Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation

다국어 초록 (Multilingual Abstract)

Background Inclusion-body myopathy with Paget’s disease of the bone and frontotemporaldementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations ina gene coding for valosin-containing protein.
Case Repor zWe report the case of a man carrying the previously described p.Arg159Hismutation, 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’sdisease.

참고문헌 (Reference)

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