A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions

Clin Neurol Neurosurg. 2011 Apr;113(3):243-4. doi: 10.1016/j.clineuro.2010.10.015. Epub 2011 Feb 1.


Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles. We report here a novel MPZ homozygous mutation, with a peculiar pattern characterized by a late-onset demyelinating profile. In addition, the patient presented brain white matter lesions seemingly ascribable to the mutation.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Brain / pathology*
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology
  • Female
  • Homozygote
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / physiology*
  • Myelin P0 Protein / genetics*
  • Nervous System Diseases / etiology
  • Nervous System Diseases / genetics
  • Polyneuropathies / pathology*


  • Myelin P0 Protein