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Article

Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.

Expert reviews in molecular medicine - 22 Aug 2003

Rudnicki Dobrila D, Margolis Russell L

Abstract excerpt

Repeat-expansion mutations cause 13 autosomal dominant neurodegenerative disorders falling into three groups. Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and spinocerebellar ataxias (SCAs) types 1, 2, 3, 7 and 17 are each caused by a CAG repeat expansion that encodes polyglutamine. Convergent lines of evidence demonstrate that...

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PMID: 14585172
DOI: 10.1017/S1462399403006598

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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