Common variant rs356182 near SNCA defines a Parkinson's disease endophenotype.

ABSTRACT:

Objective

Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression.

Methods

We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients. SNPs associated with motor phenotype in both cross-sectional cohorts were next evaluated for association with (1) rates of motor progression in a longitudinal subgroup of 230 PD patients and (2) brain a

SUBMITTER: Cooper CA 

PROVIDER: S-EPMC5221454 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature