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[特发性震颤:最新进展]

[Essential tremor: state of the art].

作者信息

Deuschl G, Berg D

机构信息

Klinik für Neurologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Universität Kiel, Rosalind-Franklin-Str. 10, 24105, Kiel, Deutschland.

出版信息

Nervenarzt. 2018 Apr;89(4):394-399. doi: 10.1007/s00115-017-0475-z.

Abstract

Essential tremor (ET) is currently classified as a syndrome rather than a unique disease, primarily involving monosymptomatic action tremor in both hands. Different etiologies are presumed to underlie this condition. Currently only a few monogenetic conditions are known to present with this syndrome. If accompanied by additional symptoms that do not in themselves constitute a new syndrome, such as abnormal tandem gait or postures, the syndrome should be diagnosed as "ET plus". ET is associated with abnormal rhythmic activation of the cerebello-thalamo-cortical tremor circuit. Despite its strong heritability, the genetics of ET have not been elucidated as yet. Age-correlated tremor is one of the presumed subgroups of ET. Late onset is associated with a shortened life expectancy. From a treatment perspective, propranolol and primidone represent the drugs of first choice, followed by topiramate. Deep brain stimulation of the Vim nucleus of the thalamus is a proven treatment option in severely affected patients.

摘要

特发性震颤(ET)目前被归类为一种综合征而非单一疾病,主要表现为双手单症状性动作性震颤。推测这种情况有不同的病因。目前已知只有少数单基因疾病会出现这种综合征。如果伴有本身不构成新综合征的其他症状,如异常串联步态或姿势,则该综合征应诊断为“特发性震颤叠加”。特发性震颤与小脑 - 丘脑 - 皮质震颤回路的异常节律性激活有关。尽管其遗传性很强,但特发性震颤的遗传学尚未阐明。年龄相关性震颤是特发性震颤的推测亚组之一。发病较晚与预期寿命缩短有关。从治疗角度来看,普萘洛尔和扑米酮是首选药物,其次是托吡酯。丘脑腹中间核的深部脑刺激是严重受累患者经证实的治疗选择。

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