UCL Institute of Ophthalmology, Department of Genetics & NIHR BRC at Moorfields Eye Hospital, London, UK.
MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, Department of Genetics, Evolution and Environment, University College London, London, UK.
Adv Exp Med Biol. 2018;1074:91-99. doi: 10.1007/978-3-319-75402-4_12.
Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, inherited lysosomal storage disorders mostly affecting the central nervous system of children. Symptoms include vision loss, seizures, motor deterioration and cognitive decline ultimately resulting in premature death. Studies in animal models showed that the diseases are amenable to gene supplementation therapies, and over the last decade, major advances have been made in the (pre)clinical development of these therapies. This mini-review summarises and discusses current gene therapy approaches for NCL targeting the brain and the eye.
神经元蜡样脂褐质沉积症（NCLs）是一组致命的遗传性溶酶体贮积症，主要影响儿童的中枢神经系统。其症状包括视力丧失、癫痫发作、运动恶化和认知能力下降，最终导致过早死亡。动物模型研究表明，这些疾病可以通过基因补充疗法来治疗，在过去十年中，这些疗法的（临床前）开发取得了重大进展。本综述总结和讨论了目前针对大脑和眼睛的 NCL 的基因治疗方法。
