{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:27:31Z","timestamp":1761006451319,"version":"build-2065373602"},"reference-count":12,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,8,13]],"date-time":"2008-08-13T00:00:00Z","timestamp":1218585600000},"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":[[2008,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inherited myoclonus dystonia (M\u2010D, DYT11) is an autosomal dominant dystonia\u2010plus syndrome, which in many families is caused by mutations in the SGCE\/ (epsilon\u2010sarcoglycan gene. We present a family with M\u2010D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult\u2010onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol\u2010sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. \u00a9 2008 Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.21935","type":"journal-article","created":{"date-parts":[[2008,8,13]],"date-time":"2008-08-13T16:09:01Z","timestamp":1218643741000},"page":"1913-1915","source":"Crossref","is-referenced-by-count":13,"title":["Unusual familial presentation of epsilon\u2010sarcoglycan gene mutation with falls and writer's cramp"],"prefix":"10.1002","volume":"23","author":[{"given":"Vasiliki","family":"Koukouni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Cordivari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niall P.","family":"Quinn,","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,27]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110202"},{"key":"e_1_2_4_3_2","first-page":"391","article-title":"Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion","volume":"50","author":"Quinn NP","year":"1988","journal-title":"Adv Neurol"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10476"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.242"},{"key":"e_1_2_4_8_2","first-page":"113","article-title":"Inherited myoclonus\u2010dystonia","volume":"94","author":"Asmus F","year":"2004","journal-title":"Adv Neurol"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000151979.68010.9B"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201192.66467.a3"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.9.1213"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200938"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1187"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21935","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21935","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T08:52:16Z","timestamp":1760950336000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21935"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,15]]},"references-count":12,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2008,10,15]]}},"alternative-id":["10.1002\/mds.21935"],"URL":"https:\/\/doi.org\/10.1002\/mds.21935","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2008,10,15]]}}}