Article
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Trends in molecular medicine - 1 Sept 2011
Westbroek Wendy, Gustafson Ann Marie, Sidransky Ellen
Abstract excerpt
Clinical, genetic and pathological studies demonstrate that mutations in glucocerebrosidase (GBA), which encodes the lysosomal enzyme deficient in Gaucher disease (GD), are risk factors for Parkinson disease (PD) and related disorders. Some patients with GD and Gaucher carriers develop parkinsonism. Furthermore, subjects with PD have an increased frequency of GBA mutations. GBA-mutation carriers exhibit diverse...
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