{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:46:11Z","timestamp":1760985971031,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in <jats:italic>TUBB4A<\/jats:italic> are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT\u2010<jats:italic>TUBB4A<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the case of a 44\u2010year\u2010old patient with DYT\u2010<jats:italic>TUBB4A<\/jats:italic> with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke\u2013Fahn\u2212Marsden scale score 6\u00a0months after surgery. The effect was obvious on the cervical and facial components of dystonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to <jats:italic>TUBB4A<\/jats:italic> variants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14602","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T09:51:21Z","timestamp":1603273881000},"page":"1082-1083","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Whispering dysphonia in <i>TUBB4A<\/i>\u2010related disorders responsive to bipallidal deep brain stimulation"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5838-9077","authenticated-orcid":false,"given":"C\u00e9cile","family":"Delorme","sequence":"first","affiliation":[{"name":"D\u00e9partement de Neurologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP Paris France"},{"name":"Facult\u00e9 de M\u00e9decine de Sorbonne Universit\u00e9 UMR S 1127 Inserm U 1127, and CNRS UMR 7225 Institut du Cerveau et de la Mo\u00eblle Epini\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP Paris France"},{"name":"Facult\u00e9 de M\u00e9decine de Sorbonne Universit\u00e9 UMR S 1127 Inserm U 1127, and CNRS UMR 7225 Institut du Cerveau et de la Mo\u00eblle Epini\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Karachi","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sorbonne Universit\u00e9 UMR S 1127 Inserm U 1127, and CNRS UMR 7225 Institut du Cerveau et de la Mo\u00eblle Epini\u00e8re Paris France"},{"name":"Service 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