title: Comparison of the clinical courses in patients with juvenile neuronal ceroid lipofuscinosis receiving antioxidant treatment and those without antioxidant treatment.
abstract: Juvenile neuronal ceroid-lipofuscinosis (JNCL) is a progressive encephalopathy characterized by a neural and extraneural accumulation of ceroid and lipofuscin like storage cytosomes and by an autosomal recessive inheritance. It begins with a gradual loss of vision at the age of 4-7 years and is accompanied by epilepsy, a loss of motor function, and a progressive dementia (Santavuori 1988). We have studied 26 Finnish JNCL patients treated with vitamins E, B2, B6 and sodium selenite (antioxidant treatment) by using a JNCL disease specific scoring system introduced by Kohlschütter et al. (1988). Scores were given for the problems of vision, intellect, language, motor function, as well as epilepsy, and compared with the data of 17 German JNCL patients not treated with antioxidants (Kohlschütter et al. 1988). Loss of vision began at the same time among the Finnish and the German JNCL patients. However, loss of intellectual, language, and motor functions and total blindness occurred later among the group of Finnish JNCL patients treated with antioxidants. Courses of the epileptic seizures were rather heterogenous and slightly favouring the Finnish patients. This study supports the theory that antioxidant treatment retards JNCL disease. The study design, however, contains many possible biases, so that the results must be interpreted cautiously.
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: Autti
authors.forename: E
authors.initials: E
authors.lastname: Johansson
authors.forename: T
authors.initials: T
authors.lastname: Westermarck
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use*; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000188:drug therapy*; D012720:Severity of Illness Index
chemical_list: D000975:Antioxidants