Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis

Abstract

Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders. There is much evidence for a role of peroxidation processes in the pathogenesis of NCL, although this would certainly be indirect. Reduced total antioxidant activity of cerebrospinal fluid (CSF) has been reported in NCL. Since ascorbic acid represents a major antioxidant in CSF, we have now determined this parameter in CSF of two patients with the infantile form of NCL (Santavuori-Haltia disease). However, the ascorbic acid values obtained (103.6 and 181.3 microM) are comparable with control values from the literature as well as with those measured in groups of children with neurologic/psychiatric diseases other than NCL (mean +/- standard deviation: 137.1+/-41.3 microM), with suspected (but excluded) meningitis (124.1+/-34.0 microM) and acute lymphoblastic leukemia (131.7+/-17.0 microM). Our results indicate that CSF ascorbic acid concentrations are not affected by peroxidation processes in infantile NCL, but reveal a sharply decreased ascorbic acid concentration in one of the non-NCL patients, possibly associated with his convulsions and/or his anticonvulsant therapy.