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Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing.

Neurobiology of aging - 1 Jan 2017

Li Hong-Fu, Liu Zhi-Jun, Dong Hai-Lin, Xie Juan-Juan, Zhao Shao-Yun, Ni Wang, Dong Yi, Wu Zhi-Ying

Abstract excerpt

Gerstmann-Sträussler-Scheinker (GSS) is an autosomal dominant neurodegenerative disease due to mutations within prion protein (PRNP) gene. Clinically, it is not easy to distinguish GSS from spinocerebellar ataxia (SCA), especially in the early stage of disease. We aimed to identify genetic mutations in 8 Chinese pedigrees with dominant ataxia but excluded dynamic mutations of SCA genes. Targeted next-generation...

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Source

Identifiers

PMID: 28340953
DOI: 10.1016/j.neurobiolaging.2016.09.018

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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