{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:45:45Z","timestamp":1791027945466,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,9,9]],"date-time":"2002-09-09T00:00:00Z","timestamp":1031529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Eugene Brehm bequest"},{"DOI":"10.13039\/501100007639","name":"Maire Taposen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007639","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Suomen Parkinson S\u00e4\u00e4ti\u00f6"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2003,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 5 cases with a rare combination of young\u2010onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom was cervical dystonia and\/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and\/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first\u2010degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first\u2010degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young\u2010onset spinocerebellar ataxia. \u00a9 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10308","type":"journal-article","created":{"date-parts":[[2003,1,22]],"date-time":"2003-01-22T17:16:26Z","timestamp":1043255786000},"page":"200-206","source":"Crossref","is-referenced-by-count":31,"title":["Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?"],"prefix":"10.1002","volume":"18","author":[{"given":"Mikko","family":"Kuoppam\u00e4ki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Giunti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niall","family":"Quinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas W.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,9,9]]},"reference":[{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870030410"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870050218"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02342455"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.3.287"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360318"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1999.tb00656.x"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2000.101003177.x"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.3.299"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.10.1495"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390411"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1252"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870070302"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050465"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.4.547"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.5.702"},{"key":"e_1_2_10_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150070094"},{"key":"e_1_2_10_18_2","first-page":"361","article-title":"Epidemiology of dystonia in Rochester, Minnesota","volume":"50","author":"Nutt JG","year":"1988","journal-title":"Adv Neurol"},{"key":"e_1_2_10_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.4.589"},{"key":"e_1_2_10_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.9.1237"},{"key":"e_1_2_10_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.7.1125"},{"key":"e_1_2_10_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.5.673"},{"key":"e_1_2_10_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870130321"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10308","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.10308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:59:35Z","timestamp":1760961575000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.10308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,9]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["10.1002\/mds.10308"],"URL":"https:\/\/doi.org\/10.1002\/mds.10308","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,9]]}}}