Retinal Degenerative Diseases
Retinal Degenerative Diseases
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视网膜退行性疾病
DOI：
10.1007/978-3-319-75402-4_12
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Kleine Holthaus S
中科院分区：
文献类型：
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作者：
Kleine Holthaus S
神经元蜡样质脂褐质沉积症（NCL）是一组致死性的遗传性溶酶体贮积症，主要影响儿童的中枢神经系统。症状包括视力丧失、癫痫发作、运动功能退化和认知能力下降，最终导致过早死亡。在动物模型中的研究表明，这些疾病适合于基因补充疗法，并且在过去十年中，这些疗法的临床前开发取得了重大进展。这篇简短的综述总结并讨论了目前针对大脑和眼睛的NCL基因治疗方法。
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.