[Results of a program of presymptomatic diagnosis of Huntington's disease: evaluation of a 6 year period]. / Resultados de un programa de diagnóstico presintomático en la enfermedad de Huntington: evaluación de un período de 6 años.

OBJECTIVE: To know the uptake of predictive testing of Huntington's disease, the characteristics of the applicants, as well as the consequences for them. METHODS: Prospective observational study between January of 1994 and December of 1999 of the predictive testing applicants who entered in the protocol consisted of: informative interview, psychiatric interview, blood extraction for molecular study, as well as outcome and follow-up interviews. RESULTS: There were 87 applicants with a 50% risk. The mean age of the applicants was 28 years (SD = 7). Thirty one per cent already had children in the moment of predictive testing. The application rate according to the estimate population with 50% risk for the Comunidad Valenciana is 13,4%. The rate varies depending on the access to the information of the population in risk, being of 24,7% when they have direct access and of 8,3% when they do not have it (p < 0,01). Forty per cent did not come to the post-outcome visit, the positive or negative result for the mutation not influencing over it. Only 6,8% had some adverse event in the six years of follow-up all being slight. CONCLUSIONS: The application rate is determined by the access to the information of the population in risk. The fulfilment of the protocol designed for presymptomatic diagnosis of Huntington's disease keeps the adverse events presentation to a minimum.

[Huntington disease: clinical and genetic study in a Spanish population]. / Enfermedad de Huntington: estudio clínico y genético en una población española.

Clinical and genetic data of 18 unrelated patients diagnosed of Huntington's disease were studied. We examined age of onset, form of presentation, years of evolution and scores on the Shoulson-Fahn function scale, the Myers disability scale and the mini-mental state examination. The 3 clinical parameters show a linear correlation with years of disease duration. The mini-mental test was most sensitive to progression and was most closely correlated (r = 0.75, p = 0.001). Molecular analysis of the IT15 gene for all 18 patients and 96 control chromosome was performed; the range of CAG repeats was 9-29 for controls and 36-69 for patients. The correlation decreased exponentially with age of onset of symptoms and number of CAG repeats.