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Segers K, Glibert G, Callebaut J, et al. Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. J Clin Neurol. 2014;10(2):166-70doi: 10.3988/jcn.2014.10.2.166.
Segers, K., Glibert, G., Callebaut, J., Kevers, L., Alcan, I., & Dachy, B. (2014). Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. Journal of clinical neurology (Seoul, Korea), 10(2), 166-70. https://doi.org/10.3988/jcn.2014.10.2.166
Segers, Kurt, et al. "Involvement of peripheral and central nervous systems in a valosin-containing protein mutation." Journal of clinical neurology (Seoul, Korea) vol. 10,2 (2014): 166-70. doi: https://doi.org/10.3988/jcn.2014.10.2.166
Segers K, Glibert G, Callebaut J, Kevers L, Alcan I, Dachy B. Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. J Clin Neurol. 2014 Apr;10(2):166-70. doi: 10.3988/jcn.2014.10.2.166. Epub 2014 Apr 23. PMID: 24829604; PMCID: PMC4017021.
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J Clin Neurol. 2014 Apr;10(2):166-70. doi: 10.3988/jcn.2014.10.2.166. Epub 2014 Apr 23.

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

Journal of clinical neurology (Seoul, Korea)

Kurt Segers, Gerald Glibert, Johan Callebaut, Luc Kevers, Ibrahim Alcan, Bernard Dachy

Affiliations

  1. Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.
  2. Department of Neurology, Clinique Sainte-Anne Saint-Remi, Brussels, Belgium.
  3. Department of Neurology, Clinique Saint-Jean, Brussels, Belgium.
  4. Department of Radiology, The Brugmann University Hospital, Brussels, Belgium.

PMID: 24829604 PMCID: PMC4017021 DOI: 10.3988/jcn.2014.10.2.166

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.

Keywords: IBMPFD; Paget's disease; frontotemporal dementia; sensorimotor neuropathy; valosin-containing protein

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