Article
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
Neurogenetics - 1 Mar 2006
Chien Hsin F, Rohé Christan F, Costa Maria D L, Breedveld Guido J, Oostra Ben A, Barbosa Egberto R, Bonifati Vincenzo
Abstract excerpt
We describe clinical and molecular findings in a genetic isolate from north-eastern Brazil with early-onset Parkinson's disease (PD) and a novel mutation in the parkin gene. Genealogical studies could connect 255 individuals, of whom 15 had PD. Geographic isolation and multiple consanguineous marriages initially suggested an autosomal recessive inheritance for PD in these patients. The available individuals were...
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