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Article

Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

Cerebellum (London, England) - 1 Jan 2008

Ikeda Yoshio, Daughters Randy S, Ranum Laura P W

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited, slowly progressive neurodegenerative disorder caused by a CTG.CAG repeat expansion located on chromosome 13q21. The expansion mutation was isolated directly from the DNA of a single patient using RAPID cloning and subsequently shown to co-segregate with disease in additional ataxia families including a seven-generation kindred (the MN-A family). The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18418692
DOI: 10.1007/s12311-008-0010-7

Genes

ATXN8

Provenance

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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