Kurt Segers1, Gerald Glibert1, Johan Callebaut2, Luc Kevers3, Ibrahim Alcan4, Bernard Dachy1. 1. Department of Neurology, The Brugmann University Hospital, Brussels, Belgium. 2. Department of Neurology, Clinique Sainte-Anne Saint-Remi, Brussels, Belgium. 3. Department of Neurology, Clinique Saint-Jean, Brussels, Belgium. 4. Department of Radiology, The Brugmann University Hospital, Brussels, Belgium.
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 developed frontotemporal dementia. CONCLUSIONS: Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.
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 developed frontotemporal dementia. CONCLUSIONS:Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.
Entities:
Keywords:
IBMPFD; Paget's disease; frontotemporal dementia; sensorimotor neuropathy; valosin-containing protein
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