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Article

C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.

Journal of the neurological sciences - 15 Feb 2016

He Miao, Yan Wei-Qian, Zeng Sheng, Liu Zhen, Zhou Yao, Zeng Xian-Feng, Zeng Jun-Sheng, Jiang Hong, Shen Lu, Tang Bei-Sha, Wang Jun-Ling

Abstract excerpt

Expansion of a GGGGCC hexanucleotide repeat in the gene C9ORF72 is a common pathogenic mutation in families with autosomal dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In order to understand whether pathogenic GGGGCC expansions of C9ORF72 are associated with spinocerebellar ataxia (SCA) in mainland China, we performed an experiment to determine the prevalence of pathogenic...

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Identifiers

PMID: 26810537
DOI: 10.1016/j.jns.2015.12.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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