{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:55:04Z","timestamp":1782258904791,"version":"3.54.5"},"reference-count":27,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2025,8,10]],"date-time":"2025-08-10T00:00:00Z","timestamp":1754784000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dystonia-myoclonus syndrome is a rare neurological condition characterized by involuntary muscle contractions and myoclonic jerks, significantly impairing daily functioning. Pharmacological management is often ineffective, prompting consideration of alternative therapeutic interventions such as deep brain stimulation (DBS). This report describes a novel clinical case involving a 38-year-old female with severe dystonic and myoclonic symptoms associated with a pathogenic mutation in the KCNN2 gene (DYT34). Bilateral DBS targeting the internal segment of the globus pallidus (GPi) resulted in marked and sustained symptom improvement, notably reducing dystonic posturing and myoclonic movements over the 24-month follow-up period. Neuropsychological and neurologopedic assessments revealed no adverse effects on cognition or speech. This represents the first sufficient effect of GPi-DBS in a patient with a genetically confirmed KCNN2 mutation, highlighting its potential efficacy and underscoring the need for genetic testing in patients presenting with dystonia-myoclonus syndromes.<\/jats:p>","DOI":"10.3390\/ijms26167736","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T11:02:09Z","timestamp":1754910129000},"page":"7736","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8791-7192","authenticated-orcid":false,"given":"Olga","family":"Stodulska","sequence":"first","affiliation":[{"name":"Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ul. Zwirki i Wigury 61, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4197-8518","authenticated-orcid":false,"given":"Lukasz","family":"Milanowski","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ul. Zwirki i Wigury 61, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Koziorowski","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ul. Zwirki i Wigury 61, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-0412","authenticated-orcid":false,"given":"Tomasz","family":"Mandat","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Maria Sklodowska-Curie National Research Institute of Oncology, 02-781 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4188-5901","authenticated-orcid":false,"given":"Stanislaw","family":"Szlufik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ul. Zwirki i Wigury 61, 02-091 Warsaw, Poland"},{"name":"Department of Neurosurgery, Maria Sklodowska-Curie National Research Institute of Oncology, 02-781 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S0193-953X(05)70347-6","article-title":"Dystonia and dyskinesia","volume":"20","author":"Cardoso","year":"1997","journal-title":"Psychiatr. Clin. N. Am."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.ncl.2010.03.020","article-title":"Therapeutic Challenges in Dystonia","volume":"28","author":"Kartha","year":"2010","journal-title":"Neurol. Clin."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/ane.12231","article-title":"Dystonia\u2013new advances in classification, genetics, pathophysiology and treatment","volume":"198","author":"Skogseid","year":"2014","journal-title":"Acta Neurol. Scand. Suppl."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1468-1331.2010.03042.x","article-title":"EFNS guidelines on diagnosis and treatment of primary dystonias","volume":"18","author":"Albanese","year":"2011","journal-title":"Eur. J. Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/mds.27970","article-title":"Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal\/Segmental Dystonia","volume":"35","author":"Greuel","year":"2020","journal-title":"Mov. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/mdc3.12660","article-title":"Genetic Subtypes and Deep Brain Stimulation in Dystonia","volume":"5","author":"Alterman","year":"2018","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/S0028-3843(14)60078-5","article-title":"Chronic bilateral pallidal stimulation in patients with generalized primary dystonia\u2014Multi-contact cathodal stimulation is superior to bipolar stimulation mode. Preliminary results","volume":"45","author":"Sobstyl","year":"2011","journal-title":"Neurol. I Neurochir. Pol."},{"key":"ref_8","first-page":"25","article-title":"Kwalifikacja pacjent\u00f3w z zaburzeniami ruchowymi do leczenia za pomoc\u0105 g\u0142\u0119bokiej stymulacji m\u00f3zgu","volume":"12","author":"Dulski","year":"2017","journal-title":"Neurol. Po Dyplomie. Nr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/mds.22802","article-title":"Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study","volume":"25","author":"Cif","year":"2010","journal-title":"Mov. Disord."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1111\/ene.14228","article-title":"KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia","volume":"27","author":"Balint","year":"2020","journal-title":"Eur. J. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3564","DOI":"10.1093\/brain\/awaa346","article-title":"Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders","volume":"143","author":"Mochel","year":"2020","journal-title":"Brain"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"d\u2019Apolito, M., Ceccarini, C., Savino, R., Adipietro, I., di Bari, I., Santacroce, R., Curcetti, M., D\u2019Andrea, G., Croce, A.-I., and Cesarano, C. (2023). A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis. Genes, 14.","DOI":"10.3390\/genes14071380"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1097\/WNR.0000000000000754","article-title":"Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms","volume":"28","author":"Raghuram","year":"2017","journal-title":"Neuroreport"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding \u03b5-sarcoglycan cause myoclonus\u2013dystonia syndrome","volume":"29","author":"Zimprich","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1212\/WNL.59.8.1183","article-title":"A novel locus for inherited myoclonus-dystonia on 18p11","volume":"59","author":"Grimes","year":"2002","journal-title":"Neurology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"107260","DOI":"10.1016\/j.parkreldis.2025.107260","article-title":"Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia","volume":"131","author":"Pauly","year":"2025","journal-title":"Park. Relat. Disord."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"369","DOI":"10.5334\/tohm.290","article-title":"Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation","volume":"6","author":"Ramdhani","year":"2016","journal-title":"Tremor Other Hyperkinetic Mov."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1007\/s00701-016-2904-3","article-title":"Bilateral pallidal deep brain stimulation in myoclonus-dystonia: Our experience in three cases and their follow-up","volume":"158","author":"Sesar","year":"2016","journal-title":"Acta Neurochir."},{"key":"ref_19","first-page":"94","article-title":"Bilateral Deep Brain Stimulation of the Pallidum for Myoclonus-Dystonia Due to \u03b5-Sarcoglycan Mutations: A Pilot Study","volume":"68","author":"Roze","year":"2011","journal-title":"Arch. Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e933","DOI":"10.1016\/j.wneu.2018.10.177","article-title":"Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up","volume":"122","author":"Zhang","year":"2019","journal-title":"World Neurosurg."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1002\/mds.23312","article-title":"Pallidal and thalamic deep brain stimulation in myoclonus-dystonia","volume":"25","author":"Gruber","year":"2010","journal-title":"Mov. Disord."},{"key":"ref_22","first-page":"139","article-title":"Deep brain stimulation in a case of mitochondrial disease","volume":"3","author":"Hack","year":"2015","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2948","DOI":"10.1007\/s00415-024-12334-z","article-title":"Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations","volume":"271","author":"Ikezawa","year":"2024","journal-title":"J. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s10143-019-01233-x","article-title":"Deep brain stimulation for myoclonus dystonia syndrome: A meta-analysis with individual patient data","volume":"44","author":"Wang","year":"2021","journal-title":"Neurosurg. Rev."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1002\/mds.25550","article-title":"What\u2019s new in surgical treatment for dystonia?","volume":"28","author":"Moro","year":"2013","journal-title":"Mov. Disord."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1002\/mds.25244","article-title":"The prevalence of primary dystonia: A systematic review and meta-analysis","volume":"27","author":"Steeves","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/mds.27474","article-title":"Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment","volume":"34","author":"Kosutzka","year":"2019","journal-title":"Mov. 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