{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:26:53Z","timestamp":1790778413629,"version":"4.1.0"},"reference-count":108,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T00:00:00Z","timestamp":1706313600000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["441409627"],"award-info":[{"award-number":["441409627"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["2R01NS072248\u201011A1"],"award-info":[{"award-number":["2R01NS072248\u201011A1"]}],"id":[{"id":"10.13039\/100000065","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"}]},{"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\/501100012317","name":"UCLH Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical &amp;amp; Translational Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease\u2010modifying gene\u2010stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long\u2010read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27B (SCA27B) caused by a (GAA)\u2022(TTC) repeat expansion in intron 1 of the fibroblast growth factor 14 (\n                    <jats:italic>FGF14<\/jats:italic>\n                    ) gene. SCA27B is rapidly gaining recognition as one of the most common forms of adult\u2010onset hereditary ataxia, with several studies showing that it accounts for a substantial number (9\u201361%) of previously undiagnosed cases from different cohorts. First natural history studies and multiple reports have already outlined the progression and core phenotype of this novel disease, which consists of a late\u2010onset slowly progressive pan\u2010cerebellar syndrome that is frequently associated with cerebellar oculomotor signs, such as downbeat nystagmus, and episodic symptoms. Furthermore, preliminary studies in patients with SCA27B have shown promising symptomatic benefits of 4\u2010aminopyridine, an already marketed drug. This review describes the current knowledge of the genetic and molecular basis, epidemiology, clinical features and prospective treatment strategies in SCA27B.\n                  <\/jats:p>","DOI":"10.1002\/ctm2.1504","type":"journal-article","created":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T05:59:13Z","timestamp":1706335153000},"source":"Crossref","is-referenced-by-count":82,"title":["Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia"],"prefix":"10.1002","volume":"14","author":[{"given":"David","family":"Pellerin","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute McGill University  Montreal Quebec 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":"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":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[{"name":"INSERM\u2010U1256 NGERE Universit\u00e9 de Lorraine  Nancy France"},{"name":"Service de Neurologie, CHRU de Nancy  Nancy France"},{"name":"Service de G\u00e9n\u00e9tique Clinique, CHRU de Nancy  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"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":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"Division of Translational Genomics of Neurodegenerative Diseases Hertie\u2010Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE)  T\u00fcbingen Germany"}],"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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1394-3561","authenticated-orcid":false,"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"}]}],"member":"311","published-online":{"date-parts":[[2024,1,27]]},"reference":[{"key":"e_1_2_17_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2035790"},{"key":"e_1_2_17_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.003"},{"key":"e_1_2_17_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30033-X"},{"key":"e_1_2_17_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200071"},{"key":"e_1_2_17_6_1","volume-title":"GeneReviews(\u00ae)","author":"Perlman S","year":"1993"},{"key":"e_1_2_17_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23946"},{"key":"e_1_2_17_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-017-0532-6"},{"key":"e_1_2_17_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004311"},{"key":"e_1_2_17_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-022-11253-1"},{"key":"e_1_2_17_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01268-1"},{"key":"e_1_2_17_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-019-1828-7"},{"key":"e_1_2_17_13_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.13980.1"},{"key":"e_1_2_17_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.011"},{"key":"e_1_2_17_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29032"},{"key":"e_1_2_17_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28819"},{"key":"e_1_2_17_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.01.049"},{"key":"e_1_2_17_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00426"},{"key":"e_1_2_17_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012466"},{"key":"e_1_2_17_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0372-4"},{"key":"e_1_2_17_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.016"},{"key":"e_1_2_17_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2207406"},{"key":"e_1_2_17_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.05.005"},{"key":"e_1_2_17_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29559"},{"key":"e_1_2_17_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/345488"},{"key":"e_1_2_17_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201286"},{"key":"e_1_2_17_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51005"},{"key":"e_1_2_17_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00744-4"},{"key":"e_1_2_17_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc2301605"},{"key":"e_1_2_17_30_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc2301605"},{"key":"e_1_2_17_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad157"},{"key":"e_1_2_17_32_1","article-title":"Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4\u2010aminopyridine treatment response","author":"Pellerin D","year":"2023","journal-title":"medRxiv"},{"key":"e_1_2_17_33_1","article-title":"A common flanking variant is associated with enhanced meiotic stability of the FGF14\u2010SCA27B locus","author":"Pellerin D","year":"2023","journal-title":"Biorxiv"},{"key":"e_1_2_17_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29390"},{"key":"e_1_2_17_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29552"},{"key":"e_1_2_17_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16039"},{"key":"e_1_2_17_37_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_17_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.014662"},{"key":"e_1_2_17_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1995.tb00430.x"},{"key":"e_1_2_17_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.2.855"},{"key":"e_1_2_17_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-008-0028-x"},{"key":"e_1_2_17_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-36654-8"},{"key":"e_1_2_17_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29560"},{"key":"e_1_2_17_44_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200094"},{"key":"e_1_2_17_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010023\u201001200\u2010x"},{"key":"e_1_2_17_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51936"},{"key":"e_1_2_17_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13666"},{"key":"e_1_2_17_48_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.69"},{"key":"e_1_2_17_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00202-1"},{"key":"e_1_2_17_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102200"},{"key":"e_1_2_17_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcad239"},{"key":"e_1_2_17_52_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcad239"},{"key":"e_1_2_17_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11868-y"},{"key":"e_1_2_17_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-1020-5"},{"key":"e_1_2_17_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22288"},{"key":"e_1_2_17_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010023\u201012050\u20100"},{"key":"e_1_2_17_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab072"},{"key":"e_1_2_17_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab449"},{"key":"e_1_2_17_59_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011528"},{"key":"e_1_2_17_60_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2023-331381"},{"key":"e_1_2_17_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26944"},{"key":"e_1_2_17_62_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-022-11383-6"},{"key":"e_1_2_17_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-022-00382-6"},{"key":"e_1_2_17_64_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1311488"},{"key":"e_1_2_17_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29005"},{"key":"e_1_2_17_66_1","volume-title":"GeneReviews(\u00ae)","author":"Casey HL"},{"key":"e_1_2_17_67_1","unstructured":"Copyright \u00a9 1993\u20132023 University of Washington Seattle. GeneReviews is a registered trademark of the University of Washington Seattle. All rights reserved. 1993."},{"key":"e_1_2_17_68_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0142-7"},{"key":"e_1_2_17_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420616"},{"key":"e_1_2_17_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2023.120849"},{"key":"e_1_2_17_71_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr\/73834093"},{"key":"e_1_2_17_72_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000176069.64200.28"},{"key":"e_1_2_17_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00042-5"},{"key":"e_1_2_17_74_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7310-2"},{"key":"e_1_2_17_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64189-2.00013-5"},{"key":"e_1_2_17_76_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000101675.61074.50"},{"key":"e_1_2_17_77_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.747"},{"key":"e_1_2_17_78_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000001017"},{"key":"e_1_2_17_79_1","doi-asserted-by":"publisher","DOI":"10.1080\/14734220510007950"},{"key":"e_1_2_17_80_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcab306"},{"key":"e_1_2_17_81_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.157"},{"key":"e_1_2_17_82_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-201213"},{"key":"e_1_2_17_83_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2017.01.017"},{"key":"e_1_2_17_84_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-019-0244-7"},{"key":"e_1_2_17_85_1","doi-asserted-by":"crossref","unstructured":"MullardA.2023:22(4)258. FDA approves first Friedreich's ataxia drug. Nature reviews Drug discovery.https:\/\/doi.org\/10.1038\/d41573-023-00041-9","DOI":"10.1038\/d41573-023-00041-9"},{"key":"e_1_2_17_86_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005055"},{"key":"e_1_2_17_87_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318225ab07"},{"key":"e_1_2_17_88_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01361-5"},{"key":"e_1_2_17_89_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304736"},{"key":"e_1_2_17_90_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2663-14.2015"},{"key":"e_1_2_17_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.09.019"},{"key":"e_1_2_17_92_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3582-09.2010"},{"key":"e_1_2_17_93_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep29489"},{"key":"e_1_2_17_94_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0905-11.2011"},{"key":"e_1_2_17_95_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"e_1_2_17_96_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1115"},{"key":"e_1_2_17_97_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-21484-w"},{"key":"e_1_2_17_98_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2013.07.008"},{"key":"e_1_2_17_99_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2017.00103"},{"key":"e_1_2_17_100_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.097220"},{"key":"e_1_2_17_101_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.04193"},{"key":"e_1_2_17_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80474-8"},{"key":"e_1_2_17_103_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101852200"},{"key":"e_1_2_17_104_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.23.14588"},{"key":"e_1_2_17_105_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm346"},{"key":"e_1_2_17_106_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn604"},{"key":"e_1_2_17_107_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm271"},{"key":"e_1_2_17_108_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01596"},{"key":"e_1_2_17_109_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aan6414"}],"container-title":["Clinical and Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ctm2.1504","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T01:08:26Z","timestamp":1716253706000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ctm2.1504"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":108,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ctm2.1504"],"URL":"https:\/\/doi.org\/10.1002\/ctm2.1504","archive":["Portico"],"relation":{},"ISSN":["2001-1326","2001-1326"],"issn-type":[{"value":"2001-1326","type":"print"},{"value":"2001-1326","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1]]},"article-number":"e1504"}}