{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:44:41Z","timestamp":1790369081351,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"Clinical Center","doi-asserted-by":"publisher","award":["1R01NS112499\u201001A1"],"award-info":[{"award-number":["1R01NS112499\u201001A1"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006309","name":"American Parkinson Disease Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006309","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018231","name":"Aligning Science Across Parkinson's","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018231","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,10]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n 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\u2010derived families, and little is known about their role in Latin American populations.<\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture\u2010sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We identified pathogenic variants in 41 individuals (12.7%) in\n FBXO7<\/jats:italic>\n ,\n GCH1<\/jats:italic>\n ,\n LRRK2<\/jats:italic>\n ,\n PARK7<\/jats:italic>\n ,\n PINK1<\/jats:italic>\n ,\n PLA2G6<\/jats:italic>\n ,\n PRKN<\/jats:italic>\n ,\n SNCA<\/jats:italic>\n , and\n TARDBP<\/jats:italic>\n ,\n GBA1<\/jats:italic>\n risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in\n ATP13A2<\/jats:italic>\n ,\n ATP1A3<\/jats:italic>\n ,\n DNAJC13<\/jats:italic>\n ,\n DNAJC6<\/jats:italic>\n ,\n GBA1<\/jats:italic>\n ,\n LRKK2<\/jats:italic>\n ,\n PINK1<\/jats:italic>\n ,\n VPS13C<\/jats:italic>\n , and\n VPS35<\/jats:italic>\n . Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n 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\u2010derived populations. \u00a9 2024 The Author(s).\n Movement Disorders<\/jats:italic>\n published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.29931","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T06:50:00Z","timestamp":1721890200000},"page":"1843-1855","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Parkinson's Disease Gene Screening in Familial Cases from Central and South America"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5607-8363","authenticated-orcid":false,"given":"Oswaldo","family":"Lorenzo\u2010Betancor","sequence":"first","affiliation":[{"name":"Veterans Affairs Puget Sound Health Care System Seattle Washington USA"},{"name":"Department of Neurology University of Washington School of Medicine Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seysha","family":"Mehta","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine, Case Western Reserve University Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janvi","family":"Ramchandra","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic Foundation Lerner Research Institute Cleveland Ohio USA"},{"name":"Department of Biochemistry Case Western Reserve University Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sekinat","family":"Mumuney","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine, Case Western Reserve University Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8722-0908","authenticated-orcid":false,"given":"Artur F.","family":"Schumacher\u2010Schuh","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"Department of Neurology Clinics Hospital of Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6313-5680","authenticated-orcid":false,"given":"Mario","family":"Cornejo\u2010Olivas","sequence":"additional","affiliation":[{"name":"Neurogenetics Working Group, Universidad Cient\u00edfica del Sur Lima Peru"},{"name":"Neurogenetics Research Center, National Institute of Neurological Sciences Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1562-3062","authenticated-orcid":false,"given":"Elison H.","family":"Sarapura\u2010Castro","sequence":"additional","affiliation":[{"name":"Neurogenetics Working Group, Universidad Cient\u00edfica del Sur Lima Peru"},{"name":"Neurogenetics Research Center, National Institute of Neurological Sciences Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Torres","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, National Institute of Neurological Sciences Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"Inca\u2010Martinez","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic Foundation Lerner Research Institute Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Mazzetti","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center, National Institute of Neurological Sciences Lima Peru"},{"name":"School of Medicine, Universidad Nacional Mayor de San Marcos Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3677-9856","authenticated-orcid":false,"given":"Carlos","family":"Cosentino","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, National Institute of Neurological Sciences Lima Peru"},{"name":"School of Medicine, Universidad Nacional Mayor de San Marcos Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Micheli","sequence":"additional","affiliation":[{"name":"Parkinson's Disease and Movement Disorders Center, University of Buenos Aires Buenos Aires Argentina"},{"name":"Centro de Parkinson y Movimientos Anormales, Fundaci\u00f3n San Gabriel C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitor","family":"Tumas","sequence":"additional","affiliation":[{"name":"Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo S\u00e3o Paulo 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Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Moreno","sequence":"additional","affiliation":[{"name":"Neuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia Medell\u00edn Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Lopera","sequence":"additional","affiliation":[{"name":"Neuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia Medell\u00edn Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge L.","family":"Orozco\u2010Velez","sequence":"additional","affiliation":[{"name":"Department of Neurology Valle del Lili Foundation Cali Colombia"},{"name":"Department of Human Sciences Icesi University Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Mu\u00f1oz\u2010Ospina","sequence":"additional","affiliation":[{"name":"Department of Neurology Valle del Lili Foundation Cali Colombia"},{"name":"Department of Human Sciences Icesi University Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.M.","family":"Rieder","sequence":"additional","affiliation":[{"name":"Departamento de Neurologia Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Medina\u2010Escobar","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidad Nacional Aut\u00f3noma de Honduras Tegucigalpa Honduras"},{"name":"The Moncton City Hospital Moncton New Brunswick Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Yearout","sequence":"additional","affiliation":[{"name":"Veterans Affairs Puget Sound Health Care System Seattle Washington USA"},{"name":"Department of Neurology University of Washington School of Medicine Seattle Washington 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