Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease

Exp Neurol. 2004 Nov;190(1):213-23. doi: 10.1016/j.expneurol.2004.07.008.

Abstract

We investigated early peripheral nervous system impairment in PMP22-transgenic rats ("CMT rat"), an established animal model for Charcot-Marie-Tooth disease 1A, at postnatal day 30 (P30), when the clinical phenotype is not yet apparent. Hemizygous CMT1A rats and wildtype littermates were studied by means of behavioral examination, electrophysiology, molecular biology, and light microscopy analysis. Behavioral studies only showed, a mild, but significant, decrease in toe spread 1-5, suggesting a weakness of distal foot muscles in CMT1A rats compared with normal littermates. Nerve conduction studies disclosed a severe slowing in motor conduction velocity, a temporal dispersion and a dramatic decrease of amplitude of motor waves in P30 transgenic animals. Coherently with a demyelinating process, affected nerves showed a significant thinning of myelin. Interestingly, axonal diameter and area were unchanged, but expression of non-phosphorylated neurofilaments was increased in CMT1A rats compared with normal controls. Our results confirm the fidelity of this animal model to human disease. Similarly, in young CMT1A patients, the MCV is significantly reduced and the muscle weakness is confined to distal segments, whereas morphological and morphometrical signs of axonal atrophy are absent. However, the presence of a molecular and functional damage of the axons suggests that this may be the correct moment to start neuroprotective therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Animals
  • Animals, Genetically Modified
  • Axons / pathology
  • Behavior, Animal
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Disease Models, Animal
  • Disease Progression
  • Electrophysiology
  • Genetic Predisposition to Disease
  • Mice
  • Motor Activity / genetics
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Myelin Proteins / genetics
  • Myelin Sheath / pathology
  • Neural Conduction / genetics
  • RNA, Messenger / analysis
  • RNA, Messenger / metabolism
  • Rats
  • Rats, Sprague-Dawley
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sciatic Nerve / pathology
  • Sciatic Nerve / physiopathology
  • Sciatic Neuropathy / genetics
  • Sciatic Neuropathy / pathology
  • Sciatic Neuropathy / physiopathology*

Substances

  • Myelin Proteins
  • Pmp22 protein, mouse
  • RNA, Messenger

Grants and funding