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Article

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Nature genetics - 1 Apr 1999

Koob M D, Moseley M L, Schut L J, Benzow K A, Bird T D, Day J W, Ranum L P

Abstract excerpt

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM...

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PMID: 10192387
DOI: 10.1038/7710

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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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