TY - JOUR A2 - Morrison, Patrick AU - Jerath, Nivedita U. AU - Crockett, Cameron D. AU - Moore, Steven A. AU - Shy, Michael E. AU - Weihl, Conrad C. AU - Chou, Tsui-Fen AU - Grider, Tiffany AU - Gonzalez, Michael A. AU - Zuchner, Stephan AU - Swenson, Andrea PY - 2015 DA - 2015/03/23 TI - Rare Manifestation of a c.290 C>T, p.Gly97GluVCPMutation SP - 239167 VL - 2015 AB - Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCPmutations 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 VCPmutation 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 VCPmutation. SN - 2090-6544 UR - https://doi.org/10.1155/2015/239167 DO - 10.1155/2015/239167 JF - Case Reports in Genetics PB - Hindawi Publishing Corporation KW - ER -