Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Anna Bersano, Roberto Del Bo, Costanza Lamperti, Serena Ghezzi, Gigliola Fagiolari, Francesco Fortunato, Elena Ballabio, Maurizio Moggio, Livia Candelise, Daniela Galimberti, Roberta Virgilio, Silvia Lanfranconi, Yvan Torrente, Marinella Carpo, Nereo Bresolin, Giacomo P Comi, Stefania Corti
Neurobiology of Aging 2009, 30 (5): 752-8
Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) is a rare autosomal dominant disease caused by mutations in the valosin-containing protein (VCP) gene. We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian patient presenting with slowly progressive muscle weakness of the distal upper and proximal lower limbs since the age of 50 years, 18 years later FTD supervened. No dementia or myopathies were revealed in the family history covering two generations. Degenerative changes and rimmed vacuoles together with VCP- and ubiquitin-positive cytoplasmic and nuclear aggregates were observed at the muscle biopsy. Several elements support the pathogenic role of the R159C VCP gene mutation: the occurrence at the same codon of a different, previously identified pathogenic mutation within a VCP gene mutational hot-spot, the histopathological and biochemical evidence of muscle VCP accumulation and the combined clinical presentation of IBM and FTD. These findings suggest VCP gene investigation even in apparently sporadic cases.

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