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

Claudia Stancanelli, Gian Maria Fabrizi, Moreno Ferrarini, Tiziana Cavallaro, Federica Taioli, Rita Di Leo, Massimo Russo, Luca Gentile, Antonio Toscano, Giuseppe Vita, Anna Mazzeo

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1003-1006
Number of pages4
JournalNeurological Sciences
Volume36
Issue number6
DOIs
Publication statusPublished - Dec 30 2014

Keywords

  • CMT2F
  • Deafness
  • HSP27
  • Pyramidal signs

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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