[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]

Rinsho Shinkeigaku. 2008 Jun;48(6):419-21. doi: 10.5692/clinicalneurol.48.419.
[Article in Japanese]


We report herein a 54-year-old man who first noticed muscle weakness of the hands and legs and hypesthesia of the legs at 20-years-old. Symptoms gradually worsened. Charcot-Marie-Tooth disease type 1A (CMT 1A) was diagnosed on the basis of a nerve conduction study and PMP22 gene duplication. Increased levels of cerebrospinal fluid proteins were identified and cervical and lumbosacral nerve root hypertrophy was evident on magnetic resonance imaging (MRI). CMT 1A with increased CSF proteins and nerve root hypertrophy was carefully evaluated clinically and electrophysiologically to rule out other motor sensory neuropathies such as CIDP. Increased levels of CSF proteins in this case might have resulted from circulatory disturbance of CSF in hypertrophic nerve roots.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Biomarkers / cerebrospinal fluid
  • Cerebrospinal Fluid Proteins / cerebrospinal fluid*
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / pathology
  • Diagnosis, Differential
  • Diagnostic Techniques, Neurological
  • Electrophysiology
  • Gene Duplication
  • Humans
  • Hypertrophy
  • Lumbosacral Region / innervation
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Molecular Diagnostic Techniques
  • Myelin Proteins / genetics
  • Neural Conduction
  • Spinal Nerve Roots / pathology*


  • Biomarkers
  • Cerebrospinal Fluid Proteins
  • Myelin Proteins
  • PMP22 protein, human