{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T15:17:22Z","timestamp":1779117442973,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T00:00:00Z","timestamp":1651104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["NIH NS087997"],"award-info":[{"award-number":["NIH NS087997"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["FAPESP 2014\/17128\u20102"],"award-info":[{"award-number":["FAPESP 2014\/17128\u20102"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>DYT\u2010TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT\u2010TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT\u2010TUBB4A cases reported in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases and Literature Review<\/jats:title><jats:p>The clinical picture was typically characterized by laryngeal dystonia (more than three quarters of all cases), associated with cervical dystonia, upper limb dystonia and frequent generalization. Extension of the dystonia to the lower limbs, creating the famous \u201chobby horse\u201d gait, was present in more than 20% of cases (in only one of ours). Globus pallidus pars interna (GPi) deep brain stimulation (DBS), performed in 4 cases, led to a good improvement with greatest benefit in motoric and less benefit in laryngeal symptoms. Medical treatment was generally rather poorly effective, except some benefit from propranolol, tetrabenazine and alcohol intake.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Laryngeal involvement is a hallmark of DYT\u2010TUBB4A. Symptomatic treatment with GPi\u2010DBS led to the greatest benefit in motoric symptoms. Nevertheless, <jats:italic>TUBB4A<\/jats:italic> mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia and regular screening of <jats:italic>TUBB4A<\/jats:italic> mutations for isolated dystonias has a very low yield.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13452","type":"journal-article","created":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T04:01:00Z","timestamp":1649304060000},"page":"659-675","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp>DYT\u2010TUBB4A<\/scp> (<scp>DYT4<\/scp> Dystonia): Clinical Anthology of 11 Cases and Systematized Review"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0970-8844","authenticated-orcid":false,"given":"Julien F.","family":"Bally","sequence":"first","affiliation":[{"name":"Service of Neurology, Department of Clinical Neurosciences Lausanne University Hospital and University of Lausanne  Lausanne"},{"name":"The Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital &amp; University of Toronto  Toronto Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Drew S.","family":"Kern","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Colorado School of Medicine  Aurora Colorado USA"},{"name":"Department of Neurosurgery University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8172-6094","authenticated-orcid":false,"given":"Conor","family":"Fearon","sequence":"additional","affiliation":[{"name":"The Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital &amp; University of Toronto  Toronto Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Camargos","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Universidade Federal de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Pereira da Silva\u2010Junior","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade de Sao Paulo  Sao Paulo Brazil"},{"name":"Hospital Israelita Albert Einstein  Sao Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egberto Reis","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Department of Neurology Universidade de Sao Paulo  Sao Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"de Carvalho Aguiar","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  Sao Paulo Brazil"},{"name":"Department of Neurology and Neurosurgery Universidade Federal de Sao Paulo  Sao Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"The Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital &amp; University of Toronto  Toronto Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26527"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.48.3.218"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23866"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23829"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23832"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.06.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.018"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000754"},{"issue":"2","key":"e_1_2_9_10_1","first-page":"107","article-title":"Expansion of the spectrum of TUBB4A\u2010related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene","volume":"15","author":"Blumkin L","year":"2014","journal-title":"Neurogenetics"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26196"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010882"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14602"},{"key":"e_1_2_9_14_1","first-page":"S1","article-title":"First case of bilateral pallidal stimulation for DYT4 dystonia","volume":"28","author":"Airey C","year":"2013","journal-title":"Movement Disorders"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brs.2015.01.059"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26502"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599816648293"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.27003"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13165"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13452","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13452","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:40:13Z","timestamp":1760953213000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,28]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/mdc3.13452"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13452","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,28]]},"assertion":[{"value":"2021-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}