Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A

J Neuropathol Exp Neurol. 2007 Nov;66(11):1027-36. doi: 10.1097/NEN.0b013e3181598294.

Abstract

Electron microscopic examination was performed to compare morphologic changes of nonmyelinating Schwann cells and unmyelinated axons in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with peripheral myelin protein 22 duplication (n = 27) and normal control individuals (n = 14). Complete transverse sural nerve cross-sections were obtained in 16 patients and the total number of axons and Schwann cells in each cross-section was estimated. In patients with CMT1A, the number of myelinated axons was significantly decreased, whereas unmyelinated axons were well-preserved and did not show any marked changes. The numbers of nuclei, subunits, and profiles of nonmyelinating Schwann cells were all increased significantly in patients with CMT1A, whereas the numbers of axons per unmyelinated axon-containing subunit were significantly decreased. Schwann cell subunits consisted of layers of flattened cytoplasmic profiles wrapped around unmyelinated axons in the patient with CMT1A. The numbers of nonmyelinating Schwann cell profiles were increased and the numbers of axons per unmyelinated axon-containing subunit were reduced even in young patients with well-preserved myelinated fibers. In conclusion, there is marked alteration of the population and morphology of nonmyelinating Schwann cells, and axon-Schwann cell interactions seem to be regulated differently between myelinated and unmyelinated fibers in CMT1A.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Axons / ultrastructure*
  • Charcot-Marie-Tooth Disease / ultrastructure*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Microscopy, Electron, Transmission
  • Middle Aged
  • Nerve Fibers, Myelinated / ultrastructure
  • Nerve Fibers, Unmyelinated / ultrastructure*
  • Schwann Cells / ultrastructure*
  • Sural Nerve / ultrastructure