| Abstract: | From a regional survey (northwestern part of France 3,9 millions population) and from recent publications, the authors described clinical and epidemiologic aspects useful for genetic counselling. Besides the chronic chorea, the other clinical features justified the denomination "Huntington's disease". Misdiagnosis is frequent especially if the familial disorder is unknown. A prevalence of 50 X 10(-6) corresponds to 2750 choreics and 14.000 at risk descendants in France. Interfamilial heterogeneity is described from mean age of death which is 54.2 for the whole study: one third of families of late onset, around fifty (mean age of death: 64.6), one third of early onset, around thirty (mean age of death: 44.6). The 17 juvenile and infantile cases of the survey belong to this last group. The influence of gene-transmitters sex is more obvious if two generations are taken in account with a preponderance of fathers and grand-fathers in the early onset group and, to a lesser degree, of mothers and grand-mothers in the late onset group. The authors criticize the preclinical detection tests and, from attitudes of families, underline the ethical problems for the future predictive tests by genetic markers. The role of lay organisations is all the more important. |
