Santavuori P, Heiskala H, Autti T, Johansson E, Westermarck T
Children's Hospital, University of Helsinki, Finland.
Adv Exp Med Biol. 1989;266:273-82. doi: 10.1007/978-1-4899-5339-1_19.
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.
青少年神经元蜡样脂褐质沉积症（JNCL）是一种进行性脑病，其特征是神经和神经外出现类似蜡样质和脂褐质的储存性胞质体蓄积，并呈常染色体隐性遗传。该病始于4至7岁时视力逐渐丧失，并伴有癫痫、运动功能丧失和进行性痴呆（桑塔沃里，1988年）。我们使用科尔施屈特等人（1988年）引入的JNCL疾病特异性评分系统，对26例接受维生素E、B2、B6和亚硒酸钠（抗氧化治疗）的芬兰JNCL患者进行了研究。对视力、智力、语言、运动功能以及癫痫方面的问题进行评分，并与17例未接受抗氧化剂治疗的德国JNCL患者的数据进行比较（科尔施屈特等人，1988年）。芬兰和德国的JNCL患者视力丧失开始时间相同。然而，在接受抗氧化剂治疗的芬兰JNCL患者组中，智力、语言和运动功能丧失以及完全失明出现得较晚。癫痫发作的病程相当不均一，且略有利于芬兰患者。这项研究支持抗氧化治疗可延缓JNCL疾病进展的理论。然而，该研究设计存在许多可能的偏差，因此对结果的解释必须谨慎。
