Objective: To characterize clinical and genetic features of  Parkinson’s disease (PD)  in El Salvador in the PD GENEration and LARGE-PD.

Background: Central American populations remain markedly underrepresented in PD genetic research. The PD GENEration initiative provides whole-genome sequencing (WGS) with structured return of results and genetic counseling by trained personnel, enabling comprehensive genomic characterization within regional research frameworks.

Method: We conducted descriptive analysis of patients enrolled in the LARGE-PD / PD GENEration project in El Salvador. Demographic and clinical variables, including age at onset, were analyzed. Genetic testing was performed using WGS with targeted analysis of seven PD-associated genes (GBA1, LRRK2, SNCA, PRKN, PARK7, VPS35, PINK1).

Results: The cohort included 84 patients (60.7% male). Mean current age was 66.2±11.7 years and mean age at onset was 58.3±13.3 years. Twenty patients (23.8%) had onset before age 50. Genetic results are available for 76 individuals; 8 remain pending. Nine patients (10.7%) reported family history of PD. Pathogenic variants were identified in 4 patients (5.3% of completed tests): one heterozygous LRRK2 variant, two heterozygous GBA1 variants, and one compound heterozygous PRKN case consistent with autosomal recessive inheritance.

Conclusion: Although the overall frequency of pathogenic variants in this Salvadoran cohort appears lower than that reported in broader PD GENEration datasets and some LARGE-PD series, the distribution of identified genes remains consistent with the established genetic architecture of Parkinson’s disease in Latin American and international cohorts. These findings highlight the importance of expanding neurogenetic research in underrepresented Central American populations to reduce global disparities and strengthen regional genomic representation.

References: 1. Schumacher-Schuh AF, Bieger A, Okunoye O, et al. Underrepresented Populations in Parkinson’s Genetics Research: Current Landscape and Future Directions. Mov Disord. 2022;37(8):1593-1604.
2. Cornejo-Olivas M, Torres L, Velit-Salazar MR, et al. Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry. NPJ Parkinsons Dis. 2017;3:19.
3. Lorenzo-Betancor O, Mehta S, Ramchandra J, et al. Parkinson’s Disease Gene Screening in Familial Cases from Central and South America. Mov Disord. 2024;39(10):1843-1855.
4. Velez-Pardo C, Lorenzo-Betancor O, Jimenez-Del-Rio M, et al. The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru. Parkinsonism Relat Disord. 2019;63:204-208.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genomic-insights-into-parkinsons-disease-large-pd-and-pd-generation-collaboration-in-el-salvador/