{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:19:24Z","timestamp":1792790364300,"version":"4.5.0"},"posted":{"date-parts":[[2026,9,22]]},"group-title":"Genetic and Genomic Medicine","reference-count":33,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"award":["1R01NS112499-01A1"],"award-info":[{"award-number":["1R01NS112499-01A1"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"award":["4R00HG012211-02"],"award-info":[{"award-number":["4R00HG012211-02"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Michael J. Fox Foundation","award":["MJFF-026283"],"award-info":[{"award-number":["MJFF-026283"]}],"id":[{"id":"https:\/\/ror.org\/03arq3225","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Parkinson's Foundation","award":["PDGENE-1333334"],"award-info":[{"award-number":["PDGENE-1333334"]}],"id":[{"id":"https:\/\/ror.org\/05mx85j86","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Alzheimer's Disease Sequencing Project","award":["5U01AG076482-03"],"award-info":[{"award-number":["5U01AG076482-03"]}]},{"name":"VA Puget Sound Health Care System","award":["5I01ABX005978-2"],"award-info":[{"award-number":["5I01ABX005978-2"]}],"id":[{"id":"https:\/\/ror.org\/00ky3az31","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Chan Zuckerberg Initiative","award":["CZIF2002-007045"],"award-info":[{"award-number":["CZIF2002-007045"]}],"id":[{"id":"https:\/\/ror.org\/02qenvm24","id-type":"ROR","asserted-by":"crossref"}]},{"name":"American Parkinson Disease Association","award":["1282087"],"award-info":[{"award-number":["1282087"]}],"id":[{"id":"https:\/\/ror.org\/04sedwh45","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Fulbright Colombia","id":[{"id":"https:\/\/ror.org\/01q2k1s41","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Ministry of Science, Technology and Innovation of Colombia","id":[{"id":"https:\/\/ror.org\/03fd5ne08","id-type":"ROR","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/03swz6y49","id-type":"ROR","asserted-by":"publisher"}]},{"id":[{"id":"https:\/\/ror.org\/03zj4c476","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,9,22]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Parkinson\u2019s 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.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Our 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).<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We 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.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    Of 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 Gaucher\u2019s disease, and 2.7% had known risk variants in\n                    <jats:italic>GBA1<\/jats:italic>\n                    .\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>By 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.<\/jats:p>\n                <\/jats:sec>","DOI":"10.64898\/2026.09.16.26359514","type":"posted-content","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T17:15:14Z","timestamp":1790097314000},"source":"Crossref","is-referenced-by-count":0,"title":["Genomic Landscape of Early-Onset and Familial Latin American Parkinson\u2019s Patients"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1485-3710","authenticated-orcid":false,"given":"Emily","family":"Waldo","sequence":"first","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1649-7854","authenticated-orcid":false,"given":"Henry Mauricio","family":"Chaparro-Solano","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"},{"name":"Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2387-5347","authenticated-orcid":false,"given":"Mariam","family":"Isayan","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5829-6452","authenticated-orcid":false,"given":"Thiago Peixoto","family":"Leal","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"},{"name":"Department of Public Health Education, Morehouse School of Medicine, Atlanta, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2665-1568","authenticated-orcid":false,"given":"Felipe","family":"Duarte-Zambrano","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Inca-Martinez","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5473-2146","authenticated-orcid":false,"given":"Janvi","family":"Ramchandra","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of California San Diego, La Jolla, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0862-5673","authenticated-orcid":false,"given":"Maria","family":"Rivera Paz","sequence":"additional","affiliation":[{"name":"Genomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic, Cleveland, United States of America"},{"name":"Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7978-1051","authenticated-orcid":false,"given":"Mary B.","family":"Makarious","sequence":"additional","affiliation":[{"name":"DataTecnica LLC, Washington, DC, United States of America"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6412-3777","authenticated-orcid":false,"given":"Carlos","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Centro de Gen\u00e9tica y Gen\u00f3mica, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1346-5443","authenticated-orcid":false,"given":"Emilia M","family":"Gatto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Gonzalez Rojas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin 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