Journal article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
Brain (London, England : 1878), Vol.137(Pt 11), pp.2897-2902
11/2014
DOI: 10.1093/brain/awu224
PMCID: PMC4208462
PMID: 25125609
Abstract
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.
Details
- Title: Subtitle
- A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
- Creators
- Michael A Gonzalez - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAShawna M Feely - 2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAFiorella Speziani - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAAlleene V Strickland - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAMatt Danzi - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAChelsea Bacon - 2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAYoujin Lee - 3 Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USATsui-Fen Chou - 4 Division of Medical Genetics, Department of Paediatrics, Harbor-UCLA Medical Centre and Los Angeles Biomedical Research Institute, Torrance, CA 90502, USASusan H Blanton - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAConrad C Weihl - 3 Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USAStephan Zuchner - 1 Dr John T Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA michael-shy@uiowa.edu szuchner@med.miami.eduMichael E Shy - 2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA michael-shy@uiowa.edu szuchner@med.miami.edu
- Resource Type
- Journal article
- Publication Details
- Brain (London, England : 1878), Vol.137(Pt 11), pp.2897-2902
- Publisher
- England
- DOI
- 10.1093/brain/awu224
- PMID
- 25125609
- PMCID
- PMC4208462
- ISSN
- 0006-8950
- eISSN
- 1460-2156
- Grant note
- AG042095 / NIA NIH HHS U54NS065712 / NINDS NIH HHS K02 AG042095 / NIA NIH HHS AG031867 / NIA NIH HHS R01NS075764 / NINDS NIH HHS UL1TR000124 / NCATS NIH HHS R01 AG031867 / NIA NIH HHS UL1 TR000124 / NCATS NIH HHS
- Language
- English
- Date published
- 11/2014
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984014019202771
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