A5057953137- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Prion Diseases and Protein Misfolding
- Alzheimer's disease research and treatments
- Cholinesterase and Neurodegenerative Diseases
- Microtubule and mitosis dynamics
- Hereditary Neurological Disorders
- Nerve injury and regeneration
- Peripheral Neuropathies and Disorders
- Cancer-related gene regulation
- Muscle Physiology and Disorders
- Neuroscience and Neuropharmacology Research
- Neurological disorders and treatments
- Biochemical Acid Research Studies
- Synthetic Organic Chemistry Methods
- Health, Medicine and Society
- Photoreceptor and optogenetics research
- Hearing, Cochlea, Tinnitus, Genetics
- Neuroinflammation and Neurodegeneration Mechanisms
- Skin and Cellular Biology Research
- Restless Legs Syndrome Research
- Semantic Web and Ontologies
Générale de Santé
2016-2023
Ramsay Santé Hôpital privé des Peupliers
2021
Assistance Publique – Hôpitaux de Paris
2010-2020
Pitié-Salpêtrière Hospital
2011-2020
Sorbonne Université
2011-2020
Centre Hospitalier Universitaire de Tours
2008-2017
Hôpital Charles-Foix
2016
REseau NAtional de Rpe interDisciplinaire
2016
Institut du Cerveau
2016
Hôpital Bretonneau
2015
Amyotrophic lateral sclerosis is a progressive motor neuron disease for which there no adequate treatment. Some research suggests that the excitatory amino acid neurotransmitter glutamate may be involved in pathogenesis.
Amyotrophic lateral sclerosis (ALS) is the most serious form of degenerative motor neuron disease in adults, characterized by upper and lower degeneration, skeletal muscle atrophy, paralysis, death. High prevalence malnutrition weight loss adversely affect quality life. Moreover, two thirds patients develop a hypermetabolism unknown cause, leading to increased resting energy expenditure. Inasmuch as lipids are major source for muscles, we determined status population with ALS investigated...
Journal Article Variants of the heavy neurofilament subunit are associated with development amyotrophic lateral sclerosis Get access Denise A. Figlewicz, Figlewicz * Centre for Research in Neuroscience, McGill University and Department Neurology, Montreal General Hospital1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada *To whom correspondence should be addressed at present address: Rochester Medical Center, 601 Elmwood Avenue/Box 673, Rochester, NY 14642, USA Search other works by this...
TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions motoneuron disease (MND), as well frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations TARDBP gene, coding for TDP-43, were found patients pure MND. We now describe mutations two FTLD-MND, presenting a behavioral variant of semantic dementia, suggesting that may also have direct pathogenic role disorders.
<h3>Background</h3> Mutations in <i>SOD1</i>, <i>ANG</i>, <i>VAPB</i>, <i>TARDBP</i> and <i>FUS</i> genes have been identified amyotrophic lateral sclerosis (ALS). <h3>Methods</h3> The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort 162 families enrolled France 500 controls (1000 chromosomes) using molecular analysis techniques performing phenotype–genotype correlations. <h3>Results</h3> 31 pathogenic missense found 36 patients (20...
We conducted a double-blind, placebo-controlled, study of 19 patients fulfilling eligibility criteria for multifocal motor neuropathy with persistent conduction block. They were enrolled and divided into two groups: those who had never been treated previously intravenous immunoglobulins (IVIg) (Group 1: 10 patients) presented recurrent symptoms after successful treatment IVIg 2: nine patients). randomized prospectively to receive either or placebo at dose 500 mg/kg/day 5 consecutive days,...
In amyotrophic lateral sclerosis (ALS), the progressive loss of upper and lower motor neurons leads to respiratory failure, often with predominant diaphragm dysfunction, death. Because is only active inspiratory muscle during rapid eye movement (REM) sleep, there a high theoretical risk disorders REM sleep in patients ALS. To assess this hypothesis, we studied characteristics (polysomnography) 21 ALS, stratified according presence or absence diaphragmatic dysfunction. Diaphragmatic...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons that results in progressive weakness and death from respiratory failure, commonly within about 3 years. Previous studies have shown association locus on chromosome 9p with ALS linkage ALS-frontotemporal dementia. We aimed to test whether this genomic region also associated an independent set UK samples, identify risk factors further genome-wide study combined data the analysis those other countries.We...
Peripherin is a neuronal intermediate filament associated with inclusion bodies in motor neurons of patients amyotrophic lateral sclerosis (ALS). A possible peripherin involvement ALS pathogenesis has been suggested based on studies transgenic mouse overexpressors and toxic splicing variant the gene. However, existence gene mutations human not yet documented. Therefore, we screened for sequence variants (<i>PRPH</i>) cohort including familial sporadic cases. We identified 18 polymorphic...
ALS is a progressive motor neuron disease with no effective treatment.The anti-excitotoxic drug riluzole (100 mg/day) has been shown to decrease mortality and muscular deterioration in patients. To confirm extend the therapeutic effect of riluzole, we performed double-blind, placebo-controlled, multicenter, international, dose-ranging (50, 100, 200 mg/day), stratified study 959 outpatients treated for up 18 months. Primary efficacy criterion was survival treatment analyzed before (Wilcoxon...
Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility phenotypes sporadic ALS, we performed genome-wide SNP analysis ALS cases controls. A total 288,357 SNPs were screened set 1,821 2,258 controls from U.S. Europe. Survival was using 1,014 deceased cases. Top results for further an independent sample 538 556 rs1541160 KIFAP3...
Mutations in the TARDBP gene, which encodes TAR DNA binding protein (TDP-43), have been described individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened gene 285 French ALS patients to assess frequency of mutations ALS.Six had potentially deleterious three were novel including a Y374X truncating mutation P363A A382P missense mutations. This suggests that may predispose approximately 2% followed this study.Our findings, combined those from other collections,...
Death represents the main hallmark of amyotrophic lateral sclerosis (ALS). Despite its importance in clinical care and phase III trials, many uncertainties remain on cause death due to lack post-mortem verifications. To provide a more robust approach these causes, we performed retrospective pathological study large cohort patients. 100 ALS patients referred for deterioration their condition who died clinic Salpétrière had complete macroscopic microscopic analysis. The causes reported medical...
Background Expanded GGGGCC hexanucleotide repeats in the promoter of C9ORF72 gene have recently been identified frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD appear as most common genetic cause familial (FALS) sporadic (SALS) forms ALS. Methods We searched for repeat expansion 950 French ALS patients (225 FALS 725 SALS) 580 control subjects performed genotype-phenotype correlations. Results The was present 46% FALS, 8% SALS 0% controls. Phenotype comparisons...
Our objectives were to analyse carbohydrate metabolism in a series of ALS patients and examine potential association with parameters lipid clinical features. Glucose tolerance was assessed by the oral glucose test 21 non-diabetic compared age- sex-matched normal subjects. Lipids lactate/pyruvate ratio, levels pro-inflammatory cytokines (tumour necrosis factor-alpha interleukin-6) adipocytokines (leptin adiponectin) also measured patients. Mann-Whitney U-tests analysed continuous data...
The aim of this study was to investigate the extent cortical and subcortical lesions in amyotrophic lateral sclerosis (ALS) using, combination, voxel based diffusion tensor imaging (DTI) morphometry (VBM). We included 15 patients with definite or probable ALS 25 healthy volunteers. Patients were assessed using revised Functional Rating Scale (ALSFRS-R). In patients, reduced fractional anisotropy found bilateral corticospinal tracts, left insula/ventrolateral premotor cortex, right parietal...