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

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.

SUBMITTER: Segers K 

PROVIDER: S-EPMC4017021 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Publications

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

Segers Kurt K   Glibert Gerald G   Callebaut Johan J   Kevers Luc L   Alcan Ibrahim I   Dachy Bernard B  

Journal of clinical neurology (Seoul, Korea) 20140423 2

<h4>Background</h4>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.<h4>Case report</h4>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 p  ...[more]