2025 American Academy of Neurology Abstract Website

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.