{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T12:07:00Z","timestamp":1789214820033,"version":"build-2803163510"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100000276","name":"UK Department of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"NIHR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Biomedical Research Centre award to Guy's and St. Thomas'"},{"name":"National Health Service"},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Comprehensive Clinical Research Network"},{"name":"NHS"},{"DOI":"10.13039\/501100003921","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung and Blood Institute","doi-asserted-by":"crossref","award":["HG006493"],"award-info":[{"award-number":["HG006493"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5\u201337.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden\u2019s Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, &amp;gt;50% of subjects showed BFMDRS-M and BFMDRS-D improvements of &amp;gt;30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for &amp;gt;5 years, n = 8), improvement of &amp;gt;30% was maintained in 5\/8 and 3\/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.<\/jats:p>","DOI":"10.1093\/brain\/awaa304","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T19:27:22Z","timestamp":1598297242000},"page":"3242-3261","source":"Crossref","is-referenced-by-count":108,"title":["<i>KMT2B<\/i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation"],"prefix":"10.1093","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3188-3788","authenticated-orcid":false,"given":"Laura","family":"Cif","sequence":"first","affiliation":[{"name":"D\u00e9partement de Neurochirurgie, Unit\u00e9 des Pathologies C\u00e9r\u00e9brales R\u00e9sistantes, Unit\u00e9 de Recherche sur les Comportements et Mouvements Anormaux, H\u00f4pital Gui de Chauliac, Centre Hospitalier R\u00e9gional Montpellier, Montpellier, France"},{"name":"Facult\u00e9 de m\u00e9decine, Universit\u00e9 de Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Demailly","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurochirurgie, Unit\u00e9 des Pathologies C\u00e9r\u00e9brales R\u00e9sistantes, Unit\u00e9 de Recherche sur les Comportements et Mouvements Anormaux, H\u00f4pital Gui de Chauliac, Centre Hospitalier R\u00e9gional Montpellier, Montpellier, France"},{"name":"Facult\u00e9 de m\u00e9decine, Universit\u00e9 de Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Lin","sequence":"additional","affiliation":[{"name":"Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK"},{"name":"Children\u2019s Neuromodulation Group, Women and Children\u2019s Health Institute, Faculty of life Sciences and Medicine (FOLSM), King\u2019s Health Partners, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy E","family":"Barwick","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Sa","sequence":"additional","affiliation":[{"name":"Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Abela","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sony","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wui K","family":"Chong","sequence":"additional","affiliation":[{"name":"Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK"},{"name":"Department of Neurology, Great Ormond Street Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Sanchis-Juan","sequence":"additional","affiliation":[{"name":"NIHR 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L","family":"Fieg","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent L","family":"Fogel","sequence":"additional","affiliation":[{"name":"Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA"},{"name":"Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva B","family":"Forman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6265-2256","authenticated-orcid":false,"given":"Rachel 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