{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T19:08:17Z","timestamp":1792696097120,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T00:00:00Z","timestamp":1689811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Heterozygous GAA expansions in the\n                      <jats:italic>FGF14<\/jats:italic>\n                      gene have been related to autosomal dominant cerebellar ataxia (SCA27B\u2010MIM:620174). Whether they represent a common cause of sporadic late\u2010onset cerebellar ataxia (SLOCA) remains to be established.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features, and model longitudinal progression of SCA27B in a prospective cohort of SLOCA patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansions screening combined with longitudinal deep\u2010phenotyping in a prospective cohort of 118 SLOCA patients (onset &gt;40\u2009years of age, no family history of cerebellar ataxia) without a definite diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prevalence of SCA27B was 12.7% (15\/118). Higher age of onset, higher Spinocerebellar Degeneration Functional Score, presence of vertigo, diplopia, nystagmus, orthostatic hypotension absence, and sensorimotor neuropathy were significantly associated with SCA27B. Ataxia progression was \u22480.4 points per year on the Scale for Assessment and Rating of Ataxia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansion is a major cause of SLOCA. Our natural history data will inform future\n                      <jats:italic>FGF14<\/jats:italic>\n                      clinical trials. \u00a9 2023 The Authors.\n                      <jats:italic>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.29560","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T06:00:55Z","timestamp":1689832855000},"page":"1950-1956","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Natural History and Phenotypic Spectrum of\n                    <scp>\n                      GAA\u2010\n                      <i>FGF14<\/i>\n                    <\/scp>\n                    Sporadic Late\u2010Onset Cerebellar Ataxia (\n                    <scp>SCA27B<\/scp>\n                    )"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4427-5765","authenticated-orcid":false,"given":"Thomas","family":"Wirth","sequence":"first","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Institute of Genetics and Cellular and Molecular Biology, INSERM\u2010U964; CNRS\u2010UMR7104 University of Strasbourg  Illkirch\u2010Graffenstaden France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillemette","family":"Cl\u00e9ment","sequence":"additional","affiliation":[{"name":"Neurology Department Nancy Regional University Hospital  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Delvall\u00e9e","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Institute of Genetics and Cellular and Molecular Biology, INSERM\u2010U964; CNRS\u2010UMR7104 University of Strasbourg  Illkirch\u2010Graffenstaden France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6799-0438","authenticated-orcid":false,"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Nancy Regional University Hospital  Nancy France"},{"name":"INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE) Lorraine University  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bogdan","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andra","family":"Iosif","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital of Mulhouse  Mulhouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Schalk","sequence":"additional","affiliation":[{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Genetic Diagnosis Laboratory Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Chanson","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Neuromuscular Center Nord\/Est\/Ile\u2010de\u2010France Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute  Montreal Canada"},{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Roth","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Nancy Regional University Hospital  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Wandzel","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Nancy Regional University Hospital  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010C\u00e9line","family":"Fleury","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Institute of Genetics and Cellular and Molecular Biology, INSERM\u2010U964; CNRS\u2010UMR7104 University of Strasbourg  Illkirch\u2010Graffenstaden France"},{"name":"Genetic Diagnosis Laboratory Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge","family":"Calmels","sequence":"additional","affiliation":[{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Genetic Diagnosis Laboratory Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izzie Jacques","family":"Namer","sequence":"additional","affiliation":[{"name":"MNMS Platform University Hospitals of Strasbourg  Strasbourg France"},{"name":"ICube University of Strasbourg\/CNRS UMR 7357  Strasbourg France"},{"name":"Department of Nuclear Medicine and Molecular Imaging  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Kremer","sequence":"additional","affiliation":[{"name":"ICube University of Strasbourg\/CNRS UMR 7357  Strasbourg France"},{"name":"Neuroradiology Department Strasbourg University Hospital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Tranchant","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Institute of Genetics and Cellular and Molecular Biology, INSERM\u2010U964; CNRS\u2010UMR7104 University of Strasbourg  Illkirch\u2010Graffenstaden France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[{"name":"Neurology Department Nancy Regional University Hospital  Nancy France"},{"name":"INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE) Lorraine University  Nancy France"},{"name":"Clinical Genetics Department Nancy Regional University Hospital  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"Neurology Department Strasbourg University Hospital  Strasbourg France"},{"name":"Strasbourg Federation of Translational Medicine Strasbourg University  Strasbourg France"},{"name":"Institute of Genetics and Cellular and Molecular Biology, INSERM\u2010U964; CNRS\u2010UMR7104 University of Strasbourg  Illkirch\u2010Graffenstaden France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2207406"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.015"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2023.02.062"},{"key":"e_1_2_8_5_1","first-page":"1","article-title":"Deciphering the causes of sporadic late\u2010onset cerebellar ataxias: a prospective study with implications for diagnostic work","volume":"6","author":"Gebus O","year":"2017","journal-title":"J Neurol"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09737-z"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000013172"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-022-11253-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09702-w"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp211"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324625.00404.15"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29005"},{"key":"e_1_2_8_14_1","article-title":"Optimized testing strategy for the diagnosis of GAA\u2010FGF14 ataxia","author":"Bonnet C","year":"2023","journal-title":"medRxiv"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011528"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(16)30287-3"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26633"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29560","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:36:45Z","timestamp":1760960205000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,20]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/mds.29560"],"URL":"https:\/\/doi.org\/10.1002\/mds.29560","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,20]]},"assertion":[{"value":"2023-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}