特发性震颤的研究进展

特发性震颤（ET）的病因可能包括环境和遗传因素。血中哈尔碱和铅浓度的增高可能和ET发病有关。遗传具有异质性,目前已经发现有3个基因位点可能与其发病有关,GABA转运体1型（GABA transporter subtype1,GAT1）可能为另一个候选基因。除震颤外,ET患者还可有小脑体征、执行功能受损和痴呆等表现。目前有一些新的辅助检查手段帮助鉴别ET,尤其是与早期帕金森病震颤相鉴别。一些新的药物也被证实有效。

Recent Progress on Diagnosis and Therapy of Essential Tremor

The etiologies of essential tremor （ET） may include environmental and genetic factor. The elevated blood harmane and lead concentration may be associated with the essential tremor. Genetic heterogeneity of ET has been demonstrated by linkage to three different chromosomal loci so far, and GABA transporter subtype 1（GAT1） may be another candidate gene. The manifestations of ET include cerebellar sign, executive function neuropsychological characteristic and dementia besides the tremor. There are some new assistant methods to help diagnose ET out of other tremor including early onset parkinsonian tremor. New therapeutic agents for ET have been tested and demonstrated to be partly effective.