Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family

Can J Neurol Sci. 2020 May;47(3):412-415. doi: 10.1017/cjn.2020.25.
No abstract available

Keywords: Frontotemporal dementia; Inclusion body myopathy; Primary progressive aphasia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aphasia, Primary Progressive / genetics*
  • Aphasia, Primary Progressive / physiopathology
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / pathology
  • DNA-Binding Proteins / metabolism
  • Family
  • Female
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / physiopathology
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / physiopathology
  • Pedigree
  • Phenotype
  • Valosin Containing Protein / genetics*

Substances

  • DNA-Binding Proteins
  • TARDBP protein, human
  • VCP protein, human
  • Valosin Containing Protein