AI Article Synopsis
- VCP-proteinopathy is a neurodegenerative disorder linked to mutations in the valosin-containing protein, and this report discusses its first documented Greek case.
- The 62-year-old patient experienced gradual muscle weakness, dementia, and severe neuropsychiatric symptoms over time, with MRI scans showing brain and muscle atrophy.
- Genetic analysis revealed a specific mutation in the VCP gene, indicating variability in the presentation of the disease among affected family members, which expands understanding of VCP-proteinopathy's spectrum.
Article 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 gene revealed a pathogenic heterozygous missense mutation p.R159H. Conclusively, the present report highlights the intrafamilial variability and broadens the phenotypic spectrum of VCP-proteinopathy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953233 | PMC |
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