{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:56:52Z","timestamp":1781650612046,"version":"3.54.5"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T00:00:00Z","timestamp":1776643200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T00:00:00Z","timestamp":1776643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100008331","name":"Universidade Federal Do Rio De Janeiro","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008331","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Spinocerebellar ataxia type 23 (SCA23) is a rare autosomal dominant hereditary ataxia caused by a pathogenic variant in the\n                    <jats:italic>PDYN<\/jats:italic>\n                    gene. It usually presents in adulthood, with a mean age of onset around 43\u2009\u00b1\u200915 years (reported range: 10\u201373 years), and progresses slowly with cerebellar symptoms. We report a case of a Brazilian 25-year-old female patient whose symptoms began at 19 years of age, characterized by progressive dysarthria, tremor, dysphagia, and gait disturbance. She had no relatives with similar symptoms. The initial genetic ataxia panel, which included the most prevalent hereditary ataxia genes, was negative. Subsequent next-generation sequencing identified a pathogenic variant in the\n                    <jats:italic>PDYN<\/jats:italic>\n                    gene, confirming the diagnosis of SCA23. Brain MRI demonstrated significant cerebellar atrophy. The patient was referred to a multidisciplinary rehabilitation group with emphasis on functional rehabilitation of gait and dysphagia. This case is notable for the rarity of SCA23 in the Americas, the relatively young age at onset compared with the reported mean age in the literature, while still remaining within the previously described age range, and the absence of a family history of ataxia or other neurological symptoms, despite SCA23 having an autosomal dominant inheritance pattern.\n                  <\/jats:p>","DOI":"10.1007\/s12311-026-02001-6","type":"journal-article","created":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T03:27:51Z","timestamp":1776655671000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spinocerebellar Ataxia Type 23 (SCA23): A Rare Cause of SCA in the Americas"],"prefix":"10.1007","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5091-3128","authenticated-orcid":false,"given":"Victor Monteiro Dias","family":"Saadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4203-5765","authenticated-orcid":false,"given":"Daniel","family":"Nassif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9080-7833","authenticated-orcid":false,"given":"Luiz Felipe","family":"Vasconcellos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,20]]},"reference":[{"key":"2001_CR1","doi-asserted-by":"publisher","unstructured":"Zesiewicz TA. Ataxia. Continuum (Minneap Minn). 2025;31(4):1093\u20131119. Epub 2025 Aug 1. https:\/\/doi.org\/10.1212\/cont.0000000000001599","DOI":"10.1212\/cont.0000000000001599"},{"key":"2001_CR2","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1007\/s11910-024-01400-8","volume":"25","author":"D Pellerin","year":"2025","unstructured":"Pellerin D, Iruzubieta P, Xu IRL, et al. Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions. Curr Neurol Neurosci Rep. 2025;25:16. https:\/\/doi.org\/10.1007\/s11910-024-01400-8.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2001_CR3","doi-asserted-by":"publisher","first-page":"2414","DOI":"10.1007\/s12311-024-01745-3","volume":"23","author":"MCC Ganimi","year":"2024","unstructured":"Ganimi MCC, Couto CM, Ferreira ALR, Paiva CLA. Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype\u2013Phenotype Analysis. Cerebellum. 2024;23:2414\u201325. https:\/\/doi.org\/10.1007\/s12311-024-01745-3.","journal-title":"Cerebellum"},{"issue":"11","key":"2001_CR4","doi-asserted-by":"publisher","first-page":"2551","DOI":"10.1093\/brain\/awh276","volume":"127","author":"DS Verbeek","year":"2004","unstructured":"Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13\u201312.3. Brain. 2004;127(11):2551\u20137. https:\/\/doi.org\/10.1093\/brain\/awh276.","journal-title":"Brain"},{"issue":"5","key":"2001_CR5","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1016\/j.ajhg.2010.10.001","volume":"87","author":"G Bakalkin","year":"2010","unstructured":"Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, et al. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet. 2010;87(5):593\u2013603. https:\/\/doi.org\/10.1016\/j.ajhg.2010.10.001.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2001_CR6","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.parkreldis.2014.12.028","volume":"21","author":"K Saigoh","year":"2015","unstructured":"Saigoh K, Mitsui J, Hirano M, Shioyama M, Samukawa M, Ichikawa Y, et al. The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. Parkinsonism Relat Disord. 2015;21(3):332\u20134. https:\/\/doi.org\/10.1016\/j.parkreldis.2014.12.028.","journal-title":"Parkinsonism Relat Disord"},{"key":"2001_CR7","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.neulet.2012.08.062","volume":"528","author":"YT Liu","year":"2012","unstructured":"Liu YT, Tang BS, Wang JL, Guan WJ, Shen L, Shi YT, et al. Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population. Neurosci Lett. 2012;528:51\u20134. https:\/\/doi.org\/10.1016\/j.neulet.2012.08.062.","journal-title":"Neurosci Lett"},{"issue":"8","key":"2001_CR8","doi-asserted-by":"publisher","first-page":"e42","DOI":"10.1093\/brain\/aww093","volume":"139","author":"JL Pedroso","year":"2016","unstructured":"Pedroso JL, Vale TC, Freua F, Barsottini OGP, Kok F. SCA23 and prodynorphin: is it time for gene retraction? Brain. 2016;139(8):e42. https:\/\/doi.org\/10.1093\/brain\/aww093.","journal-title":"Brain"},{"issue":"3","key":"2001_CR9","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1002\/mds.24064","volume":"27","author":"BL Fogel","year":"2012","unstructured":"Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, et al. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord. 2012;27(3):442\u20135. https:\/\/doi.org\/10.1002\/mds.24064.","journal-title":"Mov Disord"},{"issue":"11","key":"2001_CR10","doi-asserted-by":"publisher","first-page":"4630","DOI":"10.1007\/s00415-020-10297-5","volume":"268","author":"F Wu","year":"2021","unstructured":"Wu F, Wang X, Li X, Teng H, Tian T, Bai J. Spinocerebellar ataxia type 23 (SCA23): a review. J Neurol. 2021;268(11):4630\u201345. https:\/\/doi.org\/10.1007\/s00415-020-10297-5.","journal-title":"J Neurol"},{"issue":"5","key":"2001_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s40673-020-00117-1","volume":"7","author":"KE Hekman","year":"2020","unstructured":"Hekman KE, Yu Y, Brown CD, Zhu H, Schelhaas HJ, Lynch DR, et al. Intrafamilial phenotypic variation in spinocerebellar ataxia type 23. Cerebellum Ataxias. 2020;7(5):1\u20138. https:\/\/doi.org\/10.1186\/s40673-020-00117-1.","journal-title":"Cerebellum Ataxias"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-02001-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-026-02001-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-02001-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:23:36Z","timestamp":1781648616000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-026-02001-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,20]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["2001"],"URL":"https:\/\/doi.org\/10.1007\/s12311-026-02001-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-8167444\/v1","asserted-by":"object"}]},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,20]]},"assertion":[{"value":"20 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"58"}}