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


METHODS
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.
Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.
Kurt
K
Segers
Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.
Gerald
G
Glibert
Department of Neurology, Clinique Sainte-Anne Saint-Remi, Brussels, Belgium.
Johan
J
Callebaut
Department of Neurology, Clinique Saint-Jean, Brussels, Belgium.
Luc
L
Kevers
Department of Radiology, The Brugmann University Hospital, Brussels, Belgium.
Ibrahim
I
Alcan
Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.
Bernard
B
Dachy
IBMPFD; Paget's disease; frontotemporal dementia; sensorimotor neuropathy; valosin-containing protein