The GBA Multimodal Study in Parkinson's Disease

Summary

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.

Eligibility

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

Conditions4

Locations2 sites

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