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Pediatr Neurol. 2001 Jan;24(1):11-24.

Update on genetic disorders affecting white matter.

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Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA.


The classification of diseases affecting white matter has changed dramatically with the use of magnetic resonance imaging. Classical leukodystrophies, such as metachromatic leukodystrophy and Krabbe's disease, account for only a small number of inherited diseases that affect white matter. Magnetic resonance imaging has clarified genetic disorders that result in white matter changes or leukoencephalopathies. The term leukoencephalopathy is used to reflect the broader number of diseases that may cause as either primary or secondary changes in myelin development. This review attempts to categorize white matter disorders into classes such as lipid, myelin protein, organic acids, and defects in energy metabolism, in addition to other causes.

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