Funded Studies
Objective/Rationale:
The objective of this award is to better understand the clinical symptoms of patients that carry the most common genetic risk factor for PD the LRRK2 G2019S variant and what role this mutation plays in individuals that were exposed to environmental toxicants.
A novel feature of this work is the investigation of the effect of a second significant genetic cause of Parkinson’s disease, which are mutations in a gene called glucocerebrosidase or GBA. A subgroup of individuals is carrying both genetic risk variants in the LRRK2 and GBA gene and we will establish if these patients have a unique clinical course that distinguishes them from other sporadic and genetic parkinsonism.
Project Description:
We will enroll individuals with LRRK2 and/or GBA variants and family members in our study and will assess several clinical measures such as neurological status, cognition, psychological status, sleep, autonomic symptoms, sense of smell, and color vision. We will also measure heart-rate variability and collected biological specimen. In addition, we will interview the participants about life-time and occupational exposures. All the data and collected specimen will be funneled into repositories and databases at the Coriell Institute for Medical Research in Camden, New Jersey and Rochester University in Rochester, New York. This collection will allow members of the international MJFF consortium to have access to the data and samples for scientific research and to understand these important genetic risk factors.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
The clinical recruitment and assessment of patient with LRRK2 associated genetic modifiers lays the foundation for better understanding of this important genetic subgroup of PD and this growing important clinical study population can be targeted once LRRK2 therapeutics are reaching the clinical arena.
Anticipated Outcome:
The short-term outcomes of this project are the clinical and exposure assessments and comparisons to discern LRRK2 parkinsonism in the Parkinson’s Institute’s cohort. The long-term outcome of this growing international consortium is the in-depth large-scale analysis of LRRK2 associated parkinsonism and to build an invaluable study population for urgently needed new therapies.