Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation.
10.3988/jcn.2014.10.2.166
- Author:
Kurt SEGERS
1
;
Gerald GLIBERT
;
Johan CALLEBAUT
;
Luc KEVERS
;
Ibrahim ALCAN
;
Bernard DACHY
Author Information
1. Department of Neurology, The Brugmann University Hospital, Brussels, Belgium. kurt.segers@chu-brugmann.be
- Publication Type:Case Report
- Keywords:
sensorimotor neuropathy;
valosin-containing protein;
IBMPFD;
frontotemporal dementia;
Paget's disease
- MeSH:
Axons;
Central Nervous System*;
Clinical Coding;
Dementia;
Diagnosis;
Frontotemporal Dementia;
Genes, vif;
Humans;
Muscular Diseases;
Mutation, Missense;
Peripheral Nervous System Diseases
- From:Journal of Clinical Neurology
2014;10(2):166-170
- CountryRepublic of Korea
- Language:English
-
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.
