Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).

Full Abstract

Four families from the same region of Cambodia immigrated to the Pacific Northwest of the United States. All four families have been discovered to have spinocerebellar ataxia type 3 (SCA 3; Machado-Joseph disease) with a similar clinical phenotype. CAG repeat expansions in the ATXN3 gene range from 72 to 77. Mean age of onset has varied from 19 to 44 years and mean age at death of 4 individuals has been 60 years. The prevalence of the various subtypes of SCA varies worldwide from country to country. Neurologists should be alert to the possibility of SCA 3 in Cambodian patients with unexplained cerebellar ataxia.

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Author information

Author/s: Jayadev, Suman (S); Michelson, Sara (S); Lipe, Hillary (H); Bird, Thomas (T);

Affiliation: Department of Neurology, University of Washington, USA.

Grants: 5T32AG000258-08 (Agency:NIA NIH HHS)

Journal and publication information

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

Journal: Journal of the neurological sciences (J Neurol Sci), published in Netherlands. (Language: eng)

Reference: 2006-Dec; vol 250 (issue 1-2) : pp 110-3

Dates: Created 2006/11/07; Completed 2007/01/23; Revised 2007/12/03;

PMID: 17027034, status: MEDLINE (last retrieval date: 12/26/2008)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Cambodia - ethnology
Chromosome Disorders - ethnology; genetics
DNA Mutational Analysis
Disease Progression
Female
Founder Effect
Genes, Dominant - genetics
Genetic Predisposition to Disease - genetics
Genetic Screening
Heterozygote

Heterozygote
Humans
Machado-Joseph Disease - ethnology; genetics
Male
Middle Aged
Mutation - genetics
Nerve Tissue Proteins - genetics
Nuclear Proteins - genetics
Pedigree
Phenotype
Repressor Proteins - genetics

Associated Chemicals: Nerve Tissue Proteins (0) ; Nuclear Proteins (0) ; Repressor Proteins (0) ; ATXN3 protein, human (EC 3.4.22.-)

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