Lysosomal leukodystrophies lysosomal storage diseases associated with white matter abnormalities
Journal of Child Neurology Apr 17, 2019
Maegawa GHB - Because leukodystrophies are a group of genetic metabolic diseases that are characterized by abnormal development or progressive myelin sheath degeneration, the researcher determined the association of lysosomal storage diseases with white matter abnormalities. Most lysosomal storage diseases are related to neurologic manifestations including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. These inborn organel disorders show wide clinical variability in all age groups affecting individuals. Moreover, several of neurologic, also known as neuronopathic, lysosomal storage diseases are linked to some level of white matter disease, which often triggers the diagnostic investigation. Innovative and effective disease-modifying therapies will certainly result in a better understanding of the mechanisms resulting in leukodystrophy.
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