{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:28:12Z","timestamp":1790504892318,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,8,23]],"date-time":"2012-08-23T00:00:00Z","timestamp":1345680000000},"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>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The first gene causing early\u2010onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the\n                      <jats:italic>SLC30A10<\/jats:italic>\n                      gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We present 10\u2010year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in\n                      <jats:italic>SLC30A10<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The patient presented with early\u2010onset generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole\u2010blood manganese levels. T1\u2010sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis. \u00a9 2012 Movement Disorder Society<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.25138","type":"journal-article","created":{"date-parts":[[2012,8,23]],"date-time":"2012-08-23T11:43:12Z","timestamp":1345722192000},"page":"1317-1322","source":"Crossref","is-referenced-by-count":115,"title":["Dystonia with brain manganese accumulation resulting from\n                    <i>SLC30A10<\/i>\n                    mutations: A new treatable disorder"],"prefix":"10.1002","volume":"27","author":[{"given":"Maria","family":"Stamelou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Tuschl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. 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