Genetic Epidemiology of Parkinson's Disease

PROJECT SUMMARY/ABSTRACT The goal of this proposal is to define the signature phenotypic profiles of the two most common genetically defined forms of early onset Parkinson[unreadable]s Disease (PD), parkin (Park2) and glucocerebrosidase (GBA), cross-sectionally (Aim 1), longitudinally (Aim 2), and before motor manifestations that define PD occur (Aim 3). We will recruit 75 PD probands who carry parkin mutations, 100 PD probands who carry GBA mutations, and 100 noncarrier (idiopathic PD) probands and their first-degree relatives (3 per family). The majority of these families have participated in the Consortium on Risk for Early Onset PD (CORE PD) study, which has enrolled 1062 PD probands with age at onset (AAO)