First Clinicogenetic Description of Parkinsons Disease Related to GBA Mutation S107L

摘要

Mutations in the glucocerebrosidase gene ( ) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N‐terminus part of are less commonly found in association with PD than those in the C‐terminus. Phenotypic characterization of ‐related PD has been challenging, in part attributed to differential impact of distinct mutations.