Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

Neurol Sci. 2015 Jun;36(6):1003-6. doi: 10.1007/s10072-014-2050-8. Epub 2014 Dec 30.

Abstract

Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Female
  • HSP27 Heat-Shock Proteins / genetics*
  • Heat-Shock Proteins
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • HSP27 Heat-Shock Proteins
  • HSPB1 protein, human
  • Heat-Shock Proteins
  • Molecular Chaperones

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2F