{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:13:53Z","timestamp":1792059233789,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T00:00:00Z","timestamp":1454025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the\n                    <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                    1A3 gene (the \u03b1\u20103 subunit of the Na\n                    <jats:sup>+<\/jats:sup>\n                    \/K\n                    <jats:sup>+<\/jats:sup>\n                    <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                    ase) are associated with rapid\u2010onset dystonia\u2010parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (\n                    <jats:styled-content style=\"fixed-case\">CAPOS<\/jats:styled-content>\n                    syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy at age 20 years. In all cases, deleterious mutations were identified in\n                    <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\n                    1A3. They illustrate wide phenotypic variability, including chorea and ataxia. New cases are likely to be diagnosed as knowledge about the phenotypic spectrum expands.\n                  <\/jats:p>","DOI":"10.1002\/mdc3.12317","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T08:24:53Z","timestamp":1454055893000},"page":"402-404","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Beyond Dystonia\u2010Parkinsonism: Chorea and Ataxia with\n                    <scp>ATP<\/scp>\n                    1A3 Mutations"],"prefix":"10.1002","volume":"3","author":[{"given":"Claudio M.","family":"de Gusmao","sequence":"first","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisela","family":"Dy","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nutan","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70011-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-15"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12914"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000113"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25790"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182698d6c"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04421.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc1002112"},{"issue":"2","key":"e_1_2_6_10_1","first-page":"117","article-title":"A case of rapid\u2010onset dystonia\u2010parkinsonism (RDP) with prominent ataxia [abstract]","volume":"84","author":"Sweadner KJ","year":"2015","journal-title":"Neurology"},{"key":"e_1_2_6_11_1","unstructured":"Exome Aggregation Consortium (ExAC).ExAC Browser.Cambridge MA:ExAC;2015. Available at:http:\/\/exac.broadinstitute.org.11\/24\/2015."},{"key":"e_1_2_6_12_1","unstructured":"National Heart Lung and Blood Institute (NHLBI).NHLBI GO exome sequencing project (ESP). Exome Variant Server.Seattle WA:NHLBI;2010. Available at:http:\/\/evs.gs.washington.edu\/EVS.11\/24\/2015."},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2596"},{"key":"e_1_2_6_15_1","doi-asserted-by":"crossref","first-page":"336","DOI":"10.5334\/tohm.255","article-title":"Intermediate phenotypes of ATP1A3 mutations: phenotype\u2010genotype correlations","volume":"5","author":"Termsarasab P","year":"2015","journal-title":"Tremor Other Hyperkinet Mov (N Y)"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12317","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12317","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T18:37:05Z","timestamp":1762281425000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,29]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/mdc3.12317"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12317","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,29]]},"assertion":[{"value":"2015-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-11-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-01-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}