{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T15:48:28Z","timestamp":1784908108066,"version":"3.55.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:00:00Z","timestamp":1641686400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:00:00Z","timestamp":1641686400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The globus pallidus internus is the main target for the treatment of dystonia by deep brain stimulation. Unfortunately, for some genetic etiologies, the therapeutic outcome of dystonia is less predictable. In particular, therapeutic outcomes for deep brain stimulation in craniocervical and orolaryngeal dystonia in DYT6-positive patients are poor. Little is known about the neurophysiology of the globus pallidus internus in DYT6-positive dystonia, and how symptomatic treatment affects the neural activity of this region.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present here the case of a 55-year-old Caucasian female DYT6-dystonic patient with blepharospasm, spasmodic dysphonia, and oromandibular dystonia where single-unit and local field potential activity was recorded from the globus pallidus internus during two deep brain stimulation revision surgeries 4\u00a0years apart with no symptomatic improvement. Botulinum toxin injections consistently improved dysphonia, while some of the other symptoms were only inconsistently or marginally improved. Neural activity in the globus pallidus internus during both revision surgeries were compared with previously published results from an idiopathic dystonic cohort. Single-cell firing characteristics and local field potential from the first revision surgery showed no differences with our control group. However, during the second revision surgery, the mean firing rate of single units and local field potential power in the gamma range were lower than those present during the first revision surgery or the control group.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Symptoms related to facial movements were greatly improved by botulinum toxin treatment between revision surgeries, which coincided with lower discharge rate and changes in gamma local field oscillations.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-03215-4","type":"journal-article","created":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:02:42Z","timestamp":1641686562000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1835-2082","authenticated-orcid":false,"given":"Andrea","family":"Giorni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Coyne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.","family":"Silburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George D.","family":"Mellick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Sah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5341-2197","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Windels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,9]]},"reference":[{"issue":"2","key":"3215_CR1","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.nbd.2011.01.012","volume":"42","author":"DG Standaert","year":"2011","unstructured":"Standaert DG. Update on the pathology of dystonia. Neurobiol Dis. 2011;42(2):148\u201351.","journal-title":"Neurobiol Dis"},{"issue":"8","key":"3215_CR2","doi-asserted-by":"publisher","first-page":"2005","DOI":"10.1093\/brain\/awp172","volume":"132","author":"U M\u00fcller","year":"2009","unstructured":"M\u00fcller U. The monogenic primary dystonias. Brain. 2009;132(8):2005\u201325.","journal-title":"Brain"},{"issue":"7","key":"3215_CR3","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1002\/mds.25532","volume":"28","author":"A Quartarone","year":"2013","unstructured":"Quartarone A, Hallett M. Emerging concepts in the physiological basis of dystonia. Mov Disord. 2013;28(7):958\u201367.","journal-title":"Mov Disord"},{"issue":"2","key":"3215_CR4","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.nbd.2011.01.026","volume":"42","author":"VK Neychev","year":"2011","unstructured":"Neychev VK, Gross RE, Leh\u00e9ricy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011;42(2):185\u2013201.","journal-title":"Neurobiol Dis"},{"key":"3215_CR5","doi-asserted-by":"publisher","first-page":"650586","DOI":"10.3389\/fcell.2021.650586","volume":"9","author":"S Staege","year":"2021","unstructured":"Staege S, Kutschenko A, Baumann H, Gla\u00df H, Henkel L, Gschwendtberger T, et\u00a0al. Reduced expression of GABAA receptor Alpha2 subunit is associated with disinhibition of DYT-THAP1 dystonia patient-derived striatal medium spiny neurons. Front Cell Dev Biol. 2021;9:650586.","journal-title":"Front Cell Dev Biol."},{"issue":"1","key":"3215_CR6","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1016\/j.neuroscience.2008.12.041","volume":"164","author":"M Carbon","year":"2009","unstructured":"Carbon M, Eidelberg D. Abnormal structure\u2013function relationships in hereditary dystonia. Neuroscience. 2009;164(1):220\u20139.","journal-title":"Neuroscience"},{"issue":"2","key":"3215_CR7","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\u00a0al. Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry. 2012;83(2):182.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"14","key":"3215_CR8","doi-asserted-by":"publisher","first-page":"2405","DOI":"10.1002\/mds.23279","volume":"25","author":"S Zittel","year":"2010","unstructured":"Zittel S, Moll CKE, Br\u00fcggemann N, Tadic V, Hamel W, Kasten M, et\u00a0al. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord. 2010;25(14):2405\u201312.","journal-title":"Mov Disord"},{"issue":"9","key":"3215_CR9","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\u00a0al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015;84(9):895\u2013903.","journal-title":"Neurology"},{"issue":"12","key":"3215_CR10","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.3390\/jcm8122163","volume":"8","author":"A Danielsson","year":"2019","unstructured":"Danielsson A, Carecchio M, Cif L, Koy A, Lin J-P, Solders G, et\u00a0al. Pallidal deep brain stimulation in DYT6 dystonia: clinical outcome and predictive factors for motor improvement. J Clin Med. 2019;8(12):2163.","journal-title":"J Clin Med"},{"issue":"12","key":"3215_CR11","doi-asserted-by":"publisher","first-page":"2510","DOI":"10.1016\/j.clinph.2017.10.003","volume":"128","author":"A Giorni","year":"2017","unstructured":"Giorni A, Windels F, Stratton PG, Cook R, Silberstein P, Coyne T, et\u00a0al. Single-unit activity of the anterior globus pallidus internus in Tourette patients and posterior globus pallidus internus in dystonic patients. Clin Neurophysiol. 2017;128(12):2510\u20138.","journal-title":"Clin Neurophysiol"},{"issue":"12","key":"3215_CR12","doi-asserted-by":"publisher","first-page":"1752","DOI":"10.1002\/mds.25479","volume":"28","author":"J Newman","year":"2013","unstructured":"Newman J, Lehn AC, Boyle RS, Silburn PA, Mellick GD. Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort. Mov Disord. 2013;28(12):1752\u20133.","journal-title":"Mov Disord"},{"issue":"5","key":"3215_CR13","doi-asserted-by":"publisher","first-page":"1386","DOI":"10.1093\/brain\/awz046","volume":"142","author":"MM Reich","year":"2019","unstructured":"Reich MM, Horn A, Lange F, Roothans J, Paschen S, Runge J, et\u00a0al. Probabilistic mapping of the antidystonic effect of pallidal neurostimulation: a multicentre imaging study. Brain. 2019;142(5):1386\u201398.","journal-title":"Brain"},{"issue":"3","key":"3215_CR14","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1038\/nn.3642","volume":"17","author":"TL Tattersall","year":"2014","unstructured":"Tattersall TL, Stratton PG, Coyne TJ, Cook R, Silberstein P, Silburn PA, et\u00a0al. Imagined gait modulates neuronal network dynamics in the human pedunculopontine nucleus. Nat Neurosci. 2014;17(3):449\u201354.","journal-title":"Nat Neurosci"},{"key":"3215_CR15","doi-asserted-by":"publisher","first-page":"410","DOI":"10.3389\/fneur.2019.00410","volume":"10","author":"T Koeglsperger","year":"2019","unstructured":"Koeglsperger T, Palleis C, Hell F, Mehrkens JH, B\u00f6tzel K. Deep brain stimulation programming for movement disorders: current concepts and evidence-based strategies. Front Neurol. 2019;10:410.","journal-title":"Front Neurol"},{"key":"3215_CR16","first-page":"22","volume":"4","author":"PE Holtzheimer","year":"2012","unstructured":"Holtzheimer PE, Mayberg HS. Neuromodulation for treatment-resistant depression. Med Rep. 2012;4:22.","journal-title":"Med Rep"},{"issue":"5","key":"3215_CR17","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1007\/s00702-014-1277-0","volume":"122","author":"M Alam","year":"2015","unstructured":"Alam M, Schwabe K, L\u00fctjens G, Capelle HH, Manu M, von Wrangel C, et\u00a0al. Comparative characterization of single cell activity in the globus pallidus internus of patients with dystonia or Tourette syndrome. J Neural Transm. 2015;122(5):687\u201399.","journal-title":"J Neural Transm"},{"issue":"1","key":"3215_CR18","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\u00a0al. Dystonia. Nat Rev Dis Primers. 2018;4(1):25.","journal-title":"Nat Rev Dis Primers"},{"issue":"12","key":"3215_CR19","doi-asserted-by":"publisher","first-page":"2597","DOI":"10.1093\/brain\/awg267","volume":"126","author":"P Silberstein","year":"2003","unstructured":"Silberstein P, K\u00fchn AA, Kupsch A, Trottenberg T, Krauss JK, W\u00f6hrle JC, et\u00a0al. Patterning of globus pallidus local field potentials differs between Parkinson\u2019s disease and dystonia. Brain. 2003;126(12):2597\u2013608.","journal-title":"Brain"},{"issue":"2","key":"3215_CR20","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1093\/brain\/awm324","volume":"131","author":"A Sharott","year":"2008","unstructured":"Sharott A, Grosse P, K\u00fchn AA, Salih F, Engel AK, Kupsch A, et\u00a0al. Is the synchronization between pallidal and muscle activity in primary dystonia due to peripheral afferance or a motor drive? Brain. 2008;131(2):473\u201384.","journal-title":"Brain"},{"issue":"6","key":"3215_CR21","doi-asserted-by":"publisher","first-page":"1562","DOI":"10.1093\/brain\/awn083","volume":"131","author":"X Liu","year":"2008","unstructured":"Liu X, Wang S, Yianni J, Nandi D, Bain PG, Gregory R, et\u00a0al. The sensory and motor representation of synchronized oscillations in the globus pallidus in patients with primary dystonia. Brain. 2008;131(6):1562\u201373.","journal-title":"Brain"},{"issue":"4","key":"3215_CR22","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1002\/mus.22104","volume":"44","author":"ME Habeych","year":"2011","unstructured":"Habeych ME, Shah AC, Nikonow TN, Balzer JR, Crammond DJ, Thirumala PD, et\u00a0al. Effect of botulinum neurotoxin treatment in the lateral spread monitoring of microvascular decompression for hemifacial spasm. Muscle Nerve. 2011;44(4):518\u201324.","journal-title":"Muscle Nerve"},{"issue":"1\u20132","key":"3215_CR23","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.jns.2011.03.040","volume":"306","author":"R Opavsk\u00fd","year":"2011","unstructured":"Opavsk\u00fd R, Hlu\u0161t\u00edk P, Otruba P, Ka\u0148ovsk\u00fd P. Sensorimotor network in cervical dystonia and the effect of botulinum toxin treatment: a functional MRI study. J Neurol Sci. 2011;306(1\u20132):71\u20135.","journal-title":"J Neurol Sci"},{"issue":"1","key":"3215_CR24","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1007\/s00429-013-0671-y","volume":"220","author":"CC Delnooz","year":"2015","unstructured":"Delnooz CC, Pasman JW, Beckmann CF, van de Warrenburg BP. Altered striatal and pallidal connectivity in cervical dystonia. Brain Struct Funct. 2015;220(1):513\u201323.","journal-title":"Brain Struct Funct"},{"issue":"5","key":"3215_CR25","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1017\/cjn.2019.41","volume":"46","author":"D Soh","year":"2019","unstructured":"Soh D, Fasano A. Incobotulinumtoxin A and deep brain stimulation. Can J Neurol Sci J Can Des Sci Neurologiques. 2019;46(5):603\u20136.","journal-title":"Can J Neurol Sci J Can Des Sci Neurologiques."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03215-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-03215-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03215-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:03:33Z","timestamp":1641686613000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-03215-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,9]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3215"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-03215-4","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,9]]},"assertion":[{"value":"3 February 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the University of Queensland ethics committee, ethics numbers 2011001012 and 201618196. The participant gave written consent 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 the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15"}}