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Article

SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.

Human genetics - 1 May 2009

Wu Yih-Ru, Chen I-Cheng, Soong Bing-Wen, Kao Shih-Huan, Lee Ghin-Chueh, Huang Shu-Yi, Fung Hon-Chung, Lee-Chen Guey-Jen, Chen Chiung-Mei

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) involves bidirectional expression of CUG (ATXN8OS) and CAG (ATXN8) expansion transcripts. The pathogenesis of SCA8 is complex and the spectrum of clinical presentations is broad. In the present study, we assessed the SCA8 repeat size ranges in Taiwanese Parkinson's disease, Alzheimer's disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8...

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Source

Identifiers

PMID: 19229559
DOI: 10.1007/s00439-009-0641-x

Genes

ATXN8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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