{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:11:57Z","timestamp":1760983917453,"version":"build-2065373602"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,3,2]],"date-time":"2011-03-02T00:00:00Z","timestamp":1299024000000},"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":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Myoclonus\u2010dystonia (M\u2010D) is genetic and clinically heterogeneous. Identification and description of rare M\u2010D syndromes may contribute to gene identification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Here, we describe a new, autosomal dominant M\u2010D syndrome in a 3\u2010generation pedigree showing anticipation. Patients have progressive action\u2010induced multifocal dystonia and generalized myoclonus. A remarkable feature of the syndrome is action myoclonus in the lower extremities triggered by upright posture, causing instability. Electrophysiological characterization shows a 12\u2010Hz peak in the EMG autospectrum and corticomuscular and intermuscular coherences.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>A new familial M\u2010D syndrome with progressive action myoclonus and dystonia is described. \u00a9 2011 Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.23557","type":"journal-article","created":{"date-parts":[[2011,3,2]],"date-time":"2011-03-02T23:14:49Z","timestamp":1299107689000},"page":"896-900","source":"Crossref","is-referenced-by-count":9,"title":["A new familial syndrome with dystonia and lower limb action myoclonus"],"prefix":"10.1002","volume":"26","author":[{"given":"Justus","family":"Groen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Fleur","family":"van Rootselaar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra M. A.","family":"van der Salm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bastiaan R.","family":"Bloem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Tijssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,3,2]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22425"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.7.825"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(04)00880-4"},{"volume-title":"Genetics of Movement Disorders","year":"2002","author":"Klein C","key":"e_1_2_7_6_2"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/WNN.0b013e3181a7228f"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000253188.76092.06"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.162099"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.9.1213"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000066020.99191.76"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10062"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1183"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.027177"},{"key":"e_1_2_7_15_2","first-page":"211","volume-title":"Therapy with Botulinum Toxin","author":"Consky E.","year":"1994"},{"key":"e_1_2_7_16_2","first-page":"361","article-title":"The Unified Myoclonus Rating Scale","volume":"89","author":"Frucht SJ","year":"2002","journal-title":"Adv Neurol"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21519"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10121"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000260225.46732.af"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21651"},{"key":"e_1_2_7_21_2","first-page":"475","volume-title":"The Neurology of Eye Movements","author":"Leigh RJ","year":"2006"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn177"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870130321"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.5.673"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm243"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.54"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.6.1350"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0237-5"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.581"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1186802"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23557","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23557","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23557","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T08:59:40Z","timestamp":1760950780000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,2]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["10.1002\/mds.23557"],"URL":"https:\/\/doi.org\/10.1002\/mds.23557","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2011,3,2]]}}}