A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

Michael A. Gonzalez, Shawna M. Feely, Fiorella Speziani, Alleene V. Strickland, Matt Danzi, Chelsea Bacon, Youjin Lee, Tsui Fen Chou, Susan H. Blanton, Conrad C. Weihl, Stephan Zuchner, Michael E. Shy

Research output: Contribution to journalArticlepeer-review

96 Scopus citations


Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Functional studies showed that the Glu185Lys variant impaired autophagic function leading to the accumulation of immature autophagosomes. VCP mutations should thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2.

Original languageEnglish
Pages (from-to)2897-2902
Number of pages6
Issue number11
StatePublished - Nov 2014


  • Autophagy
  • Hereditary motor and sensory neuropathies
  • Neurodegeneration
  • Neuropathy
  • Whole-exome sequencing


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