HUNTINGTONS-DISEASE - CURRENT STATE OF RESEARCH

Huntington's disease is a hereditary disease with autosomal dominant t ransmission which generally occurs in adults. The gene was discovered in 1983 and the genetic abnormality in March 1993. The most commonly r ecognized clinical manifestation is choreiform movements although othe r signs often appear more invalidating to family and friends. Cognitiv e decline, modifications in behaviour, and sometimes psychiatric distu rbances are perceived as the major handicap in everyday life, In this review, emphasis has been placed on late onset forms of the disease. R ecent research has focused on morphologic and functional imagery, the neuropathologic stages of selective neurone loss beginning in the stri atum, and the role of excitotoxic amino-acids. Certain ethical conside rations must be addressed when determining prognosis. Predictive tests and follow up must be prepared and conducted scrupulously and propose d to voluntary, informed, major subjects at risk. Tests should be perf ormed by a qualified laboratory working on anonymous samples, independ ent of the clinical team, and should be given to the subject orally by a genetic counsellor. A prenatal test may be requested by parents at risk. The question of treatment, which to date can only offer symptoma tic relief, should be re-addressed in light of the recent discovery of the mutation published in March 1993.