Article
GBA Variants and Parkinson Disease: Mechanisms and Treatments.
Cells - 8 Apr 2022
Smith Laura, Schapira Anthony H V
Abstract excerpt
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5-15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor for Parkinson disease (PD). Clinically, GBA-associated PD is identical to sporadic PD, aside from the earlier age at onset (AAO), more frequent cognitive impairment...
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