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原发性震颤的发病机制与治疗进展

Update on pathogenesis and treatment of essential tremor.

作者信息

Lorenz Delia, Deuschl Günther

机构信息

Department of Neurology, Universitätsklinikum Schleswig-Holstein, Campus Kiel Christian-Albrechts-Universität, Kiel, Germany.

出版信息

Curr Opin Neurol. 2007 Aug;20(4):447-52. doi: 10.1097/WCO.0b013e3281e66942.

Abstract

PURPOSE OF REVIEW

This review focuses on recent findings on the aetiological, clinical, pathological and genetic heterogeneity of essential tremor and new therapeutic approaches.

RECENT FINDINGS

Although essential tremor is one of the most common movement disorders, understanding of the causes and mechanisms of the disease is still very limited. Studies on the clinical presentation of essential tremor have expanded the clinical dimension, now including nontremor manifestations such as cerebellar signs, neuropsychological characteristics, distinct personality traits and behavioural symptoms. Results of neuropathologic and imaging studies are conflicting, with hints of neurodegeneration or a nondegenerative disturbance of functional circuits or receptors. Genetic heterogeneity of essential tremor has been demonstrated by linkage to three different chromosomal loci so far, and several negative genetic studies. New animal models are reinforcing previous hypotheses about gamma-aminobutyrate (GABA)-ergic mechanisms in essential tremor. New therapeutic agents for essential tremor have been tested and demonstrated to be partly effective.

SUMMARY

The traditional view of essential tremor as a single disease entity has been replaced with the concept that this disorder is a complex and heterogeneous disease. Heterogeneity of the condition, and lack of diagnostic criteria and objective diagnostic tests add to this problem. Many conflicting results may be due to differences in patient selection.

摘要

综述目的

本综述聚焦于原发性震颤在病因、临床、病理及基因方面的异质性以及新的治疗方法的近期研究发现。

近期研究发现

尽管原发性震颤是最常见的运动障碍之一,但对该疾病病因及机制的了解仍非常有限。关于原发性震颤临床表现的研究拓展了临床范畴,如今已涵盖非震颤表现,如小脑体征、神经心理学特征、独特的人格特质及行为症状。神经病理学和影像学研究结果相互矛盾,有神经退行性变或功能性回路或受体的非退行性紊乱的迹象。原发性震颤的基因异质性已通过与三个不同染色体位点的连锁以及多项阴性基因研究得以证实。新的动物模型强化了先前关于原发性震颤中γ-氨基丁酸(GABA)能机制的假说。用于原发性震颤的新治疗药物已接受测试并证明部分有效。

总结

原发性震颤作为单一疾病实体的传统观点已被该疾病是一种复杂且异质性疾病的概念所取代。病情的异质性以及缺乏诊断标准和客观诊断测试加剧了这一问题。许多相互矛盾的结果可能归因于患者选择的差异。

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