Amyotrophic lateral sclerosis associated with a pathological expansion in the

Amyotrophic Lateral Sclerosis / complications Ataxin-7 / genetics Female Humans Phenotype Retinal Dystrophies / complications Spinocerebellar Ataxias / complications
Amyotrophic lateral sclerosis ataxin-7 gene motor neuron disease polyglutamine expansion. spinocerebellar ataxia type 7

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:
08 2022
Historique:
pubmed: 7 12 2021
medline: 20 7 2022
entrez: 6 12 2021
Statut: ppublish

Résumé

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant hereditary neurodegenerative disease caused by the expansion of a CAG-repeat in the ataxin-7 (

Identifiants

DOI: 10.1080/21678421.2021.1998537 PMID: 34870541
pubmed: 34870541
doi: 10.1080/21678421.2021.1998537
doi:

Substances chimiques

Ataxin-7 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

470-472

Auteurs

Florent Cluse (F)

ALS Resource and Competence Centre, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
Electroneuromyography and Neuromuscular Diseases Unit, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.

Emilien Bernard (E)

ALS Resource and Competence Centre, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
Electroneuromyography and Neuromuscular Diseases Unit, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
NeuroMyoGène Institute, CNRS UMR5310, INSERM U1217, University of Lyon I, Lyon, France.
ORCID: 0000-0002-3952-9265

Isabelle Strubi-Vuillaume (I)

Biology and Pathology Centre, University Hospital of Lille, Lille, France.

David Devos (D)

Department of Pharmacology, LiCEND, ALS Expert Center, University Hospital of Lille, University of Lille, Lille Neuroscience & Cognition, Inserm U1172, Lille, France.
ORCID: 0000-0002-2417-799X

Kevin Mouzat (K)

Laboratory of Biochemistry and Molecular Biology, University Hospital of Nîmes, Nîmes, Motoneuron Disease: Pathophysiology and Therapy, INM, University of Montpellier, Montpellier, France.

Serge Lumbroso (S)

Laboratory of Biochemistry and Molecular Biology, University Hospital of Nîmes, Nîmes, Motoneuron Disease: Pathophysiology and Therapy, INM, University of Montpellier, Montpellier, France.

Caroline Froment Tilikete (C)

Neuro-ophtalmology and Neuro-cognition Unit, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
Faculté de médecine Lyon Est, University of Lyon, Lyon, France.
Lyon Neuroscience Research Center, INSERM U1028 CNRS UMR 5292, Team impact, Bron, France.

StÉphane Thobois (S)

ALS Resource and Competence Centre, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
Faculté de médecine et de Maïeutique Lyon Sud Charles Mérieux, University of Lyon, Lyon, France, and.
CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, Bron, France.

Antoine Pegat (A)

ALS Resource and Competence Centre, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, France.
Electroneuromyography and Neuromuscular Diseases Unit, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Bron, 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 › Amyotrophic lateral sclerosis associated with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Ataxines › Ataxine-7 › Amyotrophic lateral sclerosis associated with...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Amyotrophic lateral sclerosis associated with...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Amyotrophic lateral sclerosis associated with...
questionsmedicales.fr › Maladies de l'oeil › Rétinopathies › Dégénérescence de la rétine › Dystrophies rétiniennes › Amyotrophic lateral sclerosis associated with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › Amyotrophic lateral sclerosis associated with...