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Neuronal ceroid-lipofuscinosis

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neuronal ceroid-lipofuscinosis

A heritable lipidosis with cytoplasmic inclusions staining for ceroid and lipofuscin. Clinically the patient has progressive dementia, retinal degeneration, seizures, and myoclonic jerks. It was formerly thought to be related to tay-sachs disease but the biochemical defect is as yet undetermined. Named according to age of onset: jansky-bielschowsky disease, 2-4 years; batten-spielmeyer-vogt disease, 5-11 years; and kufs disease, adult.