Abstract Details

Title Higher Overall and DBS-Specific Genetic Variant Yield in the South Florida PD GENEration Cohort

Topic Movement Disorders

Presentation(s) P11 - Poster Session 11 (11:45 AM-12:45 PM)

Poster/Presentation
Number 16-015

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.

Authors/Disclosures
Priyanka Atit, DO PRESENTER	Dr. Atit has nothing to disclose.
Matthew Feldman, MD	Dr. Feldman has nothing to disclose.
Carlos Singer, MD (University of Miami)	Dr. Singer has nothing to disclose.
Ihtsham Haq, MD, FAAN (University of Miami Miller School of Medicine)	The institution of Dr. Haq has received research support from NINDS. The institution of Dr. Haq has received research support from the Parkinson's Foundation.
Corneliu C. Luca, MD (University of Miami)	Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Boston Scientific. Dr. Luca has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Signant Health. Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Abbott.
Danielle S. Shpiner, MD	An immediate family member of Dr. Shpiner has received personal compensation for serving as an employee of University of Miami. Dr. Shpiner has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Mission MSA. The institution of Dr. Shpiner has received research support from American Parkinson's Disease Association. The institution of Dr. Shpiner has received research support from CurePSP. The institution of Dr. Shpiner has received research support from Parkinson's Foundation. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Parkinson's Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Medtronic that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Boston Scientific that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbott that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbvie that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Ipsen that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Amneal that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Michael J. Fox Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a CoC Medical Director with CurePSP that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Mission MSA that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Merz that is relevant to AAN interests or activities.
Henry P. Moore, MD (University of Miami - Miller School of Medicine)	Dr. Moore has received personal compensation in the range of $0-$499 for serving as a Consultant for Abbvie. Dr. Moore has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ipsen Pharma. The institution of Dr. Moore has received research support from Sage Therapeutics. The institution of Dr. Moore has received research support from Bukwang Pharmaceutical. The institution of Dr. Moore has received research support from Neurocrine. The institution of Dr. Moore has received research support from CDHI Foundation. The institution of Dr. Moore has received research support from MODUS Outcomes LLC. The institution of Dr. Moore has received research support from University of Kansas Center for Research.
Jason H. Margolesky, MD, FAAN (University of Miami School of Medicine)	Dr. Margolesky has nothing to disclose.
Sarah Marmol, MD	Dr. Marmol has nothing to disclose.
Claudia Cano (University of Miami)	Claudia Cano has nothing to disclose.
Lucila Hernandez (University of Miami)	Lucila Hernandez has nothing to disclose.
Silvia Vargas Parra (University of Miami)	Silvia Vargas Parra has nothing to disclose.
Oriana Tarabay, MD	Mrs. Tarabay has nothing to disclose.

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