Objective:

To discuss PD GENEration participant demographic features and genetic variants in the South Florida area.

Background:

PD GENEration is an ongoing, multi-center study that tests for seven of the most common genes associated with Parkinson’s disease (PD). These include GBA, LRRK2, PRKN, SNCA, PINK1, PARK7, and VPS35. Current findings from PD GENEration are comprised of a primary non-Hispanic/Latino population (83%) vs 13% Hispanic/Latino, with a 12.9% yield of reportable variants.

Design/Methods:

Between January 2021 and August 2025, 730 patients from the University of Miami were screened for enrollment in PD GENEration.

Results:

A total of 730 patients were enrolled between January 2021 and August 2025. 467 (64%) were male, and 263 (36%) female. Of these patients, 49.7% were Hispanic or Latino and 47% were non-Hispanic/Latino, with the following demographics: 89.5% White, 3.3% Black or African American, 1.8% Asian, 1.8% more than one race, and 0.1% Pacific Islander. Race was either not reported or unknown in 3.5% of patients. There was no known family history in 61% of patients, and 9% of the enrollment group had undergone DBS. A total of 17.5% were carriers for genetic variants; 9.2% GBA, followed by LRRK2 in 5.4%, PRKN 2.3%, and VPS35 0.2%. Variants in more than one gene were identified in LRRK2 and PRKN (0.2%), and GBA and LRRK2 (0.2%). 82.3% had negative genetic testing. In the DBS sub-group, 26% had positive genetic testing: 4 with GBA, 3 LRRK2, 3 PRKN, and 1 with both GBA and LRRK2.

Conclusions:

Our South Florida cohort, predominantly Hispanic/Latino, contrasts with the broader North American PD GENEration demographics yet demonstrated similar frequencies of reportable genetic variants but a higher overall positivity rate (17.5 vs. 12.9%), with an even higher rate in our DBS population (26%). As in the broader cohort, GBA, LRRK2, and PRKN were the most common genetic mutations identified.