{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T19:47:45Z","timestamp":1775504865681,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,7,19]],"date-time":"2006-07-19T00:00:00Z","timestamp":1153267200000},"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":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine\u2010unresponsive cystathionine \u03b2\u2010synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur\u2010containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria. \u00a9 2006 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21045","type":"journal-article","created":{"date-parts":[[2006,7,19]],"date-time":"2006-07-19T15:20:18Z","timestamp":1153322418000},"page":"1780-1782","source":"Crossref","is-referenced-by-count":16,"title":["Recurrent dystonia in homocystinuria: A metabolic pathogenesis"],"prefix":"10.1002","volume":"21","author":[{"given":"Alex J.","family":"Sinclair","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Barling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Nightingale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,19]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.146.3645.785"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K"},{"key":"e_1_2_5_4_2","first-page":"1","article-title":"The natural history of homocystinuria due to cystathionine beta\u2010synthase deficiency","volume":"37","author":"Mudd SH","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870060213"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091823"},{"key":"e_1_2_5_7_2","first-page":"629","article-title":"Homocystinuria with generalized chorea and other movement disorders: a case report","volume":"52","author":"Wada Y","year":"2000","journal-title":"No To Shinkei"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.46.3.283"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015684912709"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20062"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015594111778"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021670607647"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00019-X"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025551031767"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1023815119931"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-0186(02)00230-9"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.8.920"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21045","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:28:11Z","timestamp":1760966891000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,19]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1002\/mds.21045"],"URL":"https:\/\/doi.org\/10.1002\/mds.21045","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,19]]}}}