ArticleNeurology2016
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
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Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics · 2026Article
- NovelNeurology. Genetics · 2026Article
- Emergence of Catalytic Activity in VRK3: Phosphoproteomic Insights into the Regulatory Network of a Former Pseudokinase.Proteomes · 2026Review
- Review
- Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report.BMJ neurology open · 2025Article
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- VRK1 Is a Synthetic-Lethal Target in VRK2-Deficient Glioblastoma.Cancer research · 2022Article
- Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.Journal of clinical medicine · 2022Article
- Dysregulation of Cellular VRK1, BAF, and Innate Immune Signaling by the Vaccinia Virus B12 Pseudokinase.Journal of virology · 2022Article
- Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity.Nucleic acids research · 2022Article
- Adult-Onset Spinal Muscular Atrophy due to Mutations in theNeurology. Genetics · 2021Article
- VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.Annals of clinical and translational neurology · 2020Article
- Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.Annals of clinical and translational neurology · 2019Article
- VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.Scientific reports · 2019Article
- Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.Internal medicine (Tokyo, Japan) · 2019Article
- A novel mutation in VRK1 associated with distal spinal muscular atrophy.Journal of human genetics · 2019Article
- A novelAnnals of clinical and translational neurology · 2019Article
- Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.Scientific reports · 2018Article
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Orphanet journal of rare diseases · 2018Review
- Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Neural plasticity · 2017Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Marion StollFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Hooiling TeohFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
James LeeFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Stephen ReddelFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Ying ZhuFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Michael BuckleyFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Hugo SampaioFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Tony RoscioliFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Michelle FarrarFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.
Garth NicholsonFrom the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia. garth.nicholson@sydney.edu.au.
Concord Hospital · USSydney Children's Hospital · AUThe Kinghorn Cancer Centre · AUHunter Genetics · AUPrince of Wales Hospital · AURoyal North Shore Hospital · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation.
methodsVRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders.
resultsWe identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease.
conclusionsVRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia.
Indexed as
MutationAdultAge of OnsetChild, PreschoolFamilyFemaleHumansIntracellular Signaling Peptides and ProteinsMaleMotor Neuron DiseasePedigreePhenotypeProtein Serine-Threonine KinasesIntracellular Signaling Peptides and ProteinsProtein Serine-Threonine KinasesVRK1 protein, human
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