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

George K. Papadimas 1, George P. Paraskevas 1, Thomas Zambelis 1, Chrisostomos Karagiaouris 1, Mara Bourbouli 1, Anastasia Bougea 1, Maggie C. Walter 2, Nicolas U. Schumacher 2, Sabine Krause 2 and Elisabeth Kapaki 1

1 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece; 2 Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Munich, Germany

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 VCP 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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