Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein (PRNP) gene. It is typically characterized by progressive cerebellar ataxia and slowly progressive dementia. We present a case study of the GSS from China in which a 45-year-old ma...

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Detalles Bibliográficos
Autores principales: Chen, Lin, Xu, Yin, Fang, Ming-juan, Shi, Yong-guang, Zhang, Jie, Zhang, Liang-liang, Wang, Yu, Han, Yong-zhu, Hu, Ji-yuan, Yang, Ren-min, Yu, Xu-en
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435367/
https://www.ncbi.nlm.nih.gov/pubmed/37602242
http://dx.doi.org/10.3389/fneur.2023.1187813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435367/
https://www.ncbi.nlm.nih.gov/pubmed/37602242
http://dx.doi.org/10.3389/fneur.2023.1187813

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