Striatal and Extra-Striatal Cholinergic Terminal Density in LRRK2-PD Mutation
University of Michigan
Summary
This study explores how a specific genetic mutation of leucine-rich repeat kinase 2 (LRRK2) affects individuals with Parkinson's disease (PD), comparing those with the mutation to others with Parkinson's disease and without the mutation (iPD). Participants will complete positron emission tomography (PET) and magnetic resonance imaging (MRI) brain imaging, cognitive tests, motor tests, sensory tests, and questionnaires. The aims of this study are to compare brain chemicals in LRRK2 PD patients with iPD patients and to correlate brain chemicals with motor and cognitive tests in LRRK2 PD and iPD patients.
Description
LRRK2 mutations are among the most common genetic risk factors for Parkinson's Disease (PD), accounting for \~1% to 36% of familial cases depending on the ancestry, and a significant fraction of sporadic cases. These mutations are not fully penetrant, with 17-85% of carriers eventually developing PD. Among LRRK2-PD patients, clinical features manifest differently compared to idiopathic PD (iPD). LRRK2-PD patients often experience milder progression, with fewer non-motor symptoms and relatively preserved cognition, but higher likelihood of postural instability and gait difficulties (PIGD). This…
Eligibility
- Age range
- 45+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Male or Female, age 45 years and over. 2. Diagnosis of PD based on the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Research Criteria (Hughes et al., 1992). 3. Presence of LRRK2 mutation as confirmed by referral from UM Movement Disorders clinic, medical record review, or participation in the PDGENEration study. Exclusion Criteria: 1. Evidence of atypical parkinsonism. 2. Contra-indications to MR imaging including but not limited to pacemakers, aneurysm clips, intraocular metal, cochlear implant, or severe claustrophobia. 3. Evidence of large vesse…
Location
- University of MichiganAnn Arbor, Michigan