Gangliosides and Disease: A Review
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From the beginning, research on gangliosides has been closely associated with studies of diseases. Although there had been a few articles which may well have described the compounds which we now know as gangliosides,1,2 discovery of gangliosides is justifiably credited to Klenk, who first discovered them in 1935 in the brain of patients with Niemann-Pick disease3 and then in a larger quantity in the brain of Tay-Sachs disease patients.4 Tay-Sachs disease became the first and then the only genetic disorder of abnormal ganglioside metabolism. During the next three decades, fundamental studies of chemistry and metabolism of gangliosides and studies of genetic diseases of ganglioside metabolism advanced hand in hand to the present state of enormous complexity. The synergistic interactions between basic and clinical sciences have proved to be highly beneficial to both sides. We now know several major groups of genetic gangliosidosis of known enzymatic causes and several more of yet to be characterized genetic variants.
KeywordsTetanus Toxin Subacute Sclerosing Panencephalitis Sandhoff Disease Brain Ganglioside Lafora Disease
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