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Huntington's Disease In a Coloured Family
Abstract
A South African Coloured (of mixed descent) family with Huntington's disease in which all four members of one sibship, ranging in age from 16 to 23 years, are affected, is described. One generation back, definitely two, and possibly three, members of a sibship of six were affected with the adult form. The offspring of the one affected male all show some evidence of this condition, the age of onset being between 13 and 16 years. The offspring of the one female carrier who was definitely affected do not at this time appear to have been affected. The literature concerning juvenile Huntington's disease, especially with regard to its clinical presentation, EEG, and air encephalographic findings, is reviewed and compared with the family described. The predominance of rigidity and akinesia in the juvenile form, as opposed to chorea, which is the main adult extrapyramidal manifestation, is stressed. This is, to our knowledge, the first report of a Coloured (mixed descent) family's manifesting the clinical features of juvenile Huntington's disease.
