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Article

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

Neurosciences (Riyadh, Saudi Arabia) - 1 Apr 2017

Long Ling, Cai Xiaodong, Shu Yaqing, Lu Zhengqi

Abstract excerpt

Gerstmann-Straussler-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 symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a...

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Identifiers

PMID: 28416787
DOI: 10.17712/nsj.2017.2.20160522
PMCID: PMC5726821

Genes

GSS
PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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