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[Huntington chorea: clniical and molecular analysis in Asturian patients]
I Hernando1, V Alvarez, A García Martínez
1Servicio de Genética, Hospital Central de Asturias, Oviedo.
Unlabelled:
AIM AND PATIENTS: To analyse 38 patients with Huntington's disease from 27 families.
Results:
The CAG repeat at the huntingtin gene was expanded between 40 and 72 times. The size in normal chromosomes varied from 12 to 30 repeats. We found a significantly negative correlation between the number of CAG-repeats and the age of clinical manifestations. However, age and clinical characteristics of the first symptoms were highly variable between patients with a similar size of the expanded allele. Patients who inherited the disease from their fathers showed a higher number of repeats than those who received the disease from their mothers. However, in one case of father to son transmission we observed a reduction of the number of CAG repeats.
Conclusions:
These data make it difficult to use the molecular analysis for the presymptomatic diagnosis of clinical course in individuals carrying the expansion.