The Genetics of Myelination in Metabolic Brain Disease: The Leukodystrophies

  • John W. Rumsey


The formation of brain myelin is of paramount importance to the proper development, survival and functioning of neurons. Myelination, consequently, is a highly regulated process dependent on the expression and temporal regulation of many genes, proteins and metabolites, as well as an adequate nutritional environment to support the postnatal brain growth spurt. Consequently, myelination is vulnerable to a wide range of perturbations. Reviews of the mechanisms and effects of myelin disorders are numerous. Here, the focus is specifically on genetic mutations affecting various cellular compartments in neuronal cells that result in either demyelination or dysmyelination. Collectively, these diseases, categorized as leukodystrophies, represent an ongoing public health problem in both developed and developing nations.


Leukodystrophies are a broad class of diseases encompassing genetic metabolic abnormalities of the oligodendrocyte that result in either...


Canavan Disease Twitcher Mouse Globoid Cell Leukodystrophy ASPA Gene ABCD1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • John W. Rumsey
    • 1
  1. 1.Department of Biomolecular Sciences, Research PavilionUniversity of CentralFlorida, OrlandoUSA

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