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Article

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1.

Human genetics - 1 Nov 1998

Koefoed P, Hasholt L, Fenger K, Nielsen J E, Eiberg H, Buschard K, Sørensen S A

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is an autosomal, dominantly inherited neurodegenerative disease caused by an unstable CAG trinucleotide repeat expansion in the ataxin-1 gene located on chromosome 6p22-p23. The expanded CAG repeat is unstable during transmission, and a variation in the CAG repeat length has been found in different tissues, including sperm samples from affected males. In order further to...

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PMID: 9860298
DOI: 10.1007/s004390050870

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

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