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KMID : 1130620140100020166
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Journal of Clinical Neurology
2014 Volume.10 No. 2 p.166 ~ p.170
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Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation
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Segers Kurt
Glibert Gerald
Callebaut Johan
Kevers Luc
Alcan Ibrahim
Dachy Bernard
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Abstract
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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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KEYWORD
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sensorimotor neuropathy, valosin-containing protein, IBMPFD, frontotemporal dementia, Paget’s disease
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