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Article

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.

Prion - 4 Mar 2018

Wang Jing, Xiao Kang, Zhou Wei, Gao Chen, Chen Cao, Shi Qi, Dong Xiao-Ping

Abstract excerpt

Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrPSc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations...

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Identifiers

PMID: 29509064
DOI: 10.1080/19336896.2018.1447733
PMCID: PMC6016514

Genes

GSS
PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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