Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

Nat Med. 2004 Apr;10(4):396-401. doi: 10.1038/nm1023. Epub 2004 Mar 21.


Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Ascorbic Acid / pharmacology
  • Ascorbic Acid / therapeutic use*
  • Base Sequence
  • Charcot-Marie-Tooth Disease / drug therapy*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology
  • DNA Primers
  • Female
  • Gene Expression Regulation / drug effects
  • Male
  • Mice
  • Myelin Proteins / genetics
  • Phenotype
  • Sciatic Nerve / drug effects
  • Sciatic Nerve / physiopathology


  • DNA Primers
  • Myelin Proteins
  • Pmp22 protein, mouse
  • Ascorbic Acid