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Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes

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Myelin

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1190))

Abstract

Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These mutations in the PLP1 gene result in distinct cellular and molecular pathologies and a spectrum of clinical phenotypes. In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how different PLP1 mutations disrupt the normal process of myelination and result in PMD and other disorders.

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  1. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

    Ken Inoue

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Correspondence to Ken Inoue .

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

    Kazunori Sango

  2. Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Science, Hachioji, Tokyo, Japan

    Junji Yamauchi

  3. Department of Rehabilitation for the Movement Functions, Research Institute, National Rehabilitation Center, Tokorozawa, Saitama, Japan

    Toru Ogata

  4. Department of Neuroscience, Cell Biology, and Physiology, Boonshoft School of Medicine, Wright State University, Dayton, OH, USA

    Keiichiro Susuki

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Inoue, K. (2019). Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes. In: Sango, K., Yamauchi, J., Ogata, T., Susuki, K. (eds) Myelin. Advances in Experimental Medicine and Biology, vol 1190. Springer, Singapore. https://doi.org/10.1007/978-981-32-9636-7_13

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