Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the <i>VCP </i>R155H mutation in an Italian family and implications for genetic counselling

Abstract excerpt

The acronym IBMPFD denotes a syndrome including inclusion body myopathy, Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) as cardinal features, which is caused by missense mutations in the VCP gene. We studied the clinical characteristics and the histopathological features in two siblings and their mother who presented with adult-onset myopathy and presenile, rapidly progressive FTD. One...

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