Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype.

ABSTRACT:

Objective

To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease alters the cortical control of sequential finger movements.

Methods

Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI). During fMRI, participants performed simple sequences of three thumb-to-finger opposition movements with their right dominant hand. Since heterozygous Parkin and PINK1 mutations cause a latent dopaminergic nigr

SUBMITTER: van Nuenen BF 

PROVIDER: S-EPMC2821837 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature