Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.
Gerstmann-Sträussler-Scheinker syndrome
P102L
PRNP gene
prion disease
spinocerebellar ataxia (SCA)
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
19
04
2023
accepted:
13
07
2023
medline:
21
8
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
epublish
Résumé
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein (
Identifiants
pubmed: 37602242
doi: 10.3389/fneur.2023.1187813
pmc: PMC10435367
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1187813Informations de copyright
Copyright © 2023 Chen, Xu, Fang, Shi, Zhang, Zhang, Wang, Han, Hu, Yang and Yu.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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