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Article

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

European journal of human genetics : EJHG - 1 Oct 2003

Martins Sandra, Matamá Teresa, Guimarães Laura, Vale José, Guimarães João, Ramos Lina, Coutinho Paula, Sequeiros Jorge, Silveira Isabel

Abstract excerpt

Dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by a variable combination of progressive ataxia, epilepsy, myoclonus, choreoathetosis and dementia. This disease is caused by a (CAG)(n) expansion in the DRPLA gene, on chromosome 12p13. DRPLA is prevalent in Japan, but several families of non-Japanese ancestry have already been published. To identify the...

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PMID: 14512972
DOI: 10.1038/sj.ejhg.5201054

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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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