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Article

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.

Human genetics - 1 Nov 1996

Gaspar C, Lopes-Cendes I, DeStefano A L, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer L A, Rouleau G A

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean ancestry. The hypothesis that its present world distribution could result from the spread of an original founder mutation has been raised. To test this possibility we have conducted a linkage disequilibrium study of markers segregating with the MJD1 locus in a total of 64...

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Identifiers

PMID: 8882886
DOI: 10.1007/s004390050270

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.PMID 8882886Read ↗

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Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSemantic proximity Read ↗

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.Semantic proximity Read ↗

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.Semantic proximity Read ↗

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