Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation
Journal of Clinical Neurology 2014³â 10±Ç 2È£ p.166 ~ p.170
(Segers Kurt) - Brugmann University Hospital Department of Neurology
(Glibert Gerald) - Brugmann University Hospital Department of Neurology
(Callebaut Johan) - Clinique Sainte-Anne Saint-Remi Department of Neurology
(Kevers Luc) - Clinique Saint-Jean Department of Neurology
(Alcan Ibrahim) - Brugmann University Hospital Department of Radiology
(Dachy Bernard) - Brugmann University Hospital Department of Neurology
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.
Conclusion: 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.
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sensorimotor neuropathy, valosin-containing protein, IBMPFD, frontotemporal dementia, Paget¡¯s disease
KMID :
1130620140100020166
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