A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene

Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptom...

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Detalles Bibliográficos
Autores principales: Long, Ling, Cai, Xiaodong, Shu, Yaqing, Lu, Zhengqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726821/
https://www.ncbi.nlm.nih.gov/pubmed/28416787
http://dx.doi.org/10.17712/nsj.2017.2.20160522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726821/
https://www.ncbi.nlm.nih.gov/pubmed/28416787
http://dx.doi.org/10.17712/nsj.2017.2.20160522

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