Article
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.
Neurology - 7 Feb 2012
Anheim M, Elbaz A, Lesage S, Durr A, Condroyer C, Viallet F, Pollak P, Bonaïti B, Bonaïti-Pellié C, Brice A
Abstract excerpt
OBJECTIVE: Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers. METHODS: Probands with familial PD were...
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