Glucocerebrosidase Mutations in Parkinson Disease.

Abstract excerpt

Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD. GBA mutations are now known to be the single largest risk factor for development of idiopathic PD. Clinically, on...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glucosylceramidase
• Share to Lysosomal Storage Disorders Research
• Share to Mutation