Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.

ABSTRACT:

Objective

Reduction in glucocerebrosidase (GCase; encoded by GBA) enzymatic activity has been linked to Parkinson's disease (PD). Here, we correlated GCase activity and PD phenotype in the Parkinson's Progression Markers Initiative (PPMI) cohort.

Methods

We measured GCase activity in dried blood spots from 1559 samples of participants in the inception PPMI cohort, collected in four annual visits (from baseline visit to Year-3). Participants (PD, n = 392; controls, n = 175) were fully sequenced for GBA variants by means of genome-wide genotyping arrays, whole-exome sequencing, whole-genome sequencing, Sanger sequencing, and RNA-sequencing.

Results

Fifty-two PD participants (13.4%) and 13 (7.4%) controls carried a GBA variant. GBA status was strongly associated with GCa

SUBMITTER: Alcalay RN 

PROVIDER: S-EPMC7545591 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature