Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation

Parkinson s disease is a common neurological condition that was originally thought to develop from environmental factors. More recently, genetic factors have been implicated. In this study, we are interested in studying the phenotypic presentation of patients with Parkinson s disease due to a specific defect in a gene called the Leucine rich repeat kinase 2 gene (LRRK2) found in some patients with Parkinson s disease. In addition, we plan to study family members whose genetic status is unknown to develop a pre-clinical description of Parkinson s disease progression. OBJECTIVE: 1. To develop a pre-clinical description in first-degree family members of patients with Parkinson s disease who have the LRRK2 mutation. The first-degree relative may or may not carry the LRRK2 mutation. 2. To phenotypically characterize Parkinson s disease patients who have the LRRK2 mutation. STUDY POPULATION: 200 adult subjects including: 1. Patients with a diagnosis of PD due to LRRK2 mutation 2. First degree family members of patients with PD who have the LRRK2 mutation. DESIGN: This will be a longitudinal prospective natural history study. OUTCOME MEASURES: 1. Pre-clinical signs of disease in first degree relatives of Parkinson s disease patients who have the LRRK2 mutation. 2. Characterization of a pre-clinical phenotype in first degree relatives of LRRK2 positive Parkinson s disease patients. 3. Progression of Parkinson s disease patients who have the LRRK2 mutation. 4. Genotypic characterization of first-degree relatives 5. RNA expression profile determination comparing mutation carriers to non-mutation carriers in search for early biomarkers