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Article

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2017

Papadimas George K, Paraskevas George P, Zambelis Thomas, Karagiaouris Chrisostomos, Bourbouli Mara, Bougea Anastasia, Walter Maggie C, Schumacher Nicolas U, Krause Sabine, Kapaki Elisabeth

Abstract excerpt

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...

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Identifiers

PMID: 29770363
PMCID: PMC5953233

Genes

VCP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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