Abstract:
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 developing specific treatments.
摘要:
脊髓小脑共济失调(SCA)是一组常染色体显性神经退行性疾病,目前已被鉴定为具有许多表现出遗传异质性和临床变异性的亚型。Purkinje神经元变性和小脑萎缩是大多数SCA亚型中的常见病理特征。浦肯野细胞的生理功能受多种因素的调控,它们的信号转导功能障碍可能导致小脑运动控制异常。这篇综述总结了电压门控离子通道的异常,细胞内钙信号,和SCAs中Purkinje细胞的谷氨酸信号转导,旨在为进一步了解SCAs的共同发病机制和制定具体的治疗方法提供理论依据。