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Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

Human mutation - 1 May 2005

García-Planells Javier, Burguera Juan A, Solís Pilar, Millán José M, Ginestar Damián, Palau Francesc, Espinós Carmen

Abstract excerpt

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational events account for...

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PMID: 15832309
DOI: 10.1002/humu.20167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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