 235 subjects by motor subtype: tremor dominant (TD), intermediate (I), or postural instability gait difficulty (PIGD), based on pre‐DBS baseline Unified Parkinson's Disease Rating Scale (UPDRS) scores off‐medication. The primary outcome was change in UPDRS part III (UPDRS‐III) off‐medication scores from...

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(25/03/2015 : 00:00)

Voxel‐based morphometric MRI post‐processing in MRI‐negative epilepsies  Voir?

Conclusions: MAP can be a practical and valuable tool to: (1) guide the search for subtle MRI abnormalities, and (2) confirm visually identified questionable abnormalities in patients with PFE due to suspected FCD. A MAP+ region, when concordant with the patient's electro‐clinical presentation, should provide a legitimate target for surgical exploration. This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

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(25/03/2015 : 00:00)

Risk factors for neurodegeneration in idiopathic rapid eye movement sleep behavior disorder: A multicenter study  Voir?

ObjectiveTo assess whether risk factors for Parkinson disease and dementia with Lewy bodies increase rate of defined neurodegenerative disease in idiopathic rapid eye movement (REM) sleep behavior disorder (RBD). MethodsTwelve centers administered a detailed questionnaire assessing risk factors for neurodegenerative synucleinopathy to patients with idiopathic RBD. Variables included demographics, lifestyle factors, pesticide exposures, occupation, comorbid conditions, medication use, family history, and autonomic/motor symptoms. After 4 years of follow‐up, patients were assessed for dementia or parkinsonism. Disease risk was assessed with Kaplan–Meier analysis, and epidemiologic variables were compared between convertors and those still idiopathic using logistic regression. ResultsOf 3...

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