Neurogenetics of Pelizaeus-Merzbacher disease.

Handbook of Clinical Neurology
M Joana Osorio, Steven A Goldman

Abstract

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death. PMD has been classified into three major subtypes, according to the age of presentation: connatal PMD, classic PMD, and transitional PMD, combining features of both connatal and classic forms. Two other less severe phenotypes were subsequently described, including the spastic paraplegia syndrome and PLP1-null disease. These disorders may be associated with duplications, as well as with point, missense, and null mutations within the PLP1 gene. A number of clinically similar Pelizaeus-Merzbacher-like disorders (PMLD) are considered in the differential diagnosis of PMD, the most prominent of which is PMLD-1, caused by misexpression of the GJC2 gene encoding connexin-47. No effective therapy for PMD exists. Yet, as a relatively pure central nervous system hypomyelinating disorder, with limited involvement of the peripheral...Continue Reading

Citations

Oct 22, 2019·Glia·Konstantina ChanoumidouTanja Kuhlmann
Aug 23, 2020·International Journal of Molecular Sciences·Maryam GulAmmar Chaudhry
Jul 5, 2019·Molecular Biology Reports·Marta Owczarek-LipskaJohn Neidhardt
Aug 25, 2020·Tremor and Other Hyperkinetic Movements·Daniel Martinez-RamirezUNKNOWN Rare Movement Disorders Study Group of International Parkinson’s Disease
Jan 27, 2021·Academic Radiology·Christopher J HealdPaul M Bunch
Mar 27, 2021·Stem Cell Reports·Konstantina ChanoumidouTanja Kuhlmann
Jul 10, 2021·Frontiers in Cellular Neuroscience·Georg von JonquieresGary D Housley
Jul 3, 2021·International Journal of Molecular Sciences·Beomjong SongSangsu Bae
Aug 9, 2021·Neurobiology of Disease·Larry S ShermanAnne D Lewis
Dec 4, 2021·Acta Neuropathologica·Luise A Seeker, Anna Williams

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