Huntington’s Disease: Genetic Heterogeneity in Black African Patients (Original Articles)
Objective. Huntington’s disease (HD) has been reported to occur rarely in black patients. A new genetic variant-Huntington’s disease-like 2 (HDL2)–occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded as a way of excluding classic HD. The objective of this paper is to describe a number of black patients with genetically proven HD and to review its occurrence in Africa. Methods. Eleven black families (12 subjects), with genetically proven HD, are described: 9 from the Dr George Mukhari Hospital, and 2 from private practice in Tshwane.