Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.

ABSTRACT: Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into "severe," "mild," or "complex"-resulting from recombinant alleles-based on the phenotypic effects in GD) and "risk" variants, which are not associated with GD but nevertheless confer increased risk of PD. As a group, GBA-PD patients have more severe motor and nonmotor symptoms, faster disease progression, and reduced survival compared with noncarriers. However, different GBA variants impact variably on clinical phenotype. In the heterozygous state, "complex" and "severe" variants are associated with a more aggressive and rapidly progressive disease. Conversely, "mild" and "risk" va

SUBMITTER: Menozzi E 

PROVIDER: S-EPMC8264189 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature