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Lipid Storage Disorders of the Central Nervous System

Am J Dis Child. 1962;104(6):680-694. doi:10.1001/archpedi.1962.02080030680014.
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In the past 20 years, considerable advance has been made in the elucidation of the genetically determined lipid storage disorders involving the central nervous system. Improved qualitative and quantitative methods of lipid assay have provided a clearer picture of the nature of the abnormally stored metabolites in these storage disorders; the pathophysiology remains obscure. The purpose of this seminar is to review some of the newer clinical and biochemical findings in this group of disorders of lipid metabolism and to consider briefly theories for their existence and possible approaches to a therapeutic regimen.

The gray matter of the central nervous system incorporates all the neurons or cell bodies and is enclosed everywhere by the white matter except at the level of the cerebral cortex. The white matter consists of the projecting axon filaments, their myelin sheaths, and connective tissue supportive elements. The lipid storage disorders to be discussed severely affect


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