{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T09:50:32Z","timestamp":1767174632355,"version":"build-2238731810"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100019214","name":"l\u00e9ka\u0159sk\u00e1 fakulta Univerzity Karlovy","doi-asserted-by":"publisher","award":["825575"],"award-info":[{"award-number":["825575"]}],"id":[{"id":"10.13039\/100019214","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Jessenius Faculty of Medicine","award":["313011W875"],"award-info":[{"award-number":["313011W875"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the\n                      <jats:italic>THAP1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G&gt;A (p.Cys5Tyr) mutation in the\n                      <jats:italic>THAP1<\/jats:italic>\n                      \u00a0gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12883-022-02871-3","type":"journal-article","created":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T05:02:57Z","timestamp":1662958977000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"M.","family":"Grofik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cibulka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Olek\u0161\u00e1kov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tur\u010danov\u00e1 Kopru\u0161\u00e1kov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Galanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Necp\u00e1l","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Jungov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kur\u010da","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Winkelmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Jech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,9,12]]},"reference":[{"key":"2871_CR1","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/ng.304","volume":"41","author":"T Fuchs","year":"2009","unstructured":"Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009;41:286\u20138.","journal-title":"Nat Genet."},{"key":"2871_CR2","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1002\/humu.21564","volume":"32","author":"A Blanchard","year":"2011","unstructured":"Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, et al. DYT6 dystonia: review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011;32:1213\u201324.","journal-title":"Hum Mutat."},{"key":"2871_CR3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/s41572-018-0023-6","volume":"4","author":"B Balint","year":"2018","unstructured":"Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, et al. Dystonia Nat Rev Dis Primers. 2018;4:25.","journal-title":"Dystonia. Nat Rev Dis Primers."},{"key":"2871_CR4","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/S1474-4422(20)30312-4","volume":"19","author":"M Zech","year":"2020","unstructured":"Zech M, Jech R, Boesch S, \u0160korv\u00e1nek M, Weber S, Wagner M, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020;19:908\u201318.","journal-title":"Lancet Neurol."},{"key":"2871_CR5","doi-asserted-by":"publisher","first-page":"6907","DOI":"10.1073\/pnas.0406882102","volume":"102","author":"T Clouaire","year":"2005","unstructured":"Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci U S A. 2005;102:6907\u201312.","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2871_CR6","doi-asserted-by":"publisher","first-page":"4352","DOI":"10.1074\/jbc.M707537200","volume":"283","author":"D Bessi\u00e8re","year":"2008","unstructured":"Bessi\u00e8re D, Lacroix C, Campagne S, Ecochard V, Guillet V, Mourey L, et al. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb\/E2F pathways. J Biol Chem. 2008;283:4352\u201363.","journal-title":"J Biol Chem."},{"key":"2871_CR7","doi-asserted-by":"publisher","first-page":"630391","DOI":"10.3389\/fneur.2020.630391","volume":"11","author":"S Tisch","year":"2020","unstructured":"Tisch S, Kumar KR. Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome. Front Neurol. 2020;11:630391.","journal-title":"Front Neurol"},{"key":"2871_CR8","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1212\/WNL.0000000000001312","volume":"84","author":"N Br\u00fcggemann","year":"2015","unstructured":"Br\u00fcggemann N, K\u00fchn A, Schneider SA, Kamm C, Wolters A, Krause P, et al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015;84:895\u2013903.","journal-title":"Neurology."},{"key":"2871_CR9","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1136\/jnnp-2011-300979","volume":"83","author":"F Panov","year":"2012","unstructured":"Panov F, Tagliati M, Ozelius LJ, Fuchs T, Gologorsky Y, Cheung T, et al. Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry. 2012;83:182\u20137.","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"2871_CR10","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/mds.23599","volume":"26","author":"R Jech","year":"2011","unstructured":"Jech R, Bare\u0161 M, K\u0159epelov\u00e1 A, Urgo\u0161\u00edk D, Havr\u00e1nkov\u00e1 P, R\u016f\u017ei\u010dka E. DYT 6\u2013a novel THAP1 mutation with excellent effect on pallidal DBS. Mov Disord. 2011;26:924\u20135.","journal-title":"Mov Disord."},{"key":"2871_CR11","doi-asserted-by":"publisher","first-page":"2420","DOI":"10.1002\/mds.23285","volume":"25","author":"JL Groen","year":"2010","unstructured":"Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord. 2010;25:2420\u20137.","journal-title":"Mov Disord."},{"key":"2871_CR12","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.wneu.2017.05.075","volume":"104","author":"CK Park","year":"2017","unstructured":"Park CK, Jung NY, Kim M, Chang JW. Analysis of delayed intracerebral hemorrhage associated with deep brain stimulation surgery. World Neurosurg. 2017;104:537\u201344.","journal-title":"World Neurosurg."},{"key":"2871_CR13","doi-asserted-by":"crossref","unstructured":"Doshi PK, Rai N, Das D. Surgical and hardware complications of deep brain stimulation-a single surgeon experience of 519 cases over 20\u2009years. Neuromodulation. 2021;25:895\u2013903.","DOI":"10.1111\/ner.13360"},{"key":"2871_CR14","doi-asserted-by":"crossref","unstructured":"Atchley TJ, Elsayed GA, Sowers B, Walker HC, Chagoya G, Davis MC, et al. Incidence and risk factors for seizures associated with deep brain stimulation surgery. J Neurosurg. 2020;7:1\u20135.","DOI":"10.1093\/neuros\/nyaa447_618"}],"updated-by":[{"DOI":"10.1186\/s12883-022-02931-8","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000}}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-022-02871-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-022-02871-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-022-02871-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T05:03:13Z","timestamp":1667451793000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-022-02871-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,12]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2871"],"URL":"https:\/\/doi.org\/10.1186\/s12883-022-02871-3","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,12]]},"assertion":[{"value":"3 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 November 2022","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s12883-022-02931-8","URL":"https:\/\/doi.org\/10.1186\/s12883-022-02931-8","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Herewith we declare, that our clinical case report has been prepared in agreement with the Declaration of Helsinki and national legislative of Slovak republic Act No 576\/2004 Coll. Written informed consent was obtained from the patient and family members to participate in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from all participating family members for publication of this Case report. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests. The authors alone are responsible for the content and writing of the paper.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"344"}}