Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Neurology. 2004 Apr 27;62(8):1429-31. doi: 10.1212/01.wnl.0000120664.07186.3c.

Abstract

The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Axons / pathology*
  • Axons / ultrastructure
  • Biopsy
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • DNA Mutational Analysis
  • Electrodiagnosis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Nerve Fibers, Myelinated / pathology
  • Neurofilament Proteins / genetics*
  • Neurofilament Proteins / metabolism*
  • Neurofilament Proteins / ultrastructure
  • Pedigree
  • Sural Nerve / pathology

Substances

  • Neurofilament Proteins
  • neurofilament protein L