Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Marianela Schiava; Chiseko Ikenaga; Rocío Nur Villar-Quiles; Marta Caballero-Ávila; Ana Topf; Ichizo Nishino; Virginia Kimonis; Bjarne Udd; Benedikt Schoser; Edmar Zanoteli; Paulo Victor Sgobbi Souza; Giorgio Tasca; Thomas Lloyd; Adolfo Lopez-de Munain; Carmen Paradas; Elena Pegoraro; Aleksandra Nadaj-Pakleza; Jan De Bleecker; Umesh Badrising; Alicia Alonso-Jiménez; Anna Kostera-Pruszczyk; Francesc Miralles; Jin-Hong Shin; Jorge Alfredo Bevilacqua; Montse Olivé; Matthias Vorgerd; Rudi Kley; Stefen Brady; Timothy Williams; Cristina Domínguez-González; George K Papadimas; Jodi Warman-Chardon; Kristl G Claeys; Marianne de Visser; Nuria Muelas; Pascal LaForet; Edoardo Malfatti; Lindsay N Alfano; Sruthi S Nair; Georgios Manousakis; Hani A Kushlaf; Matthew B Harms; Christopher Nance; Alba Ramos-Fransi; Carmelo Rodolico; Channa Hewamadduma; Hakan Cetin; Jorge García-García; Endre Pál; Maria Elena Farrugia; Phillipa J Lamont; Colin Quinn; Velina Nedkova-Hristova; Stojan Peric; Sushan Luo; Anders Oldfors; Kate Taylor; Stuart Ralston; Tanya Stojkovic; Conrad Weihl; Jordi Diaz-Manera

doi:10.1136/jnnp-2022-328921

Article info

Neuromuscular

Original research

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Authors

Marianela Schiava John Walton Muscular Dystrophy Research Centre, Newcastle University, and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK PubMed articles Google scholar articles
Chiseko Ikenaga Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Rocío Nur Villar-Quiles APHP, Centre de référence des maladies neuromusculaires, Institut de Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France PubMed articles Google scholar articles
Marta Caballero-Ávila Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain PubMed articles Google scholar articles
Ana Topf Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Ichizo Nishino Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan PubMed articles Google scholar articles
Virginia Kimonis Department of Pediatrics Division of Genetics and Genomic Medicine, University of California-Irvine Medical Center Children’s Hospital of Orange County, Orange, California, USA PubMed articles Google scholar articles
Bjarne Udd Tampere Neuromuscular Center, Tampere University Hospital, Tampere, FinlandFolkhalsan Genetic Institute, Helsinki University, Helsinki, Finland PubMed articles Google scholar articles
Benedikt Schoser Department of Neurology, Friedrich-Baur-Institute Ludwig Maximilian University Clinics, Munich, Germany PubMed articles Google scholar articles
Edmar Zanoteli Department of Neurology, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, Brazil PubMed articles Google scholar articles
Paulo Victor Sgobbi Souza Disciplina de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil PubMed articles Google scholar articles
Giorgio Tasca Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A Gemelli, IRCCS, Rome, Italy PubMed articles Google scholar articles
Thomas Lloyd Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Adolfo Lopez-de Munain Biodonostia Neurosciences Area Group of Neuromuscular Diseases Biodonostia-Osakidetza Basque Health Service, San Sebastian, Spain PubMed articles Google scholar articles
Carmen Paradas Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío, Sevilla, SpainInstituto de Biomedicina de Sevilla, Sevilla, SpainCenter for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain PubMed articles Google scholar articles
Elena Pegoraro Department of Neurosciences, University of Padova, Padova, Italy PubMed articles Google scholar articles
Aleksandra Nadaj-Pakleza Department of Neurology, Centre de Reference des Maldies Neuromusculaires Nord-Est-Ile de France, University Hospital of Strasbourg, Strasbourg, France PubMed articles Google scholar articles
Jan De Bleecker Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium PubMed articles Google scholar articles
Umesh Badrising Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands PubMed articles Google scholar articles
Alicia Alonso-Jiménez Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Universiteit Antwerpen, Instituut Born Bunge, Antwerpen, Belgium PubMed articles Google scholar articles
Anna Kostera-Pruszczyk Department of Neurology, Medical University of Warsaw, European Reference Network ERN-NMD, Warsaw, Poland PubMed articles Google scholar articles
Francesc Miralles Department of Neurology, Unitat de Patologia Neuromuscular i Gabinet d'electrodiagnòstic, Hospital Universitari Son Espases, Palma de Mallorca, Spain PubMed articles Google scholar articles
Jin-Hong Shin Laboratory of Molecular Neurology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea PubMed articles Google scholar articles
Jorge Alfredo Bevilacqua Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, ChileDepartamento de Neurología y Neurocirugía Clínica, Clínica Dávila, Santiago Chile, Chile PubMed articles Google scholar articles
Montse Olivé Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, SpainDeaprtment of Neurology, Neuromuscular Disorders Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainBiomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain PubMed articles Google scholar articles
Matthias Vorgerd Heimer Institut for Muscle Research, Klinikum Bergmannsheil, Ruhr University, Bochum, Germany PubMed articles Google scholar articles
Rudi Kley Department of Neurology and Clinical Neurophysiology, St Marien-Hospital Borken, Borken, Germany PubMed articles Google scholar articles
Stefen Brady Neurology Department, John Radcliffe Hospital, Oxford, UK PubMed articles Google scholar articles
Timothy Williams Newcastle Motor Neurone Disease Care Centre, Royal Victoria Infirmary, Newcastle, UK PubMed articles Google scholar articles
Cristina Domínguez-González Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, SpainNeurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articles Google scholar articles
George K Papadimas First Department of Neurology, Medical School, Eginition Hospital and National and Kapodistrian University of Athens, Athens, Greece PubMed articles Google scholar articles
Jodi Warman-Chardon Department of Medicine, Ottawa Neuromuscular Centre, Ottawa Hospital, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Kristl G Claeys Department of Neurology, University Hospitals Leuven, Leuven, BelgiumKU Leuven Laboratory for Muscle Diseases and Neuropathies, Leuven, Belgium PubMed articles Google scholar articles
Marianne de Visser Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Nuria Muelas Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, SpainNeuromuscular Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, SpainNeuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain PubMed articles Google scholar articles
Pascal LaForet Neurology department, Raymond-Poincaré hospital, APHP, UVSQ, Paris-Saclay University, Paris, France PubMed articles Google scholar articles
Edoardo Malfatti APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Créteil, IMRB, Paris, France PubMed articles Google scholar articles
Lindsay N Alfano Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, USADepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA PubMed articles Google scholar articles
Sruthi S Nair Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India PubMed articles Google scholar articles
Georgios Manousakis Department of Neurology, University of Minnesota Hospital, Minneapolis, Minnesota, USA PubMed articles Google scholar articles
Hani A Kushlaf Department of Neurology & Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Matthew B Harms NewYork Presbyterian Columbia University Irving Medical Centre, New York, New York, USA PubMed articles Google scholar articles
Christopher Nance Department of Neurology, Carver College of Medicine at the University of Iowa, Iowa, Iowa, USA PubMed articles Google scholar articles
Alba Ramos-Fransi Neuromuscular Unit, Neurology Department, Hospital Germas Trias i Pujol, Badalona, Spain PubMed articles Google scholar articles
Carmelo Rodolico Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy PubMed articles Google scholar articles
Channa Hewamadduma Sheffield Institute for translational neurosciences (SITRAN), Neuroscience Institute, University of Sheffield, Sheffield, UK PubMed articles Google scholar articles
Hakan Cetin Department of Neurology, Medical University of Vienna, Vienna, Austria PubMed articles Google scholar articles
Jorge García-García Neurology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain PubMed articles Google scholar articles
Endre Pál Department of Neurology, University of Pécs, Pécs, Hungary PubMed articles Google scholar articles
Maria Elena Farrugia Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK PubMed articles Google scholar articles
Phillipa J Lamont Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia PubMed articles Google scholar articles
Colin Quinn Neuromuscular Division, Neurology Department, University of Pennsylvania, Philadelphia, Pennsylvania, USA PubMed articles Google scholar articles
Velina Nedkova-Hristova Neurology Department, Bellvitge University Hospital, Bellvitge, Spain PubMed articles Google scholar articles
Stojan Peric Neurology Clinic, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia PubMed articles Google scholar articles
Sushan Luo Department of Neurology, Huashan Hospital Fudan University, Shanghai, ChinaNational Center for Neurological Disorders, Shanghai, China PubMed articles Google scholar articles
Anders Oldfors Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden PubMed articles Google scholar articles
Kate Taylor Southern General Hospital, Glasgow, UK PubMed articles Google scholar articles
Stuart Ralston Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK PubMed articles Google scholar articles
Tanya Stojkovic APHP, Centre de référence des maladies neuromusculaires, Institut de Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France PubMed articles Google scholar articles
Conrad Weihl Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA PubMed articles Google scholar articles
Jordi Diaz-Manera John Walton Muscular Dystrophy Research Centre, Newcastle University, and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UKInstitut de Recerca de l’Hospital de la Santa Creu i Sant Pau, Barcelona, Spain PubMed articles Google scholar articles
VCP International Study Group
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Correspondence to Professor Jordi Diaz-Manera, John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trusts, Newcastle University, NE1 7RU, UK; jordi.diaz-manera{at}newcastle.ac.uk

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Citation

Schiava M, Ikenaga C, Villar-Quiles RN VCP International Study Group, VCP International Study Group, et al

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Journal of Neurology, Neurosurgery & Psychiatry 2022;93:1099-1111.

Publication history

Received February 1, 2022
Accepted June 28, 2022
First published July 27, 2022.

Online issue publication

September 14, 2022

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