{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T20:32:26Z","timestamp":1767904346783,"version":"3.49.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,8]],"date-time":"2016-11-08T00:00:00Z","timestamp":1478563200000},"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":[[2017,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Dystonia\u2010deafness syndrome is a distinct clinical presentation within the dystonia\u2010spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe two patients with dystonia\u2010deafness syndrome due to a beta\u2010actin gene mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia\u2010deafness syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After exclusion of known dystonia\u2010deafness syndrome causes, whole\u2010exome sequencing revealed a beta\u2010actin gene mutation (p.Arg183Trp) in both patients. Although beta\u2010actin gene mutations are generally associated with developmental Baraitser\u2010Winter syndrome, dystonia\u2010deafness syndrome has been reported once in identical twin brothers. Bilateral GPi\u2010DBS led to a significant decrease of dystonia and regain of independency in our patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The p.Arg183Trp mutation in the beta\u2010actin gene is associated with the clinical presentation of dystonia\u2010deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser\u2010Winter syndrome. GPi\u2010DBS should be considered to ameliorate the invalidating dystonia in these patients. \u00a9 2016 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26842","type":"journal-article","created":{"date-parts":[[2016,11,8]],"date-time":"2016-11-08T07:26:31Z","timestamp":1478589991000},"page":"162-165","source":"Crossref","is-referenced-by-count":17,"title":["Dystonia\u2010deafness syndrome caused by a \u03b2\u2010actin gene mutation and response to deep brain stimulation"],"prefix":"10.1002","volume":"32","author":[{"given":"Hendriekje","family":"Eggink","sequence":"first","affiliation":[{"name":"Department of Neurology University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martje E.","family":"van Egmond","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corien C.","family":"Verschuuren\u2010Bemelmans","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marleen C.","family":"Sch\u00f6nherr","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.L. Marinus","family":"Oterdoom","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Marc C.","family":"van Dijk","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina A.J.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25394"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309106"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22450"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.41"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.95"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/504271"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301714"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22317"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25519"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26842","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26842","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.26842","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:45:45Z","timestamp":1760964345000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.26842"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,8]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1002\/mds.26842"],"URL":"https:\/\/doi.org\/10.1002\/mds.26842","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,8]]}}}