ascorbic-acid and Neuronal-Ceroid-Lipofuscinoses

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.

Topics: Ascorbic Acid; Child; Child, Preschool; Developmental Disabilities; Female; Humans; Infant; Male; Mental Disorders; Nervous System Diseases; Neuronal Ceroid-Lipofuscinoses; Reference Values

The etiology of the juvenile type of the human ceroid-lipofuscinosis (JCL) is unknown, in spite of the fact that the first report of this disease was given more than 160 years ago. The necessity of good animal models for scientific progress in chronic metabolic diseases in humans is obvious. The inbred strain of English setter with ceroid-lipofuscinosis (CCL) seems to be a perfect model for human JCL. Dogs with CCL and organs for research purposes are available from Dr. Koppang's experimental kennel in Norway.

Topics: Animals; Ascorbic Acid; Bone Marrow Transplantation; Brain; Butylated Hydroxytoluene; Disease Models, Animal; Dogs; Electroencephalography; Female; Humans; Infant; Liver Transplantation; Male; Methionine; Neuronal Ceroid-Lipofuscinoses; Pigment Epithelium of Eye; Vitamin E

During the last 17 yr, 74 patients with Spielmeyer-Sjögren disease were treated in Finland with antioxidant supplementation. Twenty-seven patients received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same combination was also given to 47 children (During the last 5-6 yr, vitamins B2 and B6 were also added.) who had not received previous antioxidant supplementation. The latter combination (called the Westermarck formula) appeared to be helpful to some patients. Statistical correlations between various neurological items and relevant laboratory data were sought. In the older patients a significant correlation was found between neurological dysfunction and ceruloplasmin, and also between epilepsy and ceruloplasmin, while a negative correlation was noticed between neurological dysfunction and glutathione peroxidase. In the younger patients, a negative correlation was observed between superoxide dismutase and epilepsy. Serum apolipoprotein B levels were below the normal range in the 6 patients investigated. So far the Westermarck formula seems to have been the best treatment devised yet in Spielmeyer-Sjögren disease, but further studies are needed for a better understanding of the pathogenesis of neuronal ceroid-lipofuscinoses disorders.

Topics: Adolescent; Antioxidants; Ascorbic Acid; Butylated Hydroxytoluene; Drug Therapy, Combination; Female; Follow-Up Studies; Humans; Male; Methionine; Neuronal Ceroid-Lipofuscinoses; Vitamin E

The data for 125 patients with Spielmeyer-Sjögren's disease is presented. Antioxidant therapy was given to 49. 27 received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same therapy was also given to 22 children who had not received previous antioxidant supplementation. The number of positive and negative responses was nearly equal in the 2 treatment groups. However, the quality of the response was better in the selenite group and it has been possible in some cases to stop for several years, at least, the deterioration which began during the original therapy.

Topics: Adolescent; Adult; Antioxidants; Ascorbic Acid; Butylated Hydroxytoluene; Child; Drug Therapy, Combination; Electroencephalography; Evoked Potentials; Female; Follow-Up Studies; Humans; Intelligence; Male; Methionine; Neuronal Ceroid-Lipofuscinoses; Neuropsychological Tests; Selenious Acid; Selenium; Vitamin E