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Genetic characterization of Parkinsons Disease in a Chilean cohort

Saffie-Awad, P.; Wild Crea, P.; Grant, S. M.; Lee, P. S.; Peixoto Leal, T.; Teixeira-dos-Santos, D.; Akcimen, F.; Khani, M.; Waldo, E.; Pizarro-Correa, X.; Solis, E.; Blauwendraat, C.; Singleton, A.; Klein, C.; Bandres Ciga, S.; Mata, I.; Inca-Martinez, M.; Schumacher-Schuh, A. F.; Chana-Cuevas, P.

2026-08-06 genetic and genomic medicine
10.64898/2026.08.04.26358901 medRxiv
Show abstract

The genetics of Parkinsons 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.

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"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.