特发性震颤与低铜蓝蛋白血症的相关性研究进展  

Advances study of the correlation between essential tremor and hypotroproteinemia

作　　者：舒意凯 贺娟[2] 包才华 刘桂英[2] SHU Yikai;HE Juan;BAO Caihua;LIU Guiying(Inner Mongolia Medical University,Hohhot 010110,China;The Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010000,China)

机构地区：[1]内蒙古医科大学,内蒙古呼和浩特010110 [2]内蒙古医科大学附属医院,内蒙古呼和浩特010000

出　　处：《中国实用神经疾病杂志》2021年第9期819-823,共5页Chinese Journal of Practical Nervous Diseases

基　　金：内蒙古自治区自然科学基金项目(编号:2018MS08104)。

摘　　要：特发性震颤(essential tremor,ET)是一种神经系统退行性疾病,与3q13等致病基因有关,多数理论认为是由于小脑-丘脑-皮质通路病变所致,临床表现以累及双上肢的不对称性运动震颤为主要特征。ET还被视为一类疾病家族,可出现其他伴随症状。铜蓝蛋白(ceruloplasmin,Cp)是一种血浆内的铜转运蛋白,调节机体的铜、铁离子的稳态。研究表明低铜蓝蛋白血症(hypoceruloplasminemia)与神经系统退行性疾病之间关系密切,可引起脑内铁代谢异常而产生铁沉积并发生震颤。既往对于低铜蓝蛋白血症与ET的研究较少且不全面,本研究总结了两者在发病机制、基因表型和慢性应激等方面的相关性。未来随着对ET研究的不断深入,其与低铜蓝蛋白血症之间的关系会更加明确。Essential tremor(ET)is a degenerative disease of the nervous system,which is associated with pathogenic genes such as 3q13.Most of the theories believe that it is caused by the pathological changes of cerebellum-thalamus-cortical pathway.Its clini⁃cal manifestation is characterized by asymmetrical motion tremors involving both upper limbs.ET is also regarded as a family of dis⁃eases with other concomitant symptoms.Ceruloplasmin(Cp)is a copper transporter in plasma that determines the homeostasis of cop⁃per and iron ions in the body.Studies have shown that there is a close relationship between hypoceruloplasminemia and neurodegener⁃ative diseases,which can cause abnormal iron metabolism in the brain and lead to iron deposition and tremor.Previous studies on hy⁃poceruloplasminemia and ET were few and insufficient.This study summarized the clear correlation between hypoceruloplasminemia and ET in terms of pathogenesis,gene phenotype and chronic stress.In the future,with the deepening of studies on ET,the relation⁃ship between ET and hypoceruloplasminemia will be clearer.

关 键 词：特发性震颤 低铜蓝蛋白血症 铜蓝蛋白 铁沉积 

分 类 号：R742[医药卫生—神经病学与精神病学]