ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2017
The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- VCP-related myopathy: a case series and a review of literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Cerebrospinal Fluid Biomarker Profile in TDP-43-Related Genetic Frontotemporal Dementia.Journal of personalized medicine · 2022Article
- Multisystem Proteinopathy Due toGenes · 2022Review
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.Orphanet journal of rare diseases · 2022Review
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
- Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.Brain sciences · 2021Article
- A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy. Family history was positive and several members of the family had been diagnosed with motor neuron disease, dementia or behavioral symptoms. Sequencing of the
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29770363PMC5953233W2789263460What OpenQuestion holds
Registered trials
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