ArticleJournal of neurology, neurosurgery, and psychiatry2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
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Article in Journal of neurology, neurosurgery, and psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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23citing papers in PubMed, 1 pooled it
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics · 2026Article
- The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.Molecular genetics and metabolism reports · 2026Article
- Cardiomyopathy in valosin-containing protein multisystem proteinopathy: Evaluation, diagnosis, and management.American heart journal plus : cardiology research and practice · 2025Review
- Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1.Annals of clinical and translational neurology · 2025Article
- Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.Orphanet journal of rare diseases · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.European journal of human genetics : EJHG · 2024Article
- Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.Neurology. Genetics · 2024Article
- Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry.Muscle & nerve · 2024Article
- Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.Annals of clinical and translational neurology · 2024Article
- Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.Scientific reports · 2024Article
- Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.Journal of neurology · 2023Article
- An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.American journal of human genetics · 2023Article
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.Molecular neurodegeneration · 2023Review
- Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.Neurology. Genetics · 2023Article
- Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy.Molecular genetics & genomic medicine · 2023Article
- Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.Annals of clinical and translational neurology · 2023Review
- Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.Annals of clinical and translational neurology · 2023Article
Corrections and comments
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Authors and funding
63 authors.
Marianela SchiavaJohn Walton Muscular Dystrophy Research Centre, Newcastle University, and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.ORCID 0000-0002-2709-265X
Chiseko IkenagaDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Rocío Nur Villar-QuilesAPHP, Centre de référence des maladies neuromusculaires, Institut de Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
Marta Caballero-ÁvilaNeuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.ORCID 0000-0001-9850-8504
Ana TopfNewcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle University, Newcastle upon Tyne, UK.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.ORCID 0000-0001-9452-112X
Virginia KimonisDepartment of Pediatrics Division of Genetics and Genomic Medicine, University of California-Irvine Medical Center Children's Hospital of Orange County, Orange, California, USA.
Bjarne UddTampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.
Benedikt SchoserDepartment of Neurology, Friedrich-Baur-Institute Ludwig Maximilian University Clinics, Munich, Germany.
Edmar ZanoteliDepartment of Neurology, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, Brazil.ORCID 0000-0002-4991-6760
Paulo Victor Sgobbi SouzaDisciplina de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.ORCID 0000-0002-7416-7108
Giorgio TascaUnità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A Gemelli, IRCCS, Rome, Italy.ORCID 0000-0003-0849-9144
Thomas LloydDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Adolfo Lopez-de MunainBiodonostia Neurosciences Area Group of Neuromuscular Diseases Biodonostia-Osakidetza Basque Health Service, San Sebastian, Spain.
Carmen ParadasNeurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Elena PegoraroDepartment of Neurosciences, University of Padova, Padova, Italy.ORCID 0000-0002-7740-4156
Aleksandra Nadaj-PaklezaDepartment of Neurology, Centre de Reference des Maldies Neuromusculaires Nord-Est-Ile de France, University Hospital of Strasbourg, Strasbourg, France.
Jan De BleeckerDepartment of Neurology and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium.
Umesh BadrisingDepartment of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Alicia Alonso-JiménezDepartment of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Universiteit Antwerpen, Instituut Born Bunge, Antwerpen, Belgium.
Anna Kostera-PruszczykDepartment of Neurology, Medical University of Warsaw, European Reference Network ERN-NMD, Warsaw, Poland.
Francesc MirallesDepartment of Neurology, Unitat de Patologia Neuromuscular i Gabinet d'electrodiagnòstic, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Jin-Hong ShinLaboratory of Molecular Neurology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.ORCID 0000-0002-5174-286X
Jorge Alfredo BevilacquaUnidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago de Chile, Chile.
Montse OlivéCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Matthias VorgerdHeimer Institut for Muscle Research, Klinikum Bergmannsheil, Ruhr University, Bochum, Germany.
Rudi KleyDepartment of Neurology and Clinical Neurophysiology, St Marien-Hospital Borken, Borken, Germany.
Stefen BradyNeurology Department, John Radcliffe Hospital, Oxford, UK.
Timothy WilliamsNewcastle Motor Neurone Disease Care Centre, Royal Victoria Infirmary, Newcastle, UK.
Cristina Domínguez-GonzálezCentro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.ORCID 0000-0001-5151-988X
George K PapadimasFirst Department of Neurology, Medical School, Eginition Hospital and National and Kapodistrian University of Athens, Athens, Greece.
Jodi Warman-ChardonDepartment of Medicine, Ottawa Neuromuscular Centre, Ottawa Hospital, Ottawa, Ontario, Canada.
Kristl G ClaeysDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.ORCID 0000-0001-9937-443X
Marianne de VisserDepartment of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Nuria MuelasCentro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.
Pascal LaForetNeurology department, Raymond-Poincaré hospital, APHP, UVSQ, Paris-Saclay University, Paris, France.
Edoardo MalfattiAPHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Créteil, IMRB, Paris, France.
Lindsay N AlfanoCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID 0000-0002-2263-7569
Sruthi S NairDepartment of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.ORCID 0000-0001-5463-5229
Georgios ManousakisDepartment of Neurology, University of Minnesota Hospital, Minneapolis, Minnesota, USA.
Hani A KushlafDepartment of Neurology & Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Matthew B HarmsNewYork Presbyterian Columbia University Irving Medical Centre, New York, New York, USA.
Christopher NanceDepartment of Neurology, Carver College of Medicine at the University of Iowa, Iowa, Iowa, USA.
Alba Ramos-FransiNeuromuscular Unit, Neurology Department, Hospital Germas Trias i Pujol, Badalona, Spain.
Carmelo RodolicoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Channa HewamaddumaSheffield Institute for translational neurosciences (SITRAN), Neuroscience Institute, University of Sheffield, Sheffield, UK.
Hakan CetinDepartment of Neurology, Medical University of Vienna, Vienna, Austria.ORCID 0000-0001-9009-7261
Jorge García-GarcíaNeurology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
Endre PálDepartment of Neurology, University of Pécs, Pécs, Hungary.
Maria Elena FarrugiaInstitute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.
Phillipa J LamontDepartment of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
Colin QuinnNeuromuscular Division, Neurology Department, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Velina Nedkova-HristovaNeurology Department, Bellvitge University Hospital, Bellvitge, Spain.
Stojan PericNeurology Clinic, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Sushan LuoDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.ORCID 0000-0002-9033-7568
Anders OldforsDepartment of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Kate TaylorSouthern General Hospital, Glasgow, UK.
Stuart RalstonCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Tanya StojkovicAPHP, Centre de référence des maladies neuromusculaires, Institut de Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
Conrad WeihlDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-3816-6124
Jordi Diaz-ManeraORCID 0000-0003-2941-7988
VCP International Study Group
VCP International Study Group
Funding
VCP in myopathy and dementiaR01AG031867 · NIA · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2009 to 2026
$9.1MClinical and Translational Studies in Muscle DiseaseK24AR073317 · NIAMS · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2018 to 2026
$1.6MComprehensive gene and DNA variant curation for neuromuscular diseasesU24NS120858 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BIRSOY , OZGE, WEIHL, CONRAD C · 2021 to 2023
$1.1MNIAMS NIH HHS K24 AR073317NIA NIH HHS R01 AG031867NINDS NIH HHS U24 NS120858
Abstract
backgroundValosin-containing protein (VCP) disease, caused by mutations in the
methodsDescriptive retrospective international study collecting clinical and genetic data of patients with mutations in the
resultsTwo hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC <70% and being a full-time wheelchair user were associated with death.
conclusionThis study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.
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FRONTOTEMPORAL DEMENTIAGENETICSINCL BODY MYOSITISMUSCLE DISEASEMYOPATHY
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