Article
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
Neurochemistry international - 1 Feb 2016
Barkhuizen Melinda, Anderson David G, Grobler Anne F
Abstract excerpt
GBA mutations are to date the most common genetic risk factor for Parkinson's disease. The GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and bi-allelic mutations confer risk for Parkinson's disease. Clinically, Parkinson's disease patients with GBA mutations resemble idiopathic Parkinson's disease patients. However, these patients have...
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