AMONG the degenerative diseases of the nervous system of metabolic origin, there is a group of conditions in which substances accumulate to excess within neurons. In some of these processes, the nature of the stored material has been well characterized. In Tay-Sachs disease, the accumulation of a particular ganglioside is well-documented. Recently, there have been suggestions about the nature of the enzymatic defect; for example, the dysfunction of a catabolic enzyme, a lipid hexoseaminidase1 (oral communication, with L. Svennerholm, MD, May 1968). In other diseases, the fact that there is storage of some material is well-documented, but the composition of the stored material and the nature of the metabolic defect is not known. An example of this type of disease is the late infantile form of neuronal storage disease.
The study of the neuronal storage diseases is handicapped by the fact that not all cells show the storage
McKhann GM, Ho W, Varon S, Raiborn C. The Isolation of Neurons From Normal and Abnormal Human Cerebral Cortex. Arch Neurol. 1969;20(5):542–547. doi:10.1001/archneur.1969.00480110106011
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