{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T23:02:14Z","timestamp":1773702134309,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1007\/s10072-021-05313-z","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T17:02:58Z","timestamp":1621875778000},"page":"4309-4315","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability"],"prefix":"10.1007","volume":"42","author":[{"given":"Federico","family":"Paolini Paoletti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Nigro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Simoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Cappelletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Filidei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Calabresi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilla","family":"Parnetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1497-4482","authenticated-orcid":false,"given":"Nicola","family":"Tambasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,24]]},"reference":[{"issue":"11","key":"5313_CR1","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1093\/hmg\/8.11.2047","volume":"8","author":"R Koide","year":"1999","unstructured":"Koide R, Kobajashi S, Shimohata T et al (1999) A neurological disease caused by an expanded CAG trinucleotide in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8(11):2047\u20132053","journal-title":"Hum Mol Genet"},{"issue":"4","key":"5313_CR2","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1001\/archneur.59.4.623","volume":"59","author":"I Silveira","year":"2002","unstructured":"Silveira I, Miranda C, Guimaraes L et al (2002) Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 59(4):623\u2013629","journal-title":"Arch Neurol"},{"key":"5313_CR3","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/1471-2350-6-27","volume":"6","author":"C Zhulke","year":"2005","unstructured":"Zhulke C, Dalski A, Schwinger E, Finckh U (2005) Spinocerebellar ataxia type 17: report of a family with reduced penetrance of un unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA 17 genotypes. BMC Med Genet 6:27\u201332","journal-title":"BMC Med Genet"},{"issue":"3","key":"5313_CR4","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/mds.21275","volume":"22","author":"A Nanda","year":"2007","unstructured":"Nanda A, Jackson SA, Schwankhaus JD (2007) Case of spinocerbellar ataxia type 17 (SCA 17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord 22(3):436","journal-title":"Mov Disord"},{"key":"5313_CR5","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/ana.10676","volume":"54","author":"A Rolfs","year":"2003","unstructured":"Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Sch\u00f6ls L, Riess O (2003) Clinical features and neuropathology of autosomal dominant spinocerbellar ataxia (SCA 17). Ann Neurol 54:367\u2013375","journal-title":"Ann Neurol"},{"key":"5313_CR6","doi-asserted-by":"publisher","first-page":"429","DOI":"10.3389\/fncel.2018.00429","volume":"12","author":"S Nethisinghe","year":"2018","unstructured":"Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P (2018) Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Front Cell Neurosci 12:429","journal-title":"Front Cell Neurosci"},{"issue":"16","key":"5313_CR7","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1212\/WNL.0b013e3181a18876","volume":"72","author":"JY Kim","year":"2009","unstructured":"Kim JY, Kim SY, Kim JM et al (2009) Spinocerebellar ataxia type 17 mutation as causative and susceptibility gene in parkinsonism. Neurology 72(16):1385\u20131389","journal-title":"Neurology"},{"issue":"1","key":"5313_CR8","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/mds.25770","volume":"29","author":"KM Doherty","year":"2014","unstructured":"Doherty KM, Warner TT, Lees AJ (2014) Late onset ataxia: MSA-c or SCA17? A gene penetrance dilemma. Mov Disord 29(1):36\u201338","journal-title":"Mov Disord"},{"issue":"6","key":"5313_CR9","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1002\/mds.20827","volume":"21","author":"E Salvatore","year":"2006","unstructured":"Salvatore E, Varrone A, Sansone V, Nolano M, Bruni AC, de Rosa A, Santoro L, Pappat\u00e0 S, Filla A, de Michele G (2006) Characterization of nigrostriatal dysfunction in spinocerbellar ataxia 17. Mov Disord 21(6):872\u2013875","journal-title":"Mov Disord"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05313-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-021-05313-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05313-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T03:39:22Z","timestamp":1631763562000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-021-05313-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,24]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["5313"],"URL":"https:\/\/doi.org\/10.1007\/s10072-021-05313-z","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,24]]},"assertion":[{"value":"2 February 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2021","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 that there are no conflicts of interest relevant to this work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}