{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:26:09Z","timestamp":1790126769209,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T00:00:00Z","timestamp":1693094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015496","name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015496","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"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\/100013128","name":"Multiple System Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012317","name":"UCLH Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (<jats:italic>FGF14<\/jats:italic>) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late\u2010onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We screened these 64 patients for the <jats:italic>FGF14<\/jats:italic> GAA repeat expansion. We next analysed the frequency of SCA27B relative to other genetically defined forms of LOCA in the cohort of 107 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighteen of 64 patients (28%) carried an <jats:italic>FGF14<\/jats:italic> (GAA)<jats:sub>\u2265250<\/jats:sub> expansion. The median (range) age at onset was 62.5 (39\u201372) years. The most common clinical features included gait ataxia (100%) and mild cerebellar dysarthria (67%). In addition, episodic symptoms and downbeat nystagmus were present in 39% (7\/18) and 37% (6\/16) of patients, respectively. SCA27B was the most common cause of LOCA in our cohort (17%, 18\/107). Among patients with genetically defined LOCA, SCA27B was the main cause of pure ataxia, <jats:italic>RFC1<\/jats:italic>\u2010related disease of ataxia with neuropathy, and <jats:italic>SPG7<\/jats:italic> of ataxia with spasticity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of <jats:italic>FGF14<\/jats:italic> GAA repeat expansion screening as a first\u2010tier genetic test in patients with LOCA.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16039","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T12:24:40Z","timestamp":1692015880000},"page":"3828-3833","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B<\/scp> and other genetic ataxias in a Spanish cohort of late\u2010onset cerebellar ataxia"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0331-6222","authenticated-orcid":false,"given":"Pablo","family":"Iruzubieta","sequence":"first","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"},{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology London and The National Hospital for Neurology and Neurosurgery University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology London and The National Hospital for Neurology and Neurosurgery University College London  London UK"},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Bergareche","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s","family":"Albajar","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabet","family":"Mondrag\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vinagre","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Fern\u00e1ndez\u2010Torr\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferm\u00edn","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0984-2645","authenticated-orcid":false,"given":"Jon","family":"Equiza","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4143-0210","authenticated-orcid":false,"given":"David","family":"Campo\u2010Caballero","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Jos\u00e9","family":"Poza","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Ruibal","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Formica","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C.","family":"Danzi","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana","family":"Croitoru","sequence":"additional","affiliation":[{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL)  Barcelona Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatha","family":"Schl\u00fcter","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL)  Barcelona Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1170-2676","authenticated-orcid":false,"given":"Carlos","family":"Casasnovas","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL)  Barcelona Spain"},{"name":"Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Pujol","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL)  Barcelona Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Catalan Institution of Research and Advanced Studies (ICREA)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology London and The National Hospital for Neurology and Neurosurgery University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"L\u00f3pez\u00a0de\u00a0Munain","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Ruiz\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Department of Neurology Donostia University Hospital, Biodonostia Health Research Institute  Donostia\u2010San Sebasti\u00e1n Spain"},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas\u2010Instituto de Salud Carlos III (CIBER\u2010CIBERNED\u2010ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90104-0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26382"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-314863"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nrl.2021.01.006"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2207406"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.015"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324625.00404.15"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-36654-8"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000149522.32823.EA"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29560"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29559"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad157"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2023-331490"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11868-y"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16039","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T12:05:56Z","timestamp":1709035556000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,27]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1111\/ene.16039"],"URL":"https:\/\/doi.org\/10.1111\/ene.16039","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,27]]},"assertion":[{"value":"2023-06-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}