The GBA Multimodal Study in Parkinson's Disease

Description

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.

Conditions

Parkinson Disease, GBA Gene Mutation, Gaucher Disease

Study Overview

Study Details

Study overview

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.

Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers

The GBA Multimodal Study in Parkinson's Disease

Condition
Parkinson Disease
Intervention / Treatment

-

Contacts and Locations

Portland

Oregon Health & Science University, Portland, Oregon, United States, 97239

Seattle

University of Washington, Seattle, Washington, United States, 98108-1595

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;
  • * age 18 to 80 years.
  • * 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

Ages Eligible for Study

18 Years to 80 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Pacific Parkinson's Research Centre,

Michele Matarazzo, MD, PRINCIPAL_INVESTIGATOR, Pacific Parkinson's Research Centre | University of British Columbia

A. Jon Stoessl, CM, MD, FRCPC, FCAHS, PRINCIPAL_INVESTIGATOR, Pacific Parkinson's Research Centre | University of British Columbia

Study Record Dates

2025-12-30