{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T17:38:48Z","timestamp":1776188328942,"version":"3.50.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T00:00:00Z","timestamp":1573516800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T00:00:00Z","timestamp":1573516800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Queen's University of Belfast"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C&gt;T p.(Thr271Ile) mutation within the <jats:italic>SPTBN2<\/jats:italic> gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.<\/jats:p>","DOI":"10.1007\/s12311-019-01085-7","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T23:02:18Z","timestamp":1573599738000},"page":"161-163","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy"],"prefix":"10.1007","volume":"19","author":[{"given":"Gillian","family":"Rea","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandya","family":"Tirupathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penny","family":"Clouston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2823-1762","authenticated-orcid":false,"given":"Patrick J.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,11,12]]},"reference":[{"key":"1085_CR1","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/B978-0-444-64189-2.00010-X","volume":"155","author":"BW Soong","year":"2018","unstructured":"Soong BW, Morrison PJ. Spinocerebellar ataxias. Handb Clin Neurol. 2018;155:143\u201374.","journal-title":"Handb Clin Neurol"},{"issue":"10","key":"1085_CR2","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1177\/0883073812454331","volume":"28","author":"FD Jacob","year":"2013","unstructured":"Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS. Case of infantile onset spinocerebellar ataxia type 5. J Child Neurol. 2013;28(10):1292\u20135.","journal-title":"J Child Neurol"},{"key":"1085_CR3","doi-asserted-by":"publisher","first-page":"1817","DOI":"10.1093\/brain\/awv117","volume":"138","author":"R Parolin Schnekenberg","year":"2015","unstructured":"Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, et al. De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain. 2015;138:1817\u201332.","journal-title":"Brain"},{"issue":"7","key":"1085_CR4","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1038\/s41431-018-0158-7","volume":"26","author":"S Nuovo","year":"2018","unstructured":"Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, et al. Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype. Eur J Hum Genet. 2018;26(7):928\u20139.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"1085_CR5","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1111\/cge.13562","volume":"96","author":"F Nicita","year":"2019","unstructured":"Nicita F, Nardella M, Bellacchio E, et al. heterozygous variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Clin Genet. 2019;96(2):169\u201375.","journal-title":"Clin Genet"},{"issue":"2","key":"1085_CR6","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1038\/ng1728","volume":"38","author":"Y Ikeda","year":"2006","unstructured":"Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006;38(2):184\u201390.","journal-title":"Nat Genet"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-019-01085-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12311-019-01085-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-019-01085-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T01:17:22Z","timestamp":1605057442000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12311-019-01085-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,12]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["1085"],"URL":"https:\/\/doi.org\/10.1007\/s12311-019-01085-7","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,12]]},"assertion":[{"value":"12 November 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors have no potential conflicts of interest to declare. All authors wrote and approved the final article. PJM designed the study and assembled the data. There was no funding of the research.Disclosure statement: GR, ST, JW, PC and PJM have nothing to disclose. See signed Disclosure of potential conflicts of interest statement.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosure"}}]}}