Abstract Details

Title Ethnic and Genetic Differences in Parkinson’s Disease: A Study of Hispanic and Non-Hispanic Mutation Carriers in a 79-subject Cohort

Topic Movement Disorders

Presentation(s) P3 - Poster Session 3 (11:45 AM-12:45 PM)

Poster/Presentation
Number 5-012

Objective

To characterize motor and non-motor symptoms in Hispanic and non-Hispanic PD patients with PRKN, GBA, LRRK2, and other mutations.

Background

Parkinson's disease (PD) shows diverse clinical manifestations influenced by genetic and other factors, with Hispanics often underrepresented in genetic studies.

Design/Methods

A retrospective analysis was conducted on 458 PD patients, of whom 79(17.3%) carried pathogenic mutations. The sample included 36 Hispanic(45.6%) and 43 non-Hispanic (54.4%) patients. Clinical data included age of onset, disease duration, cognitive profiles, psychiatric symptoms, family history of PD (FH).

Results

PRKN: Hispanics(n=8) had an average age of onset of 50.8 years vs 50.3 years for non-Hispanics(n=3). Mean disease duration was 12.1 years for Hispanics and 13.3 years for non-Hispanics. Mild cognitive impairment (MCI) was noted in 2.5% of Hispanics, none in non-Hispanics. Psychiatric symptoms, including anxiety and depression, were reported in 3.8% of Hispanics and 1.3% of non-Hispanics. Positive FH was reported in 3.8% of Hispanics vs 1.3% of non-Hispanics.

LRRK2: The mean age of onset for Hispanics(n=14) was 61.1 years compared to 64.4 years for non-Hispanics(n=14). Disease duration was 7.71 years for Hispanics and 7.86 years for non-Hispanics. MCI affected 3.8% of Hispanics and 5.1% of non-Hispanics. Positive FH was reported in 10.1% of Hispanics vs 12.7% of non-Hispanics.

GBA: Hispanics(n=13) showed earlier onset at 53.4 years compared to 61.0 years in non-Hispanics(n=23). Mean disease duration was 6.08 years for Hispanics and 7.96 years for non-Hispanics. MCI affected 2.5% of Hispanics and 11.4% of non-Hispanics. Positive FH was found in 3.8% of Hispanics vs 16.5% of non-Hispanics.

Other mutations seen in the cohort included VPS35(n=1), GBA-LRRK2(n=1), LRKK2-PRKN(n=1), PRKN-GBA(n=1)

Conclusions

This study provides insights into clinical differences between Hispanic and non-Hispanic PD patients with specific genetic mutations. The sample size limits conclusions, highlighting the need for broader studies in underrepresented populations.

Authors/Disclosures
Claire Alcus PRESENTER	Miss Alcus has nothing to disclose.
Viviana Torres Ballesteros, Other	Ms. Torres Ballesteros has nothing to disclose.
Matthew Feldman, MD	Dr. Feldman has nothing to disclose.
Lucila Hernandez (University of Miami)	Lucila Hernandez has nothing to disclose.
Marina Sarno, Other (University of Miami Department of Neurology)	Dr. Sarno has nothing to disclose.
Aidan T. Kunju (University of Miami Miller School of Medicine)	Mr. Kunju 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.

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