Involvement of peripheral and central nervous systems in a valosin-containing protein mutation

Abstract

Background Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein. Case Report We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient de veloped frontotemporal dementia. Conclusions Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiag nosed disorder should be considered when a patient develops dementia or has signs of Paget's disease. © 2014 Korean Neurological Association.