Pacific Parkinson's Research Centre
This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessment to study the typing patterns as possible biomarkers of early motor dysfunctions.
Study Rationale: People who have a mutation in the GBA gene have a higher risk of developing Parkinson's disease (PD) and, if they have PD, are more likely to have cognitive decline and dementia. Cognitive problems in people with PD is related to dysfunction of the brain chemical acetylcholine and likely to the accumulation of the tau protein in the brain. Another observation in previous studies is that analyzing the patterns of typing into a computer can help differentiate healthy people from people with PD. Hypothesis: The investigators hypothesize that people with GBA-related PD will have…
Inclusion Criteria: * heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism; * age 18 to 80 years. Exclusion Criteria: * co-occurrence of other neurological disorders; * implants that contraindicate the MRI scanning (e.g. cardiac pacemaker, ferromagnetic implants or devices); * severe claustrophobia; * intolerance to antiparkinsonian drug withdrawal (for GBA-PD subjects); * ongoing treatment with cholinergic drugs
3 PET scans to analyze the dopamine metabolism, acetylcholine and tau protein deposition in the brain.
Analysis of free-text typing in a computer and/or a touch-screen device.
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