SOD1-related ALS with anticipation in a large family from Martinique.

Amyotrophic Lateral Sclerosis / genetics DNA-Binding Proteins / genetics Humans Martinique Mutation / genetics Superoxide Dismutase-1 / genetics
CoDE-Seq method Genetic Amyotrophic Lateral Sclerosis Next Generation Sequencing anticipation

Journal

Amyotrophic lateral sclerosis & frontotemporal degeneration
ISSN: 2167-9223
Titre abrégé: Amyotroph Lateral Scler Frontotemporal Degener
Pays: England
ID NLM: 101587185

Informations de publication

Date de publication:
11 2021
Historique:
pubmed: 24 3 2021
medline: 26 11 2021
entrez: 23 3 2021
Statut: ppublish

Résumé

Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic variant is found in one of the following genes:

Identifiants

DOI: 10.1080/21678421.2021.1900870 PMID: 33754899
pubmed: 33754899
doi: 10.1080/21678421.2021.1900870
doi:

Substances chimiques

DNA-Binding Proteins 0
SOD1 protein, human 0
Superoxide Dismutase-1 EC 1.15.1.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

545-551

Auteurs

Anna-Gaelle Giguet-Valard (AG)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Rémi Bellance (R)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Séverine Jeannin (S)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Sophie Duclos (S)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Pascale Olive (P)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Oriane Allard-Saint-Albin (O)

Neurological and Neuromuscular Rare disorders department, CERCA, University Hospital Center of Martinique, Martinique, France.

Cécile Cazeneuve (C)

University Hospital Center of Paris, La Pitié Salpétrière Hospital, Paris, France.

Fabienne Clot (F)

University Hospital Center of Paris, La Pitié Salpétrière Hospital, Paris, France.

Pittion-Vouyovitch Sophie (PV)

Genetic Department, University Hospital of Nancy, Hospital of Brabois, Nancy, France.

Thomas Barnetche (T)

Rheumatology Department/FHU ACRONIM/Rare Systemic Autoimmune Diseases Reference Center, Bordeaux University, Bordeaux, France.

Juliette Smith-Ravin (J)

Research group BIOSPHERES/AREBIO, University of Antilles-Campus Schoelcher, Martinique, France.

Cyril Goizet (C)

Department of Medical Genetics, National Reference Center for Rare Diseases 'Neurogenetic', Pellegrin Hospital, Bordeaux University Hospital, Bordeaux, France and.
Rare Diseases Laboratory: Genetics and Metabolism (MRGM), INSERM U1211, Bordeaux University, Bordeaux, France.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › SOD1-related ALS with anticipation in a large...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › SOD1-related ALS with anticipation in a large...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › SOD1-related ALS with anticipation in a large...
questionsmedicales.fr › Régions géographiques › Iles › Antilles › Martinique › SOD1-related ALS with anticipation in a large...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › SOD1-related ALS with anticipation in a large...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Superoxide dismutase › Superoxide dismutase-1 › SOD1-related ALS with anticipation in a large...