Icahn School of Medicine at Mount Sinai
Parkinson's disease (PD) is an age-related movement disorder with a complex pathophysiology. Among the risk factors for PD, variants in beta-glucocerebrosidase (encoded by the gene GBA1) represent one of the most significant heritable risk factors for lifetime PD risk. Biallelic variants in GBA1 cause Gaucher disease (GD), a multisystem disorder, and individuals with late/adult-onset GD1 have a \~1-in-9 lifetime risk for PD. This study aims to develop a cross-sectional cohort of clinical and laboratory phenotyped adult GD1 patients and controls for investigation of clinical/laboratory risk factors for current and future Parkinson risk. Neurological evaluations will be video and audio recorded to allow the investigators to quantify neurological function using automated tools. Data and specimens generated in this study will be incorporated into a de-identified biobank that will be used for further research into GD and PD.
Inclusion Criteria: * Subjects with a documentation of GBA1 phenotype * Subjects older than 40 years old * Either GD1 participants with or without PD * GBA1 heterozygotes with or without PD * Non-carrier controls without neurological disorder and no first-degree family relative with PD Exclusion Criteria: • Subjects with diminished mental capacity and unable to consent for themselves
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