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Case Reports in Genetics
Volume 2015 (2015), Article ID 239167, 5 pages
http://dx.doi.org/10.1155/2015/239167
Case Report

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

1Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
2Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
3Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA
4Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Centre, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA
5Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Avenue, Miami, FL 33136, USA

Received 27 January 2015; Accepted 12 March 2015

Academic Editor: Patrick Morrison

Copyright © 2015 Nivedita U. Jerath et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation.