摘要
脊髓小脑性共济失调是一类遗传性神经系统变性疾病,目前已发现脊髓小脑性共济失调亚型有30余种(DRPLA,SCA1-8,10-232,5-31)。该病大多是由于致病基因内存在CAG重复片段异常扩增,导致含有多聚谷氨酰胺链的突变蛋白在细胞核内沉积形成核内包涵体。基因表达异常,谷氨酸及钙离子依赖性细胞信号转导异常是引起小脑功能紊乱的重要原因。
Spinocerebellar ataxias is a group of hereditary neurodegenerative disorders.To date,more than 30 kinds of subtypes of genetic spinocerebellar have been identified(DRPLA,SCA1-8,10-23,25-31).The most is related to the abnormal amplication of CAG repeated fragment in the virulence gene,which will result in the mutant protein having poly-glutamine chain accumulating in nucleus to form intranuclear inclusion.Both gene expression and glutamate-dependent and calcium-dependent neuronal signaling as important pathways leading to cerebellar dysfunction.
出处
《医学综述》
2011年第19期2958-2960,共3页
Medical Recapitulate