{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lorenzo-Betancor O"],"funding":["Aligning Science Across Parkinson's","Parkinson's Disease Foundation Stanley Fahn Junior Faculty Award","Clinical Center","FIC NIH HHS","Michael J. Fox Foundation for Parkinson's Research","Aligning Science Across Parkinson&apos;s","NINDS NIH HHS","American Parkinson Disease Association","Michael J. Fox Foundation for Parkinson&apos;s Research","CLC NIH HHS"],"pagination":["1843-1855"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11490405"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["39(10)"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Objectives</h4>Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America.<h4>Methods</h4>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 b"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Parkinson's Disease Gene Screening in Familial Cases from Central and South America."],"pmcid":["PMC11490405"],"funding_grant_id":["1R01NS112499-01A1","D43 TW009345","R01 NS112499","1R01NS112499‐01A1"],"pubmed_authors":["de Paula Brandao PR","Rivera AM","Gonzalez N","Yearout D","Franchello E","Pancetti F","Barbosa ER","Dos Santos Ghilardi MG","Vinuela A","Peralta MC","de Rosso ALZ","Lorenzo-Betancor O","Reyes P","Gutierrez N","Valle EO","Pinto ME","Merello M","de Oliveira Godeiro Junior C","Colombo A","Dieguez E","Mata IF","Vicioso RC","Cleves SCC","Gonzalez E","Inca-Martinez MA","Raggio V","Armas C","Bustos GA","Sarapura-Castro EH","Torres L","Dos Santos Lobato BL","Olguin P","Coletta MVD","Medina-Escobar A","Orozco-Velez JL","Rivera M","Miguel R","Perandones C","Lopez M","Neto PB","Mejia K","Waldo E","Gatto E","Torrealba G","Nuytemans K","Ferraz HB","Fernandez E","Tela M","Hernandez-Medrano AJ","Moreno S","Inca-Martinez M","Requejo F","Lescano A","Camargos S","Colon E","da Silva DJ","Mazzetti P","Capparelli F","Villa C","Borges V","Ayala R","Jimenez-Del-Rio M","Muller V","Rieder CRM","Fornaguera J","Mateus REP","Mumuney S","Wang L","Letro GH","Mehta S","Contreras AR","Hernandez A","Ramirez DM","Pellene A","Adamec D","Da Prat G","Falcone L","Del Rio MJ","Zabetian CP","Herrea IFC","Tumas V","Illanes M","Latin American Research Consortium on the Genetics of PD (LARGE‐PD)","Figueroa AL","Velez-Pardo C","Solano MC","Ramchandra J","Teive HAG","Rodriguez M","Cardoso FEC","Juan AS","Avila C","Martinez RD","Cosentino C","Alvarado G","Pinto JER","Marchetti C","Mori N","de Mello Rieder CR","Sobering A","Rodriguez S","Radrizzani M","Chana P","Saffie P","Ascencio T","Alcauter S","Chana-Cuevas P","Vasquez E","Cornejo-Olivas M","Munoz-Ospina B","Micheli F","Kauffman M","Montiel M","Lopera F","Pena S","Schumacher-Schuh AF","Medina A"],"additional_accession":[]},"is_claimable":false,"name":"Parkinson's Disease Gene Screening in Familial Cases from Central and South America.","description":"<h4>Background</h4>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.<h4>Objectives</h4>Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America.<h4>Methods</h4>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 b","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-06-04T00:12:01.648Z","creation":"2026-05-03T03:11:52.2Z"},"accession":"S-EPMC11490405","cross_references":{"pubmed":["39051491"],"doi":["10.1002/mds.29931"]}}