Year: 2024
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. METHODS: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture-sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. CONCLUSIONS: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European-derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Source: Movement Disorders
DOI: 10.1002/mds.29931
Authors: Oswaldo Lorenzo‐Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur F. Schumacher‐Schuh, Mario Cornejo‐Olivas, Elison H. Sarapura‐Castro, Luis Torres, Miguel A. Inca‐Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Vitor Tumas, Elena Dieguez, Victor Raggio, Vanderci Borges, Henrique B. Ferraz, Pedro Chana‐Cuevas, Marlene Jimenez‐Del‐Rio, Carlos Velez‐Pardo, Sonia Moreno, Francisco Lopera, Jorge L. Orozco‐Velez, Beatriz Muñoz‐Ospina, Carlos R.M. Rieder, Alex Medina‐Escobar, Dora Yearout, Cyrus P. Zabetian, Ignacio F. Mata
Institutions: University of Washington, VA Puget Sound Health Care System, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland Clinic, Cleveland Clinic Research, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Universidad Científica del Sur, Instituto Nacional de Ciencias Neurológicas, National University of San Marcos, Universidad de Buenos Aires, Universidade de São Paulo, Universidad de la República de Uruguay, Universidade Federal de São Paulo, Universidad de Santiago de Chile, Universidad de Antioquia, Fundación Valle del Lili, Universidad Icesi, Universidade Federal de Ciências da Saúde de Porto Alegre, National Autonomous University of Honduras, Moncton Hospital
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,270
Funders: U.S. Department of Veterans Affairs, Michael J. Fox Foundation for Parkinson's Research, Parkinson's Disease Foundation, American Parkinson Disease Association, Parkinson's Foundation, Aligning Science Across Parkinson’s, National Institutes of Health, Fogarty International Center, National Institute of Neurological Disorders and Stroke, NIH Clinical Center
OpenAlex ID: W4400984468