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

Nivedita U Jerath; Cameron D Crockett; Steven A Moore; Michael E Shy; Conrad C Weihl; Tsui-Fen Chou; Tiffany Grider; Michael A Gonzalez; Stephan Zuchner; Andrea Swenson

doi:10.1155/2015/239167

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

Journal article

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

Nivedita U Jerath, Cameron D Crockett, Steven A Moore, Michael E Shy, Conrad C Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A Gonzalez, Stephan Zuchner and Andrea Swenson

Case reports in genetics, Vol.2015, pp.239167-239167

2015

DOI: 10.1155/2015/239167

PMCID: PMC4386706

PMID: 25878907

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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.

Case Report

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Title: Subtitle: Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Creators: Nivedita U Jerath - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Cameron D Crockett - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Steven A Moore - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Michael E Shy - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Conrad C Weihl - Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA
Tsui-Fen Chou - Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Centre, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA
Tiffany Grider - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Michael A Gonzalez - Dr. 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
Stephan Zuchner - Dr. 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
Andrea Swenson - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Resource Type: Journal article
Publication Details: Case reports in genetics, Vol.2015, pp.239167-239167
DOI: 10.1155/2015/239167
PMID: 25878907
PMCID: PMC4386706
NLM abbreviation: Case Rep Genet
ISSN: 2090-6544
eISSN: 2090-6552
Publisher: Hindawi Publishing Corporation
Grant note: DOI: 10.13039/100000065, name: National Institute of Neurological Disorders and Stroke, award: NS065712, U54, NS053672, UL1TR000124, 20826-01
Language: English
Date published: 2015
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute
Record Identifier: 9984013108102771

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