Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

Neurology. 2000 Apr 25;54(8):1696-8. doi: 10.1212/wnl.54.8.1696.

Abstract

Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / complications*
  • Cranial Nerve Diseases / genetics*
  • DNA-Binding Proteins / genetics*
  • Early Growth Response Protein 2
  • Evoked Potentials, Auditory, Brain Stem
  • Female
  • Hearing Loss, Sensorineural / etiology
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction
  • Sural Nerve / pathology
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • EGR2 protein, human
  • Early Growth Response Protein 2
  • Transcription Factors

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