title: Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease.
abstract: 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.
authors.affiliation: Children's Hospital, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: H
authors.initials: H
authors.lastname: Heiskala
authors.forename: T
authors.initials: T
authors.lastname: Westermarck
authors.forename: K
authors.initials: K
authors.lastname: Sainio
authors.forename: R
authors.initials: R
authors.lastname: Moren
mesh_terms: D000293:Adolescent; D000975:Antioxidants / Q000627:therapeutic use*; D001205:Ascorbic Acid / Q000627:therapeutic use; D002084:Butylated Hydroxytoluene / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008715:Methionine / Q000627:therapeutic use; D009472:Neuronal Ceroid-Lipofuscinoses / Q000188:drug therapy* / Q000503:physiopathology; D014810:Vitamin E / Q000627:therapeutic use
chemical_list: D000975:Antioxidants; D014810:Vitamin E; D002084:Butylated Hydroxytoluene; D008715:Methionine; D001205:Ascorbic Acid