{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:25:38Z","timestamp":1790126738439,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T00:00:00Z","timestamp":1705190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (\n                    <jats:italic>FGF14<\/jats:italic>\n                    ) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late\u2010onset cerebellar ataxia (LOCA) for\n                    <jats:italic>FGF14<\/jats:italic>\n                    repeat expansions using a combination of long\u2010range PCR and bidirectional repeat\u2010primed PCRs. We identified 19 index cases (12%) carrying a pathogenic\n                    <jats:italic>FGF14<\/jats:italic>\n                    GAA expansion, a diagnostic yield higher than that of previously screened repeat\u2010expansion ataxias in Greek LOCA patients. The age at onset of SCA27B patients was 60.5\u2009\u00b1\u200912.3\u2009years (range, 34\u201380). Episodic onset (37%), downbeat nystagmus (32%) and vertigo (26%) were significantly more frequent in\n                    <jats:italic>FGF14<\/jats:italic>\n                    expansion\u2010positive cases compared to expansion\u2010negative cases. Beyond typical cerebellar signs, SCA27B patients often displayed hyperreflexia (47%) and reduced vibration sense in the lower extremities (42%). The frequency and phenotypic profile of SCA27B in Greek patients was similar to most other previously studied populations. We conclude that\n                    <jats:italic>FGF14<\/jats:italic>\n                    GAA repeat expansions are the commonest known genetic cause of LOCA in the Greek population and recommend prioritizing testing for\n                    <jats:italic>FGF14<\/jats:italic>\n                    expansions in the diagnostic algorithm of patients with LOCA.\n                  <\/jats:p>","DOI":"10.1111\/cge.14482","type":"journal-article","created":{"date-parts":[[2024,1,15]],"date-time":"2024-01-15T02:53:13Z","timestamp":1705287193000},"page":"446-452","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["The\n                    <i>FGF14<\/i>\n                    <scp>GAA<\/scp>\n                    repeat expansion in Greek patients with late\u2010onset cerebellar ataxia and an overview of the\n                    <scp>SCA27B<\/scp>\n                    phenotype across populations"],"prefix":"10.1111","volume":"105","author":[{"given":"Chrisoula","family":"Kartanou","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Mitrousias","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute, McGill University  Montreal Qu\u00e9bec Canada"},{"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":"Zoi","family":"Kontogeorgiou","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Iruzubieta","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 Donostia University Hospital, Biogipuzkoa 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":"Marie\u2010Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute, McGill University  Montreal Qu\u00e9bec 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":"Chrysoula","family":"Koniari","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Athanassopoulos","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Panas","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonidas","family":"Stefanis","sequence":"additional","affiliation":[{"name":"1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"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":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute, McGill University  Montreal Qu\u00e9bec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Qu\u00e9bec 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":"Georgia","family":"Karadima","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Koutsis","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology National and Kapodistrian University of Athens, Eginitio Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.436"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004311"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00656-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa2207406"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.05.005"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad157"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.019"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13960"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.105253"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010023\u201036654\u20108"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29560"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29559"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200094"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16039"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.10.012"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc2301605"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc2301605"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14482","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T07:07:33Z","timestamp":1709708853000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,14]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1111\/cge.14482"],"URL":"https:\/\/doi.org\/10.1111\/cge.14482","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14482\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14482\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,14]]},"assertion":[{"value":"2023-11-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}