Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients
Abstract
BackgroundParkinsons disease (PD), the most common neurodegenerative movement disorder, is commonly thought of as an aging and sporadic disease; however, 5-14% of individuals experience disease onset before the age of 50 years (early-onset PD; EOPD) and about 20% have a positive family history. In the case of both EOPD and people with a family history of PD, evidence suggests higher rates of a disease-causing genetic contribution.
ObjectivesOur goal was to perform a variant screening of seven PD-related genes and 21 genes associated with related parkinsonian disorders to identify pathogenic/likely pathogenic variants and variants of uncertain significance within EOPD and family-history-positive individuals within the Latin American Research Consortium on the Genetics of PD (LARGE-PD).
MethodsWe performed short-read whole-genome sequencing on a subset of 263 individuals with EOPD and/or a familial history of PD who had no known pathogenic PD variant in genotyping data.
ResultsOf the analyzed individuals, a monogenic burden in primary and secondary PD genes due to pathogenic or likely pathogenic variants for PD was observed in 4.7%, an additional 5.5% had pathogenic or likely pathogenic variants for Gauchers disease, and 2.7% had known risk variants in GBA1.
ConclusionsBy expanding the reported spectrum of disease-associated variants in a Latin American population, we identified previously unreported or underrepresented variants that would likely be missed by array-based or targeted screening approaches and contribute to the characterization of EOPD and familial PD in Latin America.
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BibTeX
@misc{waldo2026genomic,
title = {{Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients}},
author = {E. Waldo and H. M. Chaparro-Solano and M. Isayan and T. P. Leal and F. Duarte-Zambrano and M. Inca-Martinez and J. Ramchandra and M. Rivera Paz and M. Makarious and C. F. Hernandez and E. M. Gatto and N. Gonzalez Rojas and M. Cesarini and B. L. Santos-Lobato and G. H. Letro and J. L. Orozco and B. Munoz Ospina and P. Chana-Cuevas and N. A. Rojas and D. Aguillon and V. Muller and P. Braga-Neto and M. Rodriguez-Violante and A. Cervantes-Arriaga and A. Schuh and M. Cornejo-Olivas and K. Mejia Rojas and C. Armas and A. Vinuela and A. O. Espinal Martinez and V. Tumas and V. Borges and C. L. Avila and P. Olguin and S. Alcauter and M. Kauffman and D. Gonzalez-Moron and Pen},
howpublished = {medRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.16.26359514},
url = {https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1},
note = {CC BY},
}
RIS
TY - UNPB
TI - Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients
AU - E. Waldo
AU - H. M. Chaparro-Solano
AU - M. Isayan
AU - T. P. Leal
AU - F. Duarte-Zambrano
AU - M. Inca-Martinez
AU - J. Ramchandra
AU - M. Rivera Paz
AU - M. Makarious
AU - C. F. Hernandez
AU - E. M. Gatto
AU - N. Gonzalez Rojas
AU - M. Cesarini
AU - B. L. Santos-Lobato
AU - G. H. Letro
AU - J. L. Orozco
AU - B. Munoz Ospina
AU - P. Chana-Cuevas
AU - N. A. Rojas
AU - D. Aguillon
AU - V. Muller
AU - P. Braga-Neto
AU - M. Rodriguez-Violante
AU - A. Cervantes-Arriaga
AU - A. Schuh
AU - M. Cornejo-Olivas
AU - K. Mejia Rojas
AU - C. Armas
AU - A. Vinuela
AU - A. O. Espinal Martinez
AU - V. Tumas
AU - V. Borges
AU - C. L. Avila
AU - P. Olguin
AU - S. Alcauter
AU - M. Kauffman
AU - D. Gonzalez-Moron
AU - Pen
PY - 2026
DA - 2026/09/16
PB - medRxiv
DO - 10.64898/2026.09.16.26359514
UR - https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1
AB - BackgroundParkinsons disease (PD), the most common neurodegenerative movement disorder, is commonly thought of as an aging and sporadic disease; however, 5-14% of individuals experience disease onset before the age of 50 years (early-onset PD; EOPD) and about 20% have a positive family history. In the case of both EOPD and people with a family history of PD, evidence suggests higher rates of a disease-causing genetic contribution. ObjectivesOur goal was to perform a variant screening of seven PD-related genes and 21 genes associated with related parkinsonian disorders to identify pathogenic/likely pathogenic variants and variants of uncertain significance within EOPD and family-history-positive individuals within the Latin American Research Consortium on the Genetics of PD (LARGE-PD). MethodsWe performed short-read whole-genome sequencing on a subset of 263 individuals with EOPD and/or a familial history of PD who had no known pathogenic PD variant in genotyping data. ResultsOf the analyzed individuals, a monogenic burden in primary and secondary PD genes due to pathogenic or likely pathogenic variants for PD was observed in 4.7%, an additional 5.5% had pathogenic or likely pathogenic variants for Gauchers disease, and 2.7% had known risk variants in GBA1. ConclusionsBy expanding the reported spectrum of disease-associated variants in a Latin American population, we identified previously unreported or underrepresented variants that would likely be missed by array-based or targeted screening approaches and contribute to the characterization of EOPD and familial PD in Latin America.
ER -