The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.


Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
07 2020
Historique:
pubmed: 14 4 2020
medline: 13 10 2021
entrez: 14 4 2020
Statut: ppublish

Résumé

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease affecting both upper and lower motor neurons and leading to progressive paralysis. Most cases are sporadic, and the symptoms generally begin in the sixth or seventh decade. Juvenile ALS appears in a rare subgroup of patients with onset before the age of 25 years old. Contrary to the classical adult phenotype where 90% of cases are sporadic, most cases of juvenile ALS are caused by a genetic mutation in either

Identifiants

pubmed: 32281455
doi: 10.1177/0883073820915099
doi:

Substances chimiques

FUS protein, human 0
Multifunctional Enzymes 0
RNA-Binding Protein FUS 0
Superoxide Dismutase EC 1.15.1.1
SETX protein, human EC 3.6.1.-
DNA Helicases EC 3.6.4.-
RNA Helicases EC 3.6.4.13

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

556-562

Auteurs

Vincent Picher-Martel (V)

Department of Medicine, Faculty of Medicine, Laval University and CHU de Québec- Laval University, Québec, Canada.
Centre de recherche CERVO Brain Research Centre, Québec, Canada.
These authors contributed equally to the work.

Francis Brunet (F)

Department of Medicine, Faculty of Medicine, Laval University and CHU de Québec- Laval University, Québec, Canada.
These authors contributed equally to the work.

Nicolas Dupré (N)

Department of Medicine, Faculty of Medicine, Laval University and CHU de Québec- Laval University, Québec, Canada.

Nicolas Chrestian (N)

Department of Paediatric Neurology, Paediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, Québec, Canada.

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Classifications MeSH