Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

ABSTRACT:

Objective

To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease.

Methods

We performed a comprehensive study of all GBA exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the GBA locus. Identified GBA variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls.

Results

Nine different GBA variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sam

SUBMITTER: Nichols WC 

PROVIDER: S-EPMC2677501 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature