Rüther K
Arbeitsbereich Strabologie/Neuroophthalmologie, Augenklinik, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
Ophthalmologe. 2010 Jul;107(7):621-7. doi: 10.1007/s00347-009-2108-9.
Neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative diseases leading to early death. They belong to the group of lysosomal storage diseases. Epileptic seizures, dementia and motor deficits are frequent symptoms which are to be found prior to a total dismantling of personality and death. At present 10 subtypes of NCL can be distinguished from which the genetic defect is known in eight. The encoded proteins are soluble or membrane proteins whose function is still unclear in most cases. The investigation of the pathology and pathophysiology of NCL is highly dependent on animal models. Mouse models existing for all forms with a known genetic defect play a prominent role. Unfortunately, the retinal phenotype of some mouse models is milder than in humans rendering the appreciation of a positive therapeutic effect more difficult. Because of the severity of NCL, therapy strategies only established in a mouse model will be transferred to humans very quickly.
神经元蜡样脂褐质沉积症（NCL）是导致早亡的严重神经退行性疾病。它们属于溶酶体贮积病。癫痫发作、痴呆和运动功能障碍是常见症状，在人格完全解体和死亡之前就会出现。目前可区分出10种NCL亚型，其中8种的基因缺陷已为人所知。所编码的蛋白质是可溶性或膜蛋白，在大多数情况下其功能仍不清楚。NCL的病理学和病理生理学研究高度依赖动物模型。针对所有已知基因缺陷形式的小鼠模型发挥着重要作用。不幸的是，一些小鼠模型的视网膜表型比人类的要轻，这使得评估积极的治疗效果更加困难。由于NCL的严重性，仅在小鼠模型中确立的治疗策略将很快应用于人类。
