Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).
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.
Jayadev
Suman
S
Department of Neurology, University of Washington, USA.
Michelson
Sara
S
Lipe
Hillary
H
Bird
Thomas
T
D000328:Adult; D000067699:Ataxin-3; D002160:Cambodia / Q000208:ethnology; D025063:Chromosome Disorders / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D017827:Machado-Joseph Disease / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3