{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:24:51Z","timestamp":1791293091798,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2003,8,12]],"date-time":"2003-08-12T00:00:00Z","timestamp":1060646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 14\u2010year\u2010old girl, homozygous for an insertion mutation of <jats:italic>aprataxin<\/jats:italic> (<jats:italic>APTX<\/jats:italic>), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10526","type":"journal-article","created":{"date-parts":[[2003,10,6]],"date-time":"2003-10-06T03:04:21Z","timestamp":1065409461000},"page":"1198-1200","source":"Crossref","is-referenced-by-count":24,"title":["Severe generalized dystonia as a presentation of a patient with <i>aprataxin<\/i> gene mutation"],"prefix":"10.1002","volume":"18","author":[{"given":"Yoshiki","family":"Sekijima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osam","family":"Onodera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Date","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Okano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Naito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010ichi","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"1067","article-title":"A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia: a variant form of Friedreich's disease or a new clinical entity?","volume":"32","author":"Uekawa K","year":"1992","journal-title":"Clin Neurol"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00176-3"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00103-8"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000008140"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-184"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-189"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.4.590"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240404"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.2.201"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.2.463"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10526","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.10526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:27:13Z","timestamp":1760970433000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.10526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2003,10]]}},"alternative-id":["10.1002\/mds.10526"],"URL":"https:\/\/doi.org\/10.1002\/mds.10526","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]]}}}