Year: 2026
Type: preprint
Study design: Observational Study
Abstract: ABSTRACT The genetics of Parkinson’s disease (PD) in underrepresented populations remain poorly characterized, potentially overlooking population-specific contributions. We analyzed 461 Chilean PD cases from a movement disorders center. Pathogenic, likely pathogenic, or GBA1 risk variants were identified in 58 individuals (12.6%), mainly in LRRK2 (50%) and GBA1 (44.8%), while PRKN, SNCA , and SQSTM1 collectively represented 5.2%. All LRRK2 variants were p.G2019S, with an overall frequency of 6.3%, the highest reported in South America, and enrichment of Ashkenazi Jewish ancestry at this locus. These findings characterize the genetic landscape of PD in Chile and support its relevance for LRRK2 -targeted studies.
Source: medRxiv
Authors: Paula Saffie-Awad, Peter Wild Crea, Spencer Grant, Paul Suhwan Lee, Thiago Peixoto Leal, Daniel Teixeira-dos-Santos, Fulya Akçimen, Marzieh Khani, Emily Waldo, Ximena Pizarro-Correa, Ernesto Solís-Añez, Cornelis Blauwendraat, Andrew Singleton, Christine Klein, Sara Bandres-Ciga, Ignacio Fernandez Mata, Miguel Inca-Martínez, Artur F. Schumacher Schuh, Pedro Chaná-Cuevas
Institutions: University of Concepción, Clinica Santa Maria, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute on Aging, University of Cambridge, Cleveland Clinic, Cleveland Clinic Research, Morehouse School of Medicine, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Universidad de Los Andes, Chile, Universidad de Talca, Coalition for Aligning Science, University of Lübeck, Universidad de Santiago de Chile
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7196967917