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作 者:吴琼[1,2,3] 黄青芸[1,2,3] 谭国鹤 WU Qiong;HUANG Qing-Yun;TAN Guo-He(Center for Translational Medicine,Guangxi Medical University;Key Laboratory of Longevity and Aging-related Diseases of Chinese Ministry of Education;Guangxi Key Laboratory of Brain Research,School of Basic Medical Sciences,Guangxi Medical University,Nanning 530021,China)
机构地区:[1]广西医科大学转化医学研究中心 [2]长寿与老年相关疾病教育部重点实验室 [3]广西医科大学基础医学院,广西脑科学研究重点实验室,南宁530021
出 处:《生理学报》2024年第1期77-88,共12页Acta Physiologica Sinica
摘 要:脊髓小脑共济失调(spinocerebellar ataxias,SCAs)是一组常染色体显性遗传性神经退行性疾病。目前已知的SCAs亚型众多,具有明显的遗传异质性和临床变异性。浦肯野神经元变性和小脑萎缩是大部分SCAs亚型共同的病理特征。浦肯野神经元的生理功能受到多重因素的调节,其信号转导功能障碍会导致小脑运动控制能力失常。本文主要综述了SCAs中浦肯野神经元电压门控离子通道、细胞内钙信号及谷氨酸信号转导异常,旨在为深入理解SCAs的共同发病机制、寻找并开发特异性治疗方法提供理论依据。Spinocerebellar ataxias(SCAs)are a group of autosomal dominant neurodegenerative diseases that have been currently identified with numerous subtypes exhibiting genetic heterogeneity and clinical variability.Purkinje neuronal degeneration and cerebellar atrophy are common pathological features among most SCA subtypes.The physiological functions of Purkinje cells are regulated by multiple factors,and their dysfunction in signal transduction may lead to abnormal cerebellar motor control.This review summarizes the abnormalities in voltage-gated ionic channels,intracellular calcium signaling,and glutamate signaling transduction of Purkinje cells in SCAs,aiming to provide a theoretical basis for further understanding the common pathogenesis of SCAs and devel-oping specific treatments.
关 键 词:脊髓小脑共济失调 浦肯野神经元 信号转导 离子通道
分 类 号:R744.7[医药卫生—神经病学与精神病学]
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