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Article

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2015

Katagiri Satoshi, Hayashi Takaaki, Takeuchi Tomokazu, Yamada Hisashi, Gekka Tamaki, Kawabe Kiyokazu, Kurita Akira, Tsuneoka Hiroshi

Abstract excerpt

PURPOSE: Spinocerebellar ataxia type 7 (SCA7) is a disease characterized by progressive ataxia syndrome and retinal degeneration. SCA7 is caused by expansion of CAG repeats in the ataxin 7 gene. The purpose of this study was to describe the clinical and genetic features in a two-generation Japanese family with SCA7. METHODS: The female proband underwent systemic examinations that included neurological and...

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Source

Identifiers

PMID: 25643591
DOI: 10.1007/s10633-015-9488-8

Genes

ATXN7

Provenance

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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