A5001592874- Amyotrophic Lateral Sclerosis Research
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neurological diseases and metabolism
- Peripheral Nerve Disorders
- Mitochondrial Function and Pathology
- Myasthenia Gravis and Thymoma
- Muscle Physiology and Disorders
- Muscle activation and electromyography studies
- Alzheimer's disease research and treatments
- Cervical and Thoracic Myelopathy
- Nerve injury and regeneration
- Parathyroid Disorders and Treatments
- Autoimmune Neurological Disorders and Treatments
- Transcranial Magnetic Stimulation Studies
- Cerebral Palsy and Movement Disorders
- Botulinum Toxin and Related Neurological Disorders
- Inflammatory Myopathies and Dermatomyositis
- Pain Mechanisms and Treatments
- ATP Synthase and ATPases Research
- Parkinson's Disease and Spinal Disorders
Hôpital de la Timone
2016-2025
Assistance Publique Hôpitaux de Marseille
2014-2025
Aix-Marseille Université
2012-2025
Centre de Résonance Magnétique Biologique et Médicale
2017-2025
Centre National de la Recherche Scientifique
2019-2025
ERN EURO-NMD
2021-2024
Centre de Recherche en Neurobiologie - Neurophysiologie de Marseille
2023
Génétique et Immunologie des Maladies Parasitaires
2016
Hôpital Pasteur
2006
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia extremely rare. We report family with late-onset phenotype including motor neuron disease, cognitive decline resembling dementia, cerebellar ataxia myopathy. In all patients, muscle biopsy showed ragged-red cytochrome c oxidase-negative fibres combined respiratory chain deficiency abnormal assembly of complex V. The...
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of mitochondrial membrane. They have been associated with Charcot-Marie-Tooth disease type 2A autosomal dominant optic atrophy, respectively. We report a large family atrophy beginning early childhood, axonal neuropathy myopathy adult life. The clinical presentation looks like 'plus' phenotype linked to mutations but is novel missense mutation (c.629A>T, p.D210V). Multiple DNA deletions were found skeletal...
Background and purpose: To prospectively investigate causes of death the circumstances surrounding in 302 patients with amyotrophic lateral sclerosis (ALS). The functional status immediately before was also determined. Methods: Information obtained from neurologists at ALS centres, patients’ files, and, when deaths occurred outside a medical facility, attending physicians. Results: Most (63%) died facility. most frequently reported cause respiratory failure (77%), including terminal...
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) RNA interference (RNAi) therapeutics in general. This study presents the longest-term to date patisiran for hATTR-PN. Objective To present adults Design, Setting, Participants global open-label extension (OLE) APOLLO randomized clinical trial phase 2 OLE enrolled patients from 43 hospitals or centers across 19 countries between July 2015 August 2017,...
Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by significant heterogeneity among patients. 23 Na MRI maps abnormal sodium homeostasis that reflects metabolic alterations and energetic failure contributing to the process. In this study, we investigated severity at individual level in ALS patients using brain MRI. Methods 1 H were collected prospectively from 28 Individual map of total concentration (TSC) was computed voxel-based statistical mapping...
Amyotrophic lateral sclerosis (ALS) is a life-threatening disease characterised by progressive loss of motor neurons with few therapeutic options. The MIROCALS study tested the hypothesis that low-dose interleukin-2 (IL-2LD) improves survival and function in ALS. In this randomised, double-blind, placebo-controlled trial, male female riluzole-naive participants, either possible, laboratory-supported probable, or definite ALS diagnosis (revised El Escorial criteria), aged 18-76 years, symptom...
To assess if multifocal motor neuropathy (MMN) with and MMN without conduction block (CB) are similar or distinct diseases.The authors reviewed the clinical features responses to IV immunoglobulin (IVIg) treatment of patients CB at diagnosis, after 4 years follow-up last examination. They included all showing who had been followed for least years: All asymmetric purely weakness a peripheral nerve distribution, any sensory, bulbar, respiratory signs upper neuron involvement.Twenty 13 no CB....
Respiratory muscle involvement is one of the main prognostic factors in amyotrophic lateral sclerosis (ALS). Acute respiratory failure sometimes first manifestation disease, although onset can be more insidious. In present retrospective study, it was proposed to review clinical features and assess effects non-invasive ventilation (NIV) on prognosis patients with onset, which taken when symptoms muscular weakness were dyspnoea at exertion, rest, or orthopnoea. ALS uncommon, since accounts for...
Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity screen all these high efficiency in order unravel genetic basis disease. Here, we compare diagnostic yield NGS our previous gene by Sanger strategy. We also describe several novel likely pathogenic variants.We have completed 81 IPN cohort 123 unrelated patients...
Abstract This monocentric prospective study of patient suffering from Amyotrophic lateral sclerosis (ALS) aims to evaluate the prognosis and diagnostic potential both Neurofilament-Light (Nf-L) neuroinflammatory biomarkers in serum CSF. Candidate markers levels were measured using multiplex method 60 ALS patients, 94 healthy controls 43 patients Inflammatory Peripheral Neuropathies (IPN). A comparative CSF analysis was performed for 20 17 IPN patients. Among altered biomarkers, Nf-L level...
We compared the clinical, electrophysiological, laboratory, and pathological features of 13 patients with Lewis–Sumner syndrome (LSS) those 20 multifocal motor neuropathy (MMN). LSS MMN have several common clinical features: age at onset, weakness in distribution individual peripheral nerves, mild wasting, cramps fasciculations, partial areflexia, frequent stepwise disease course. Cerebrospinal fluid protein level was normal or slightly elevated, but always less than 100 mg/dl. Conduction...
In this preliminary study, our objective was to investigate the potential of high-resolution anatomical imaging, diffusion tensor imaging (DTI) and conventional/inhomogeneous magnetization transfer [magnetization (MT)/inhomogeneous (ihMT)] at 3 T, analyzed with template-extracted regions interest, measure atrophy structural changes white (WM) gray (GM) matter spinal cord (SC) occurring in patients amyotrophic lateral sclerosis (ALS). Ten ALS 20 age-matched healthy controls were recruited. SC...
ABSTRACT Introduction: The diagnostic sensitivity of repetitive nerve stimulation (RNS) in patients with myasthenia gravis (MG) varies as a function the number muscles or choice studied. Methods: By exploring 12 bilaterally, we evaluated global RNS at rest, different clinical forms, and combinations Results: was 82%, specificity 100%. MG subgroups follows: ocular (O) = 67%; oculobulbar (OB) 86%; generalized (G) 89%. most sensitive were anconeus group O, orbicularis oculi (OO) nasalis OB,...
Hereditary transthyretin (ATTRv; v for variant) amyloidosis, also known as hATTR is a progressive and fatal disease associated with rapid deterioration of physical function patients' quality life (QOL). Vutrisiran, subcutaneously administered RNA interference (RNAi) therapeutic that reduces hepatic production transthyretin, was assessed in patients ATTRv amyloidosis polyneuropathy the pivotal HELIOS-A study.The phase 3 open-label study investigated efficacy safety vutrisiran polyneuropathy,...
<h3>Objective:</h3> To determine the responses to treatment of patients with chronic sensory ataxic neuropathy associated anti-GD1b IgM antibodies. <h3>Methods:</h3> Patients antibodies followed in our department for at least 12 months between 2001 and 2008 were identified studied retrospectively. tested regular intervals using INCAT disability score. whose scores improved by one point taken have responded treatment. Intravenous immunoglobulin (IVIg; 2 g/kg) was administered 3 5 days once...
Our aim was to document the classification of Lewis-Sumner syndrome (L-SS) based on response treatment and pattern progression over time.We retrospectively identified 15 patients with L-SS treated for at least 12 months.After 1 year, intravenous immunoglobulin effective in 7 patients, 6 were stable, 2 worsened. After 5 years, had improved, 3 stable. These 8 needed repeated treatment, gradually Two worsened dramatically after steroid treatment. In neuropathy progressed other limbs developed...
Abstract Background Fat infiltration in individual muscles of sporadic inclusion body myositis (sIBM) patients has rarely been assessed. Methods Sixteen sIBM were assessed using MRI the thighs and lower legs (LL). The severity fat infiltration, proximal‐to‐distal side asymmetries, correlations with clinical functional parameters investigated. Results All had fat‐infiltrated muscles, more severely affected than LL. A gradient was mainly observed for adductors, quadriceps, sartorius, medial...