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- W15078367 abstract "Many forms of inherited leukodystrophies are now known, each characterized by specific biochemical and molecular abnormalities. The end result may be hypomyelination, i.e., the failure to form specific myelin proteins; delay in myelination attributable to an inadequate supply of myelin precursors or accumulation of substances toxic to oligodendroglia; demyelination with loss of normally formed myelin; vacuolating myelinopathy, wherein degenerating white matter is replaced by fluid and vacuolization; and secondary demyelination with destruction of both axons and myelin. Clinical signs may develop after a period of normal development. These can include abnormalities in behavior, cognition and memory, long tract signs, optic atrophy, peripheral neuropathy and macro- or microcephaly. Their clinical delineation is facilitated by magnetic resonance imaging (MRI), including the use of diffusion-weighted imaging and MR spectroscopy (MRS). Genetic leukodystrophies are progressive and can produce specific patterns of abnormality on MRI that help to distinguish them. The loss of myelin is accompanied by an increase in water, causing a decrease in the white matter signal on T1-weighted images and an increase on T2-weighted images. The finding of a leukodystrophy by MRI presymptomatically can provide the clinician with a window of opportunity to intervene therapeutically prior to overt clinical signs. This is particularly relevant for metachromatic leukodystrophy, globoid cell leukodystrophy, and X-linked adrenoleukodystrophy, each of which may respond to hematopoietic stem cell transplantation if treated early in the clinical course.Key WordsLeukodystrophyhypomyelinationdemyelinationvacuolating myelinopathydiffusion-weighted imagingMR spectroscopy" @default.
- W15078367 created "2016-06-24" @default.
- W15078367 creator A5049974643 @default.
- W15078367 date "2007-11-03" @default.
- W15078367 modified "2023-09-25" @default.
- W15078367 title "Overview of the Leukoencephalopathies" @default.
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- W15078367 doi "https://doi.org/10.1007/978-1-59259-888-5_18" @default.
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