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The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10600","type":"journal-article","created":{"date-parts":[[2004,2,17]],"date-time":"2004-02-17T04:00:27Z","timestamp":1076990427000},"page":"217-220","source":"Crossref","is-referenced-by-count":70,"title":["Focal dystonia as a presenting sign of spinocerebellar ataxia 17"],"prefix":"10.1002","volume":"19","author":[{"given":"Johann M.","family":"Hagenah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Z\u00fchlke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yorck","family":"Hellenbroich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Heide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,31]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2047"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200617"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1441"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.10.1939"},{"key":"e_1_2_8_6_2","first-page":"1182","article-title":"\u201cCryptic\u201d repeating triplets of purine and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA\u2010binding protein (TBP) genes","volume":"52","author":"Gostout B","year":"1993","journal-title":"Am J Med Genet"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360318"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.10.1495"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1999.tb00656.x"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1252"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2000.101003177.x"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1827.1997.tb04429.x"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10308"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870030410"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870050218"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.4.623"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1997.tb00894.x"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0958-7"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10514"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10600","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.10600","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:29:50Z","timestamp":1760970590000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.10600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,31]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/mds.10600"],"URL":"https:\/\/doi.org\/10.1002\/mds.10600","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,31]]}}}