, Volume 4, Issue 1, pp 1–15

Molecular cell biology of Charcot-Marie-Tooth disease


  • Philipp Berger
    • Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH-Hönggerberg, 8093 Zürich
  • Peter Young
    • Department of Neurology, University of Münster, 48129 Münster
  • Ueli Suter
    • Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH-Hönggerberg, 8093 Zürich
Review Article

DOI: 10.1007/s10048-002-0130-z

Cite this article as:
Berger, P., Young, P. & Suter, U. Neurogenetics (2002) 4: 1. doi:10.1007/s10048-002-0130-z


Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathies, includes a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Traditionally, the different classes of CMT have been divided into demyelinating forms (CMT1, CMT3, and CMT4) and axonal forms (CMT2), a clinically very useful distinction. However, investigations of the underlying molecular and cellular disease mechanisms, mainly accomplished using cell culture and animal models, as well as specific re-examination of appropriate patient cohorts, have revealed that the pathological signs of myelinopathies and axonopathies are often intermingled. These findings, although only recently fully appreciated, are not surprising given the dependence and intimate cellular interactions of Schwann cells and neurons, mainly during nerve development and, as indicated by the pathology of CMT, also in the adult organism. This review is intended to summarize our current knowledge about the molecular and cellular basis of CMT, with a particular emphasis on the role of Schwann cell/axon interactions. Such a view is particularly timely since approximately ten genes have now been identified as culprits in different forms of CMT. This collection revealed novel crucial players in the interplay between Schwann cells and neurons. The analysis of these genes and their encoded proteins will provide additional insights into the molecular and cellular basis of neuropathies and valuable information about the biology and interactions of Schwann cells, their associated neurons, endoneurial fibroblasts, and the nerve-surrounding and protecting perineurial sheath.

Charcot-Marie-Tooth disease Peripheral nervous system Myelinopathy Axonopathy Schwann cells

Copyright information

© Springer-Verlag 2002