Brain

, volume 143 , issue 11 , pages 3242-3261

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif ^{1, 2}

Diane Demailly ^{1, 2}

Jean-Pierre Lin ^{3, 4}

Katy E Barwick ⁵

Mário Sá ³

Lucia Abela ⁵

Sony Malhotra ⁶

WUI K. CHONG ⁷

Dora Steel ^{5, 8}

Alba Sanchis-Juan ^{9, 10}

Adeline Ngoh ^{5, 8}

Natalie Trump ⁵

ESTHER MEYER ⁵

Xavier Vasques ¹¹

Julia Rankin ¹²

Meredith W Allain ¹³

Carolyn D. Applegate ¹⁴

Sanaz Attaripour Isfahani ¹⁵

Julien Baleine ¹⁶

Bettina Balint ^{17, 18}

Jennifer A. Bassetti ¹⁹

Emma L. Baple ^{12, 20}

Kailash P. Bhatia ¹⁷

Catherine Blanchet ²¹

Lydie Burglen ²²

Gilles Cambonie ¹⁶

Emilie Chan Seng ^{1, 2}

Sandra Chantot Bastaraud ²³

Fabienne Cyprien ^{1, 2}

Christine Coubes ²⁴

Vincent Dhardemare ²³

Asif Doja ²⁵

Nathalie Dorison ²³

Diane Doummar ²⁶

Marisela E Dy Hollins ^{27, 28}

Ellyn Farrelly ^{13, 29}

David R FitzPatrick ³⁰

Conor Fearon ³¹

Elizabeth L. Fieg ³²

Brent L. Fogel ^{33, 34}

Eva B Forman ³⁵

Rachel Fox ³⁶

William A. Gahl ³⁷

Serena Galosi ³⁸

Victoria González ^{1, 2}

Tracey D Graves ³⁹

Allison Gregory ³⁶

Mark Hallett ¹⁵

Harutomo Hasegawa ^{3, 4}

Susan J. Hayflick ^{36, 40}

Ada Hamosh ¹⁴

Marie Hully ⁴¹

Sandra Jansen ⁴²

Suh Young Jeong ³⁶

Joel B. Krier ³²

Sidney Krystal ⁴³

Kishore Kumar ^{44, 45, 46}

Chloé Laurencin ⁴⁷

Hane Lee ^{34, 48}

Gaetan Lesca ⁴⁹

Laurence Lion François ⁵⁰

Timothy Lynch ^{31, 51}

Neil Mahant ⁵²

Julian A. Martínez-Agosto ^{34, 53}

Christophe Milesi ¹⁶

Kelly A. Mills ⁵⁴

Michel Mondain ²¹

Hugo Morales Briceño ^{52, 55}

John R Ostergaard ⁵⁶

Swasti Pal ⁵⁷

Juan C Pallais ³²

Frédérique Pavillard ⁵⁸

Pierre-François Perrigault ⁵⁸

Andrea K Petersen ⁵⁹

Gustavo Polo ⁶⁰

Gaetan Poulen ^{1, 2}

Tuula Rinne ⁴²

Thomas Roujeau ¹

Caleb Rogers ³⁶

Agathe Roubertie ^{61, 62}

Michelle Sahagian ^{63, 64}

Elise Schaefer ⁶⁵

Laila Selim ⁶⁶

Richard Selway ⁶⁷

Nutan Sharma ^{27, 28, 68}

Rebecca Signer ³⁴

Ariane G Soldatos ³⁷

David A. Stevenson ¹³

Fiona Stewart ⁶⁹

Michel Tchan ^{55, 70}

Ishwar C. Verma ⁵⁷

Bert B. A. de Vries ⁴²

Jenny L. Wilson ⁷¹

Derek A Wong ⁵³

Raghda Zaitoun ⁷²

Dolly Zhen ³⁶

Anna Znaczko ⁶⁹

Russell C. Dale ^{73, 74}

Claudio M De Gusmão ^{28, 75}

Jennifer Friedman ^{63, 64, 76, 77}

Victor S.C. Fung ^{52, 55}

Mary D. King ^{35, 51}

Shekeeb S. Mohammad ^{73, 74}

Luis Rohena ^{78, 79}

Jeff L. Waugh ⁸⁰

Camilo Toro ³⁷

F. Lucy Raymond ^{9, 81}

Maya Topf ⁶

Philippe Coubes ^{1, 2}

Kathleen M. Gorman ^{5, 8}

Manju A. Kurian ^{5, 8}

Hide authors affiliations Show authors affiliations: 81 affiliations

Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France |

Faculté de Médecine, Université de Montpellier, France |

Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK |

⁴

Children’s Neuromodulation Group, Women and Children’s Health Institute, Faculty of life Sciences and Medicine (FOLSM), King’s Health Partners, London, UK |

⁵

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK |

⁶

Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK |

⁷

Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK |

⁸

Department of Neurology, Great Ormond Street Hospital, London, UK |

⁹

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK |

¹⁰

Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK |

¹¹

European IBM Systems Center, Montpellier, France |

¹²

Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK |

¹³

Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA |

¹⁴

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA |

¹⁵

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA |

¹⁶

Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France |

¹⁷

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK |

¹⁸

Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany |

¹⁹

Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA |

²⁰

Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK |

²¹

Département d’Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France |

²²

Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France |

²³

Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France |

²⁴

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier, France |

²⁵

Division of Neurology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada |

²⁶

Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l’enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France |

²⁷

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA |

²⁸

Department of Neurology, Harvard Medical School, Boston, MA, USA |

²⁹

Department of Pediatrics, Lucile Packard Children’s Hospital at Stanford, CA, USA |

³⁰

Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK |

³¹

Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland |

³²

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA

Harvard University

Brigham and Women's Hospital

³³

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA |

³⁴

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA |

³⁵

Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland |

³⁶

Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA |

³⁷

Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA |

³⁸

Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy |

³⁹

Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK |

⁴⁰

Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA |

⁴¹

Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France |

⁴²

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands |

⁴³

Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris

⁴⁴

Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia |

⁴⁵

Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia

University of Sydney

Royal North Shore Hospital

⁴⁶

Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia |

⁴⁷

Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France |

⁴⁸

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA |

⁴⁹

Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France |

⁵⁰

Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France |

⁵¹

UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland |

⁵²

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia |

⁵³

Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA |

⁵⁴

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA |

⁵⁵

Sydney Medical School, University of Sydney, Sydney, nsw, Australia |

⁵⁶

Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark |

⁵⁷

Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India |

⁵⁸

Département d’Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France |

⁵⁹

Randall Children's Hospital, Portland, OR, USA |

⁶⁰

Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France |

⁶¹

Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France |

⁶²

INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France |

⁶³

Division of Neurology, Rady Children's Hospital San Diego, CA, USA |

⁶⁴

Department of Neuroscience, University of California San Diego, CA, USA |

⁶⁵

Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France |

⁶⁶

Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt |

⁶⁷

Department of Neurosurgery, King's College Hospital, London, UK |

⁶⁸

Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA |

⁶⁹

Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK |

⁷⁰

Department of Genetics, Westmead Hospital, Westmead, NSW, Australia |

⁷¹

Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA |

⁷²

Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt |

⁷³

Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia |

⁷⁴

Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia |

⁷⁵

Department of Neurology, Boston Children's Hospital, Boston, MA, USA |

⁷⁶

Departments of Paediatrics, University of California, San Diego, CA, USA |

⁷⁷

Rady Children's Institute for Genomic Medicine, San Diego, CA, USA |

⁷⁸

Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA |

⁷⁹

Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA |

⁸⁰

Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA |

⁸¹

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK |

Publication type: Journal Article

Publication date: 2020-11-01

Oxford University Press

Brain

scimago Q1

wos Q1

SJR: 4.720

CiteScore: 20.4

Impact factor: 11.7

ISSN: 00068950, 14602156

DOI: 10.1093/brain/awaa304

Copy DOI

PubMed ID: 33150406

Neurology (clinical)

Abstract

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: 4.5–37.0 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’s 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, >50% of subjects showed BFMDRS-M and BFMDRS-D improvements of >30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n = 8), improvement of >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.

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Cif L. et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation // Brain. 2020. Vol. 143. No. 11. pp. 3242-3261.

GOST all authors (up to 50) Copy

Cif L. et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation // Brain. 2020. Vol. 143. No. 11. pp. 3242-3261.

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BibTex (up to 50 authors) Copy

@article{2020_Cif,

author = {Laura Cif and Diane Demailly and Jean-Pierre Lin and Katy E Barwick and Mário Sá and Lucia Abela and Sony Malhotra and WUI K. CHONG and Dora Steel and Alba Sanchis-Juan and Adeline Ngoh and Natalie Trump and ESTHER MEYER and Xavier Vasques and Julia Rankin and Meredith W Allain and Carolyn D. Applegate and Sanaz Attaripour Isfahani and Julien Baleine and Bettina Balint and Jennifer A. Bassetti and Emma L. Baple and Kailash P. Bhatia and Catherine Blanchet and Lydie Burglen and Gilles Cambonie and Emilie Chan Seng and Sandra Chantot Bastaraud and Fabienne Cyprien and Christine Coubes and Vincent Dhardemare and Asif Doja and Nathalie Dorison and Diane Doummar and Marisela E Dy Hollins and Ellyn Farrelly and David R FitzPatrick and Conor Fearon and Elizabeth L. Fieg and Brent L. Fogel and Eva B Forman and Rachel Fox and William A. Gahl and Serena Galosi and Victoria González and Tracey D Graves and Allison Gregory and Mark Hallett and Harutomo Hasegawa and Susan J. Hayflick and others},

title = {KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation},

journal = {Brain},

year = {2020},

volume = {143},

publisher = {Oxford University Press},

month = {nov},

url = {https://doi.org/10.1093/brain/awaa304},

number = {11},

pages = {3242--3261},

doi = {10.1093/brain/awaa304}

}

MLA

Cite this

MLA Copy

Cif, Laura, et al. “KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.” Brain, vol. 143, no. 11, Nov. 2020, pp. 3242-3261. https://doi.org/10.1093/brain/awaa304.

Publisher

Oxford University Press

Journal

Brain

scimago Q1

wos Q1

SJR

4.720

CiteScore

20.4

Impact factor

11.7

ISSN

00068950 (Print)

14602156 (Electronic)