{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T04:13:12Z","timestamp":1769314392555,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T00:00:00Z","timestamp":1341532800000},"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":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Thiamine transporter\u20102 deficiency, a condition resulting from mutations in the <jats:italic>SLC19A3<\/jats:italic> gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin\u2010responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's\u2010like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and\/or thiamine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Two Spanish siblings with a biotin\u2010responsive basal ganglia disease phenotype and mutations in <jats:italic>SLC19A3<\/jats:italic> presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>The clinical features resolved rapidly after thiamine administration.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Despite the rarity of thiamine transporter\u20132 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes. \u00a9 2012 Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25008","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T08:01:56Z","timestamp":1341561716000},"page":"1295-1298","source":"Crossref","is-referenced-by-count":37,"title":["Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency"],"prefix":"10.1002","volume":"27","author":[{"given":"Mercedes","family":"Serrano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Rebollo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"Rastetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Fern\u00e1ndez\u2010\u00c1lvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Muchart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 A.","family":"Obeso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez\u2010Due\u00f1as","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,6]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/431216"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.7.1267"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.293"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0809100"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-171"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00105.2006"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2008.05.003"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.25008","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.25008","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.25008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:29:52Z","timestamp":1760959792000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.25008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,6]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1002\/mds.25008"],"URL":"https:\/\/doi.org\/10.1002\/mds.25008","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,6]]}}}