{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:34:44Z","timestamp":1783953284305,"version":"3.55.0"},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Objectives: In Spinocerebellar Ataxia type 17 (SCA17), penetrance is determined by repeat number of the CAG\/CAA trinucleotide in the TATA-binding protein (TBP) gene. The intermediate range (41\u201348) exhibits only partial penetrance but may manifest a Huntington\u2019s disease-like (HDL-4) syndrome with onset at age 50\u201360 years. We report a unique case of HDL-4 with childhood onset despite intermediate range repeats. Methods: This patient was evaluated at the University of Minnesota Movement Disorders Clinic. Standard Protocol Approvals, Registrations, and Patient Consents: Informed consent to disclose was obtained from the legal guardian of the subject of this report. Results: A 14-year-old male of Chinese descent presented with generalized dystonic and choreoathetoid movements since age 11 alongside motor delays, epilepsy, and speech, balance, and coordination dysfunction since infancy. Family history was limited given his adoptive status. Subsequent workup confirmed SCA17 with repeat numbers of 43 and 37 in the intermediate range. Discussion: This is the first case of intermediate range SCA17 of childhood-onset, emphasizing the evolving classification of intermediate vs. full penetrance while suggesting that the TBP repeat length may not be the sole determinant of disease onset and severity. It also highlights the importance of repeat expansion panels when investigating complex movement disorders.<\/jats:p>","DOI":"10.1007\/s12311-026-01979-3","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T14:43:02Z","timestamp":1773758582000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Childhood-Onset Huntington\u2019s Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report"],"prefix":"10.1007","volume":"25","author":[{"given":"Meaghan","family":"Berns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsey","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Speltz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo Brito","family":"Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"1979_CR1","unstructured":"Toyoshima Y, Onodera O, Yamada M, Tsuji S, Takahashi H. Spinocerebellar ataxia type 17. PubMed. Published. 1993. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1438\/"},{"key":"1979_CR2","doi-asserted-by":"publisher","unstructured":"Nethisinghe S, Lim WN, Ging H, et al. Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Front Cell Neurosci. 2018;12. https:\/\/doi.org\/10.3389\/fncel.2018.00429.","DOI":"10.3389\/fncel.2018.00429"},{"key":"1979_CR3","unstructured":"Richard JH, Smith, Jones MKN. Nonsyndromic hearing loss and deafness, DFNB1. Nih.gov. Published August 18, 2016. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1272\/"},{"issue":"4","key":"1979_CR4","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1002\/mds.29352","volume":"38","author":"L Nanetti","year":"2023","unstructured":"Nanetti L, Magri S, Fichera M, et al. Complex ataxia-dementia phenotype in patients with digenic TBP\/stub1 spinocerebellar ataxia. Mov Disord. 2023;38(4):665\u201375. https:\/\/doi.org\/10.1002\/mds.29352.","journal-title":"Mov Disord"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-01979-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-026-01979-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-01979-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T15:53:26Z","timestamp":1781625206000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-026-01979-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,17]]},"references-count":4,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["1979"],"URL":"https:\/\/doi.org\/10.1007\/s12311-026-01979-3","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,17]]},"assertion":[{"value":"3 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 March 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":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"34"}}