Huntington's disease confirmed by genetic testing in five African families.
Huntington's disease is an autosomal-dominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.
Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand.
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E
Silber
J
J
Kromberg
J A
JA
Temlett
A
A
Krause
D
D
Saffer
D044383:Black People / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013019:South Africa; D018911:Trinucleotide Repeats / Q000235:genetics; D044465:White People / Q000235:genetics