{
  "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.\n\nObjectivesOur 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).\n\nMethodsWe 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.\n\nResultsOf 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.\n\nConclusionsBy 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.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 38,
  "authors": [
    {
      "name": "E. Waldo"
    },
    {
      "name": "H. M. Chaparro-Solano"
    },
    {
      "name": "M. Isayan"
    },
    {
      "name": "T. P. Leal"
    },
    {
      "name": "F. Duarte-Zambrano"
    },
    {
      "name": "M. Inca-Martinez"
    },
    {
      "name": "J. Ramchandra"
    },
    {
      "name": "M. Rivera Paz"
    },
    {
      "name": "M. Makarious"
    },
    {
      "name": "C. F. Hernandez"
    },
    {
      "name": "E. M. Gatto"
    },
    {
      "name": "N. Gonzalez Rojas"
    },
    {
      "name": "M. Cesarini"
    },
    {
      "name": "B. L. Santos-Lobato"
    },
    {
      "name": "G. H. Letro"
    },
    {
      "name": "J. L. Orozco"
    },
    {
      "name": "B. Munoz Ospina"
    },
    {
      "name": "P. Chana-Cuevas"
    },
    {
      "name": "N. A. Rojas"
    },
    {
      "name": "D. Aguillon"
    },
    {
      "name": "V. Muller"
    },
    {
      "name": "P. Braga-Neto"
    },
    {
      "name": "M. Rodriguez-Violante"
    },
    {
      "name": "A. Cervantes-Arriaga"
    },
    {
      "name": "A. Schuh"
    },
    {
      "name": "M. Cornejo-Olivas"
    },
    {
      "name": "K. Mejia Rojas"
    },
    {
      "name": "C. Armas"
    },
    {
      "name": "A. Vinuela"
    },
    {
      "name": "A. O. Espinal Martinez"
    },
    {
      "name": "V. Tumas"
    },
    {
      "name": "V. Borges"
    },
    {
      "name": "C. L. Avila"
    },
    {
      "name": "P. Olguin"
    },
    {
      "name": "S. Alcauter"
    },
    {
      "name": "M. Kauffman"
    },
    {
      "name": "D. Gonzalez-Moron"
    },
    {
      "name": "Pen"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/92cgmbdv7ep5n.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.09.16.26359514",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1.full",
  "id": "92cgmbdv7ep5n",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1",
  "language": null,
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "genetic and genomic medicine"
    ],
    [
      "openalex",
      "2728|Parkinson's Disease Mechanisms and Treatments"
    ]
  ],
  "openalex": "W7214028259",
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-16",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/92cgmbdv7ep5n.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:09Z",
      "native_id": "10.64898/2026.09.16.26359514",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.09.16.26359514v1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "medrxiv:genetic and genomic medicine",
      "subfield": "human-genetics"
    }
  ],
  "title": "Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients",
  "title_text": "Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients",
  "type": "preprint",
  "updated_at": "2026-10-30T12:19:09Z",
  "url": "https://research.draconitic.com/paper/92cgmbdv7ep5n",
  "venue": "medRxiv",
  "versions": []
}