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Genetic linkage analysis and presymptomatic testing in Huntington's disease. First report in Italy
L Di Maio1, S Boiano, F Squitieri
1II Facoltà di Medicina, Clinica Neurologica II, Università degli studi di Napoli.
Acta Neurologica
|August 1, 1992
Abstract:
Since 1979 data about Huntington's Disease (HD) in Campania, a region of Southern Italy, has been collecting. The prevalence of HD in this sample is 30.3 x 10(-6) (115 pedigrees, 1470 individuals). Mean age at onset was 38.67 years and the juvenile (onset before 20 years) accounted for 5.8%. Genetic linkage analysis in 4 unrelated pedigrees with D4S10 and D4S95 DNA probes has been performed. The absence of genetic heterogeneity--already proposed in a cooperative study for one pedigree--has been confirmed in this study.