脊髓小脑性共济失调的发病机制及治疗靶点研究进展  

Recent advances in pathogenesis and therapeutic targets of spinocerebellar ataxia

作　　者：王康 张琰 赵慧 邵龙 冯玲玲 赵同 Wang Kang;Zhang Yan;Zhao Hui;Shao Long;Feng Lingling;Zhao Tong(Department of Neurology,Second Affiliated Hospital of Shandong First Medical University,Taian 271000,China;Department of Endocrinology,First People's Hospital of Taian,Taian 271000,China;Department of Imaging,Second Affiliated Hospital of Shandong First Medical University,Taian 271000,China)

机构地区：[1]山东第一医科大学第二附属医院神经内科,泰安271000 [2]泰安市第一人民医院内分泌科,泰安271000 [3]山东第一医科大学第二附属医院影像科,泰安271000

出　　处：《中华神经医学杂志》2024年第5期526-533,共8页Chinese Journal of Neuromedicine

摘　　要：脊髓小脑性共济失调(SCA)是一组多呈常染色体显性遗传的进行性加重的神经系统退行性疾病,小脑性共济失调是其核心症状,可伴有锥体束体征、锥体外系体征、认知功能障碍及周围神经病变等。目前SCA虽可以通过基因检测进行精准诊断,但在治疗上仍较为困难。本文现围绕遗传学或基因调控异常、蛋白质质量控制(PQC)网络破坏、能量稳态破坏等以及维持PQC系统稳定、维持小脑浦肯野细胞功能、调控神经炎症等方面,对近年来SCA的发病机制及治疗靶点研究进展进行综述,以期更好地促进其从临床前研究到人体治疗的转化。Spinocerebellar ataxia(SCA)is a group of progressively aggravated neurodegenerative disease with autosomal dominant inheritance.Cerebellar ataxia is the core symptom,which may be accompanied by pyramidal tract signs,extrapyramidal signs,cognitive dysfunction and peripheral neuropathy.Although SCA can be accurately diagnosed by genetic testing,treatment is still difficult.We review the pathogenesis and therapeutic targets of SCA in recent years,in terms of genetic or gene regulation abnormalities,disruption of protein quality control(PQC)network,disruption of energy homeostasis,stability maintenance of PQC system,maintenance of cerebellar Purkinje cell function,and regulation of neuroinflammation,so as to promote the transformation of preclinical research into human therapy.

关 键 词：脊髓小脑性共济失调 自噬 基因沉默 神经炎症 浦肯野细胞 

分 类 号：R744.7[医药卫生—神经病学与精神病学]