Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

ABSTRACT:

Objective

We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates.

Methods

A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median, 4.1) from seven cohorts were analyzed. Differential effects of four types of genetic variation in GBA on longitudinal cognitive decline were evaluated using mixed random and fixed effects and Cox proportional hazards models.

Results

Overall, 10.3% of patients with PD and GBA sequencing carried a mutation. Carriers of neuropathic GD mutations (1.4% of patients) h

SUBMITTER: Liu G 

PROVIDER: S-EPMC5244667 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature