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Schwann Cell Development and Pathology pp 81–101Cite as

Charcot-Marie-Tooth Disease

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Abstract

Charcot-Marie-Tooth (CMT) disease is the most common disorder in hereditary peripheral nerve neuropathy. Depending on the clinical manifestation, the disease is divided into demyelinating type (CMT1, with autosomal dominant inheritance, and CMT4, with autosomal recessive inheritance), axonal type (CMT2, including both autosomal dominant and autosomal recessive inheritance), and combined type (dominant-intermediate CMT). To date, more than 40 genes have been reported in this field and for some of the causative genes more than 100 mutation sites have been identified. The relationship between genotype and phenotype is variable, with different clinical manifestations resulting from the same mutated gene.

Although our understanding of the pathogenesis of CMT remains limited, accumulating knowledge about the genetic etiology of this disease has provided information about both physiological and pathological myelin formation. In demyelinating CMT, Schwann cell functions are primarily impaired. Various causative mutant proteins are perceived to result in impairment of fundamental cell function during myelination and maintenance; myelin production, degradation of myelin protein (physiological or excessive), and endocytosis. These findings suggest that myelination requires precise regulation of a large amount of myelin proteins. This understanding of the underlying molecular mechanisms is expected to contribute to development of novel therapies for this hereditary neuropathy. Therapeutic approaches are being attempted in which the physiological function of Schwann cells is supported, impaired cell function is modified, and gene expressions are modified.

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  1. Department of Rehabilitation for Movement Functions, Research Institute, National Rehabilitation Center for Persons with Disabilities, 4-1 Namiki, Tokorozawa, Saitama, 359-8555, Japan

    Toru Ogata

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  1. Department of Sensory and Motor Systems, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan

    Kazunori Sango

  2. Department of Pharmacology, National Research Institute for Child Health and Development, Tokyo, Japan

    Junji Yamauchi

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Ogata, T. (2014). Charcot-Marie-Tooth Disease. In: Sango, K., Yamauchi, J. (eds) Schwann Cell Development and Pathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-54764-8_6

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