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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Joint Authors
Jerath, Nivedita U.
Crockett, Cameron D.
Moore, Steven A.
Shy, Michael E.
Weihl, Conrad C.
Chou, Tsui-Fen
Grider, Tiffany
Gonzalez, Michael A.
Zuchner, Stephan
Swenson, Andrea
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-23
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Jerath, Nivedita U.& Crockett, Cameron D.& Moore, Steven A.& Shy, Michael E.& Weihl, Conrad C.& Chou, Tsui-Fen…[et al.]. 2015. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058501
Modern Language Association (MLA)
Jerath, Nivedita U.…[et al.]. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Case Reports in Genetics No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058501
American Medical Association (AMA)
Jerath, Nivedita U.& Crockett, Cameron D.& Moore, Steven A.& Shy, Michael E.& Weihl, Conrad C.& Chou, Tsui-Fen…[et al.]. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058501
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058501