Category: Parkinson's Disease: Genetics
Objective: To conduct a demographic, phenotypic, and genotypic characterization of Parkinson’s disease (PD) patients in northwest Argentina.
Background: Despite PD’s widespread nature, most genetic studies focus on European populations, with Latinos contributing only 1.6% to the GP2 dataset. The LARGE-PD consortium aims to address this disparity by recruiting Latin American patients to enhance understanding of PD heterogeneity and improve diagnostics and treatments.
Method: Between September 2022 and October 2024, PD patients and controls visiting Hospital Angel C. Padilla in Tucumán were enrolled. Blood samples were collected, and the LARGE-PD questionnaire was administered. Genotyping was performed using the NeuroBooster array, with bioinformatic analysis conducted by the Mata Lab at Cleveland Clinic.
Results: Sixty-eight patients and 14 controls were enrolled, with 40% being female. The mean age at onset was 55 years, and 50% presented with early-onset PD. Ancestry analysis revealed 40% mixed, 20% Amerindian, and less than 30% European ancestry. Clinically, 50% of patients had postural instability, and 87% presented with resting tremor. Most patients (95%) were treated with levodopa, with 40% experiencing severe levodopa-induced chorea. Family history of PD was reported by 30% of patients. Preliminary genotyping of 13 patients identified nonsynonymous mutations in GBA, LRRK2, SYNJ1, and POLG genes in 23% of patients.
Conclusion: Conclusions: These preliminary findings highlight genetic mutations associated with PD in a significant proportion of patients. The high degree of admixture in this region may help bridge the diversity gap in genetic data for Latino populations.
References: “Genotypic and phenotypic characterization of the population living with Parkinson disease in the northwest region of Argentina”, 1st LARGE-PD Annual Investigator Meeting, Octubre 2024, Lima, Peru.
To cite this abstract in AMA style:
C. Avila, G. Alvarado, L. Rojas-Vazquez, J. Diaz-Rearte, E. Franchello. Genotypic and phenotypic characterization of the population living with Parkinson disease in the northwest region of Argentina [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/genotypic-and-phenotypic-characterization-of-the-population-living-with-parkinson-disease-in-the-northwest-region-of-argentina/. Accessed October 5, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/genotypic-and-phenotypic-characterization-of-the-population-living-with-parkinson-disease-in-the-northwest-region-of-argentina/