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

par Segers, Kurt;Glibert, Gerald ;Callebaut, Johan;Kevers, Luc;Alcan, Ibrahim ;Dachy, Bernard
Référence Journal of Clinical Neurology (Korea), 10, 2, page (166-170)
Publication Publié, 2014

Article révisé par les pairs

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Résumé :

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.