The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
adolescents
developmental disability
genetics
mutation
pediatric
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
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