{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T02:30:00Z","timestamp":1791772200900,"version":"4.3.4"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:00:00Z","timestamp":1697760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:00:00Z","timestamp":1697760000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013859","name":"Damp Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013859","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004168","name":"Universit\u00e4t zu L\u00fcbeck","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004168","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1007\/s00415-023-12050-0","type":"journal-article","created":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T13:03:44Z","timestamp":1697807024000},"page":"1023-1027","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B"],"prefix":"10.1007","volume":"271","author":[{"given":"Max","family":"Borsche","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirja","family":"Thomsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Szmulewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bente","family":"L\u00fcbbers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frauke","family":"Hinrichs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Helmchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5969-6899","authenticated-orcid":false,"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,20]]},"reference":[{"key":"12050_CR1","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","volume":"51","author":"A Cortese","year":"2019","unstructured":"Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649\u2013658. https:\/\/doi.org\/10.1038\/s41588-019-0372-4","journal-title":"Nat Genet"},{"key":"12050_CR2","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ajhg.2019.05.016","volume":"105","author":"H Rafehi","year":"2019","unstructured":"Rafehi H, Szmulewicz DJ, Bennett MF et al (2019) Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. Am J Hum Genet 105:151\u2013165. https:\/\/doi.org\/10.1016\/j.ajhg.2019.05.016","journal-title":"Am J Hum Genet"},{"key":"12050_CR3","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1093\/brain\/awz418","volume":"143","author":"A Cortese","year":"2020","unstructured":"Cortese A, Tozza S, Yau WY et al (2020) Cerebellar ataxia, neuropathy, vestibular are flexia syndrome due to RFC1 repeat expansion. Brain 143:480\u2013490. https:\/\/doi.org\/10.1093\/brain\/awz418","journal-title":"Brain"},{"key":"12050_CR4","doi-asserted-by":"publisher","first-page":"e2912","DOI":"10.1212\/WNL.0000000000010744","volume":"95","author":"M Gisatulin","year":"2020","unstructured":"Gisatulin M, Dobricic V, Z\u00fchlke C et al (2020) Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. Neurology 95:e2912\u2013e2923. https:\/\/doi.org\/10.1212\/WNL.0000000000010744","journal-title":"Neurology"},{"key":"12050_CR5","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1016\/j.ajhg.2023.05.005","volume":"110","author":"H Rafehi","year":"2023","unstructured":"Rafehi H, Read J, Szmulewicz DJ et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B\/ATX-FGF14. Am J Hum Genet 110:1018. https:\/\/doi.org\/10.1016\/j.ajhg.2023.05.005","journal-title":"Am J Hum Genet"},{"key":"12050_CR6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2207406","author":"D Pellerin","year":"2022","unstructured":"Pellerin D, Danzi MC, Wilke C et al (2022) Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med. https:\/\/doi.org\/10.1056\/NEJMoa2207406","journal-title":"N Engl J Med"},{"key":"12050_CR7","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29560","author":"T Wirth","year":"2023","unstructured":"Wirth T, Cl\u00e9ment G, Delvall\u00e9e C et al (2023) Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B). Mov Disord. https:\/\/doi.org\/10.1002\/mds.29560","journal-title":"Mov Disord"},{"key":"12050_CR8","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2023-331490","author":"D Pellerin","year":"2023","unstructured":"Pellerin D, Wilke C, Trasch\u00fctz A et al (2023) Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. J Neurol Neurosurg Psychiatry. https:\/\/doi.org\/10.1136\/jnnp-2023-331490","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"12050_CR9","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.2546","volume":"12","author":"M Borsche","year":"2022","unstructured":"Borsche M, Tadic V, K\u00f6nig IR et al (2022) Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS. Brain Behav 12:e32546. https:\/\/doi.org\/10.1002\/brb3.2546","journal-title":"Brain Behav"},{"key":"12050_CR10","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1016\/j.jns.2015.09.379","volume":"358","author":"C Helmchen","year":"2015","unstructured":"Helmchen C, Livitzis E, Sprenger A, Trillenberg P (2015) Cerebellar ataxia with unilateral high frequency vestibulopathy and caloric disinhibition. J Neurol Sci 358:527\u2013529. https:\/\/doi.org\/10.1016\/j.jns.2015.09.379","journal-title":"J Neurol Sci"},{"key":"12050_CR11","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1002\/mds.29390","volume":"38","author":"P Saffie Awad","year":"2023","unstructured":"Saffie Awad P, Lohmann K, Hirmas Y et al (2023) Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a chilean family. Mov Disord 38:1107\u20131109. https:\/\/doi.org\/10.1002\/mds.29390","journal-title":"Mov Disord"},{"key":"12050_CR12","doi-asserted-by":"publisher","first-page":"1575","DOI":"10.1002\/mds.29552","volume":"38","author":"D Pellerin","year":"2023","unstructured":"Pellerin D, Iruzubieta P, Tekg\u00fcl \u015e et al (2023) Non-GAA repeat expansions in FGF14 are likely not pathogenic-reply to: \u201cshaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family.\u201d Mov Disord 38:1575\u20131577. https:\/\/doi.org\/10.1002\/mds.29552","journal-title":"Mov Disord"},{"key":"12050_CR13","doi-asserted-by":"publisher","first-page":"154","DOI":"10.3389\/fneur.2015.00154","volume":"6","author":"LA McGarvie","year":"2015","unstructured":"McGarvie LA, MacDougall HG, Halmagyi GM et al (2015) The video head impulse test (vHIT) of semicircular canal function - age-dependent normative values of VOR gain in healthy subjects. Front Neurol 6:154. https:\/\/doi.org\/10.3389\/fneur.2015.00154","journal-title":"Front Neurol"},{"key":"12050_CR14","doi-asserted-by":"publisher","first-page":"162","DOI":"10.3389\/fneur.2012.00162","volume":"3","author":"O Kremmyda","year":"2012","unstructured":"Kremmyda O, Kirchner H, Glasauer S et al (2012) False-positive head-impulse test in cerebellar ataxia. Front Neurol 3:162. https:\/\/doi.org\/10.3389\/fneur.2012.00162","journal-title":"Front Neurol"},{"key":"12050_CR15","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1152\/jn.1981.46.4.878","volume":"46","author":"DS Zee","year":"1981","unstructured":"Zee DS, Yamazaki A, Butler PH, G\u00fccer G (1981) Effects of ablation of flocculus and paraflocculus of eye movements in primate. J Neurophysiol 46:878\u2013899. https:\/\/doi.org\/10.1152\/jn.1981.46.4.878","journal-title":"J Neurophysiol"},{"key":"12050_CR16","doi-asserted-by":"publisher","first-page":"e332","DOI":"10.1097\/MAO.0000000000002985","volume":"42","author":"R Ishai","year":"2021","unstructured":"Ishai R, Seyyedi M, Chancellor AM et al (2021) The pathology of the vestibular system in CANVAS. Otol Neurotol 42:e332\u2013e340. https:\/\/doi.org\/10.1097\/MAO.0000000000002985","journal-title":"Otol Neurotol"},{"issue":"3","key":"12050_CR17","doi-asserted-by":"publisher","first-page":"e14","DOI":"10.1093\/brain\/awac466","volume":"146","author":"S Weber","year":"2022","unstructured":"Weber S, Coarelli G, Heinzmann A et al (2022) Two RFC1 splicing variants in CANVAS. Brain 146(3):e14\u2013e16. https:\/\/doi.org\/10.1093\/brain\/awac466","journal-title":"Brain"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-12050-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-12050-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-12050-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T02:07:32Z","timestamp":1706666852000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-12050-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,20]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["12050"],"URL":"https:\/\/doi.org\/10.1007\/s00415-023-12050-0","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,20]]},"assertion":[{"value":"31 August 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"On behalf of all authors, the corresponding author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"All participants gave written informed consent. The study was conducted with the approval by the ethics committee of the University of L\u00fcbeck.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}