Myelin pp 301-321 | Cite as

Schwann Cell and the Pathogenesis of Charcot–Marie–Tooth Disease

  • Tatsufumi MurakamiEmail author
  • Yoshihide Sunada
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1190)


Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy and genetically heterogeneous. CMT1 and CMTX are autosomal dominant and X-linked demyelinating neuropathies, respectively. CMT1A, CMT1B, and CMTX1 are the common forms of CMT, which are attributed to the genes encoding the myelin or gap junction proteins expressed in the myelinating Schwann cells. CMT4 is a rare autosomal recessive demyelinating neuropathy that usually shows an early-onset severe phenotype. Twelve genes have been described as CMT4, which encodes many kinds of proteins including mitochondrial proteins, phosphatases in the endosomal pathway, endocytic recycling proteins, and trafficking proteins. The genes responsible for CMT4 are expressed in Schwan cells and necessary for the development and maintenance in the peripheral nervous system. However, CMT1, CMT4, and CMTX1 are primarily demyelinating neuropathies, axonal degeneration is necessary for symptoms to develop. Schwann cell–axon interactions are impaired in the pathogenesis of demyelinating CMT.


Charcot–Marie–Tooth disease Demyelinating neuropathy Peripheral nerve Schwann cell 



This work is supported by Research Project Grants from Kawasaki Medical School [29-046] and KAKENHI [16K09686]. We thank Mr. Masatomo Yamada (Kawasaki Medical School) for preparing the tables.


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of NeurologyKawasaki Medical SchoolKurashikiJapan

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