43 results match your criteria: "Centre de Référence Des Maladies Neuromusculaires AOC[Affiliation]"
Orphanet J Rare Dis
December 2024
Centre de Référence Des Maladies Neuromusculaires AOC, CHU de Nantes, Filnemus, Euro-NMD, Hôtel Dieu, Nantes, France.
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
BMJ Open
December 2024
Centre de Référence des Maladies Neuromusculaires AOC, Service de Neurologie et Maladies Neuromusculaires, FILNEMUS, EURO-NMD, Centre Hospitalier Universitaire de Bordeaux Groupe hospitalier Pellegrin, Bordeaux, Aquitaine, France.
Eur J Neurol
January 2025
Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.
Med Sci (Paris)
November 2024
Société francophone du nerf périphérique (SFNP) - Service de neurologie, Hôpital Nord, CHU Saint-Étienne, France.
Med Sci (Paris)
November 2024
Centre de référence des maladies neuromusculaires Nord/Île-de-France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
J Neurol Neurosurg Psychiatry
October 2024
Filière nationale, FILNEMUS, France.
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
Neuromuscul Disord
September 2024
Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, APHP, 47-83 bd de l'Hôpital, Paris 75013, France. Electronic address:
TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.
View Article and Find Full Text PDFNeurobiol Dis
September 2024
University of Lille, Inserm, CHU Lille, UMR-S1172 Lille Neuroscience & Cognition (LilNCog), Lille, France; Department of Medical Pharmacology, CHU de Lille, Lille, France. Electronic address:
Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined and may depend on its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation of their regular caffeine consumption were monitored as part of a prospective multicenter study. Demographic, clinical characteristics, functional disability as measured with revised ALS Functional Rating Scale (ALSFRS-R), cognitive deficits measured using Edinburgh Cognitive and Behavioural ALS Screen (ECAS), survival and riluzole treatment were recorded.
View Article and Find Full Text PDFJ Neurol
September 2024
Peripheral Nervous System and Muscle Department, Université Côte d'Azur, CHU Nice, Pasteur 2, Nice Hospital, France.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles.
View Article and Find Full Text PDFJ Neurol
August 2024
Neurology Department, Bicêtre University Hospital, 94276, Le Kremlin-Bicêtre, France.
Brain
November 2024
Centre de référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, 75013 Paris, France.
Biomedicines
January 2024
Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France.
Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the c.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2024
Service de Neurologie, CHU de Toulouse Purpan, Place du Docteur Baylac TSA 40031, 8. Centre de Référence des Maladies Neuromusculaires AOC, 31059, Toulouse Cedex 9, France.
Arch Pediatr
February 2024
Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Brain
December 2023
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
J Neurol
October 2023
Centre de Référence des Maladies Neuromusculaires AOC, FILNEMUS, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD.
View Article and Find Full Text PDFNeurology
August 2023
From the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Eur J Neurol
September 2023
Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurométabolisme Pédiatrique, Hôpital Timone Enfants, AP-HM, Marseille, France.
Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes.
Methods: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.
Rev Neurol (Paris)
October 2023
Service de neurologie, centre de référence des maladies neuromusculaires et SLA, hôpital de la Timone, Marseille, France. Electronic address:
Treatment strategies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) must be adapted on a case-to-case basis. Validated and reproducible tools for monitoring treatment response are required at diagnosis, when initiating treatment and throughout follow-up. A task force of French neurologists, experts in neuromuscular disease reference centers, was assembled to provide expert advice on the management of typical CIDP with intravenous immunoglobulins (Ig), and to harmonize treatment practices in public and private hospitals.
View Article and Find Full Text PDFBrain Pathol
May 2023
Laboratoire de neurobiologie et neuropathologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
The diagnosis of neurodegenerative diseases is made complex by the heterogenous phenotype of the patients and the regular occurrence of concomitant pathology. Studying clinicopathological correlations in autopsy series is a central approach to improve pathological prediction in clinical practice. However, such method requires a wealth of information, and the use of standard spreadsheet software is hardly suitable.
View Article and Find Full Text PDFEur J Neurol
November 2022
CHU Montpellier, Département de Neuropédiatrie, Univ Montpellier, Montpellier, France.
Background And Purpose: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disorders spectrum in patients with pathogenic variants in ECHS1 and HIBC.
View Article and Find Full Text PDFPediatr Dermatol
January 2023
CHU Nantes, Service de génétique médicale, Centre de Référence des Maladies Neuromusculaires AOC, Filnemus, Euro-NMD, Nantes, France.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity.
View Article and Find Full Text PDFClin Genet
November 2022
APHM, CHU Timone, Département de Génétique Médicale, Marseille, France.
Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33 families sharing the same phenotype characterized by an axonal neuropathy with neuromyotonia and autosomal recessive inheritance (NMAN: OMIM #137200). Histidine Triad Nucleotide Binding Protein 1 regulates transcription, cell-cycle control, and is possibly involved in neuropsychiatric pathophysiology.
View Article and Find Full Text PDFBlood Adv
July 2022
Institut National de la Santé Et de la Recherche Médicale (INSERM), l'Institut du Thorax, Université de Nantes, Centre National de la Recherche Scientifique (CNRS), Nantes, France.
Adeno-associated virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA). We report the first case of fatal systemic thrombotic microangiopathy (TMA) following onasemnogene abeparvovec in a 6-month-old child with SMA type 1, carrying a potential genetic predisposition in the complement factor I gene. Other cases of TMA have recently been reported after onasemnogene abeparvovec and after AAV9 minidystrophin therapy in Duchenne muscular dystrophy.
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