Sands Mark S
Departments of Internal Medicine and Genetics, Washington University School of Medicine, St. Louis, MO, USA.
J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.
The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in many cell types, particularly neurons of the central nervous system. Clinical signs of infantile neuronal ceroid lipofuscinosis appear between 6 months and 1 year of age and include vision loss, cognitive decline, motor deficits, seizures, and premature death, typically by 3 to 5 years of age. There is currently no effective treatment. However, preclinical experiments in the murine model of infantile neuronal ceroid lipofuscinosis have shown that gene therapy, enzyme replacement, stem cell transplantation, and small-molecule drugs, alone or in combination, can significantly slow disease progression. A more thorough understanding of the underlying pathogenesis of infantile neuronal ceroid lipofuscinosis will identify new therapeutic targets.
婴儿型神经元蜡样脂褐质沉积症（即婴儿型巴滕病）是进展最为迅速的类型，由溶酶体酶棕榈酰蛋白硫酯酶1遗传性缺乏所致。酶活性缺失导致自荧光物质在多种细胞类型中进行性蓄积，尤其是中枢神经系统的神经元。婴儿型神经元蜡样脂褐质沉积症的临床症状出现在6个月至1岁之间，包括视力丧失、认知衰退、运动功能障碍、癫痫发作，通常在3至5岁时过早死亡。目前尚无有效治疗方法。然而，婴儿型神经元蜡样脂褐质沉积症小鼠模型的临床前实验表明，基因治疗、酶替代、干细胞移植和小分子药物单独或联合使用，可显著减缓疾病进展。对婴儿型神经元蜡样脂褐质沉积症潜在发病机制的更深入了解将有助于确定新的治疗靶点。
