Imaging and genetics in Parkinson's disease: assessment of the GBA1 mutation.

ABSTRACT:

Introduction

Several genetic variants are associated with an increased risk for developing Parkinson's Disease (PD) and limited genotype/phenotype correlation. Specifically, mutations in GBA1, the gene coding for the lysosomal enzyme glucocerebrosidase, are associated with an earlier age of onset and faster disease progression. Given these phenotypic differences associated with GBA1 variants, we explored whether cortical thickness and other biomarkers of neurodegeneration differed in healthy controls and PD patients with and without GBA1 variants.

Methods

To understand how different GBA1 variants influence PD phenotype early in the disease, we retrieved neuroimaging and biospecimen data from the Parkinson's Progression Markers Initiative database. Using FreeSurfer, we compar

SUBMITTER: Ghatti S 

PROVIDER: S-EPMC10402751 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature