Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author:

Steel Dora12ORCID,Zech Michael34,Zhao Chen3,Barwick Katy E. S.1,Burke Derek5,Demailly Diane6,Kumar Kishore R.78910,Zorzi Giovanna11,Nardocci Nardo11,Kaiyrzhanov Rauan12,Wagner Matias34,Iuso Arcangela34,Berutti Riccardo4,Škorvánek Matej1314,Necpál Ján15,Davis Ryan7910,Wiethoff Sarah1617,Mankad Kshitij18,Sudhakar Sniya18,Ferrini Arianna1,Sharma Suvasini19,Kamsteeg Erik‐Jan20,Tijssen Marina A.21,Verschuuren Corien2223,Egmond Martje E.2122,Flowers Joanna M.24,McEntagart Meriel25,Tucci Arianna26,Coubes Philippe6,Bustos Bernabe I.27,Gonzalez‐Latapi Paulina27,Tisch Stephen28,Darveniza Paul28,Gorman Kathleen M.2930,Peall Kathryn J.31ORCID,Bötzel Kai32,Koch Jan C.33,Kmieć Tomasz34,Plecko Barbara35,Boesch Sylvia36,Haslinger Bernhard37,Jech Robert38,Garavaglia Barbara11,Wood Nick16,Houlden Henry12,Gissen Paul39,Lubbe Steven J.27,Sue Carolyn M.791040,Cif Laura6,Mencacci Niccolò E.27,Anderson Glenn41,Kurian Manju A.12,Winkelmann Juliane344243,

Affiliation:

1. Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London UK

2. Department of Neurology Great Ormond Street Hospital London UK

3. Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

4. Institute of Human Genetics Technical University of Munich Munich Germany

5. Enzyme Laboratory Great Ormond Street Hospital for Children London UK

6. Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire Montpellier France

7. Department of Neurogenetics, Kolling Institute of Medical Research University of Sydney and Northern Sydney Local Health District Sydney New South Wales Australia

8. Molecular Medicine Laboratory Concord Repatriation General Hospital Concord New South Wales Australia

9. Translational Genomics, Kinghorn Centre for Clinical Genomics Garvan Institute for Medical Research Sydney New South Wales Australia

10. Department of Neurogenetics University of Sydney and Northern Sydney Local Health District Sydney New South Wales Australia

11. Department of Child Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

12. Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology London UK

13. Department of Neurology P. J. Safarik University Kosice Slovak Republic

14. Department of Neurology University Hospital of L. Pasteur Kosice Slovak Republic

15. Department of Neurology Zvolen Hospital Zvolen Slovakia

16. UCL Queen Square Institute of Neurology London UK

17. Department of Neurodegenerative Disease Hertie‐Institute for Clinical Brain Research and Center for Neurology, University of Tübingen Tübingen Germany

18. Department of Radiology Great Ormond Street Hospital for Children London UK

19. Neurology Division, Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital New Delhi India

20. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

21. Department of Neurology University of Groningen, University Medical Center Groningen Groningen The Netherlands

22. Expertise Center Movement Disorders Groningen University Medical Center Groningen Groningen The Netherlands

23. Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands

24. Department of Neurology St. George's Hospital London UK

25. Department of Clinical Genetics St. George's Hospital London UK

26. Genomics England London UK

27. Ken and Ruth Davee Department of Neurology Northwestern University Feinberg School of Medicine Chicago IL USA

28. Department of Neurology St. Vincent's Hospital Sydney Australia

29. Department of Neurology and Clinical Neurophysiology Children's Health Ireland at Temple Street Dublin Ireland

30. UCD School of Medicine and Medical Science University College Dublin Dublin Ireland

31. University of Cardiff Cardiff, Wales UK

32. Department of Neurology Ludwig Maximilian University Munich Germany

33. Department of Neurology University Medical Center Göttingen Göttingen Germany

34. Department of Neurology and Epileptology Children's Memorial Health Institute Warsaw Poland

35. Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria

36. Department of Neurology Medical University Innsbruck Innsbruck Austria

37. Klinik und Poliklinik für Neurologie Klinikum rechts der Isar, Technische Universität München Munich Germany

38. Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

39. Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health London UK

40. Department of Neurology Royal North Shore Hospital, Northern Sydney Local Health District Sydney New South Wales Australia

41. Department of Histopathology Great Ormond Street Hospital for Children London UK

42. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

43. Munich Cluster for Systems Neurology Munich Germany

Funder

Medical Research Council Canada

Cancer Research UK

Wellcome Trust

Department of Health, Australian Government

Fonds Psychische Gezondheid

Dystonia Medical Research Foundation

European Commission

ZonMw

National Health and Medical Research Council

European Social Fund

Rosetrees Trust

National Institute for Health Research

Ministry of Education

Univerzita Karlova v Praze

Medical University of Innsbruck

Helmholtz Centre Munich, German Research Center for Environmental Health

Technical University of Munich

EKFS

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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