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

AbstractBACKGROUND:
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.
AuthorsKurt Segers, Gerald Glibert, Johan Callebaut, Luc Kevers, Ibrahim Alcan, Bernard Dachy
JournalJournal of clinical neurology (Seoul, Korea) (J Clin Neurol) Vol. 10 Issue 2 Pg. 166-70 (Apr 2014) ISSN: 1738-6586 [Print] Korea (South)
PMID24829604 (Publication Type: Journal Article)

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