{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:16:13Z","timestamp":1788837373838,"version":"build-2803163510"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T00:00:00Z","timestamp":1764633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institutes of Health, Department of Health and Human Services","doi-asserted-by":"publisher","award":["Z01-AG000949"],"award-info":[{"award-number":["Z01-AG000949"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institutes of Health, Department of Health and Human Services","doi-asserted-by":"publisher","award":["1ZIANS003154"],"award-info":[{"award-number":["1ZIANS003154"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH HPC Biowulf cluster"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson\u2019s disease. Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1 can contribute to atypical or familial forms of Parkinson\u2019s disease, we investigated whether FGF14 expansions might play a similar role.<\/jats:p>\n                  <jats:p>Using long-read whole-genome sequencing, we analysed 411 individuals with Parkinson\u2019s disease and 197 neurologically healthy controls from the Parkinson\u2019s Progression Markers Initiative (PPMI) cohort, together with 1429 additional controls from the National Institutes of Health (NIH) Center for Alzheimer\u2019s Disease and Related Dementias (CARD) initiative, the 1000 Genomes Project, and the All of Us program, representing globally diverse populations.<\/jats:p>\n                  <jats:p>We identified pathogenic FGF14 GAA repeat expansions in five individuals with Parkinson\u2019s disease and one control subject. All five individuals fit the clinical criteria of Parkinson\u2019s disease and showed typical patterns of neurodegeneration on DaTSCAN imaging; \u03b1-synuclein aggregation was confirmed by a positive seeding assay among four individuals with available data. These findings broaden the phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare, previously unrecognized genetic contributor to Parkinson\u2019s disease.<\/jats:p>\n                  <jats:p>To our knowledge, this is the first report implicating FGF14 in Parkinson\u2019s disease and underscores the utility of long-read sequencing for detecting hidden forms of pathogenic variation in unresolved cases.<\/jats:p>","DOI":"10.1093\/brain\/awaf456","type":"journal-article","created":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T12:55:35Z","timestamp":1764420935000},"page":"1514-1521","source":"Crossref","is-referenced-by-count":3,"title":["Long-read sequencing identifies\n                    <i>FGF14<\/i>\n                    repeat expansions in Parkinson\u2019s disease"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0931-5247","authenticated-orcid":false,"given":"Fulya","family":"Ak\u00e7imen","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kensuke","family":"Daida","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-9821","authenticated-orcid":false,"given":"Lara M","family":"Lange","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham","family":"Moller","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Miano-Burkhardt","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laksh","family":"Malik","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Paquette","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Alvarez Jerez","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackson","family":"Mingle","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breeana","family":"Baker","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Meredith","sequence":"additional","affiliation":[{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric","family":"Kouam","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders 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Physics, Northeastern University , Boston, MA 02120 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5395-1457","authenticated-orcid":false,"given":"Mark","family":"Chaisson","sequence":"additional","affiliation":[{"name":"Department of Quantitative and Computational Biology, University of Southern California , Los Angeles, CA 90089 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1058-3831","authenticated-orcid":false,"given":"Mark","family":"Cookson","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradford","family":"Casey","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, The Michael J. Fox Foundation for Parkinson\u2019s Research , New York, NY 10163 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8982-7885","authenticated-orcid":false,"given":"Hirotaka","family":"Iwaki","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bandres-Ciga","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 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