title: Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
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.
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Nivedita U
authors: NU
authors: Jerath
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Cameron D
authors: CD
authors: Crockett
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA ; Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Steven A
authors: SA
authors: Moore
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Michael E
authors: ME
authors: Shy
authors: Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors: Conrad C
authors: CC
authors: Weihl
authors: Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Centre, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA.
authors: Tsui-Fen
authors: TF
authors: Chou
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Tiffany
authors: T
authors: Grider
authors: 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.
authors: Michael A
authors: MA
authors: Gonzalez
authors: 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.
authors: Stephan
authors: S
authors: Zuchner
authors: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors: Andrea
authors: A
authors: Swenson