Dietrichs Espen, Kvikstad Vebjørn
Nevrologisk avdeling, Nevroklinikken, Rikshospitalet, 0027 Oslo.
Tidsskr Nor Laegeforen. 2008 Oct 9;128(19):2210-3.
Essential tremor is probably the most common movement disorder. Still, the mechanisms underlying this condition are largely unknown. We have reason to believe that essential tremor is under-diagnosed, and that many patients because of this do not receive adequate treatment.
This review is based on own clinical experience, non-systematic search in the PubMed database, and on the available international consensus documents.
Essential tremor usually presents as action tremor with postural tremor as the most prominent feature. It typically starts in the arms, but may spread and include head tremor in one third of the patients. Tremor in other parts of the body is seen less frequently. Ethanol may relieve the tremor. Essential tremor usually starts in adults and progresses with age. The prevalence is unknown, but is probably in the range 0.4-3.9%. The cause is unknown, but many families seem to have an autosomal dominant inheritance. Three associated loci have been found, but genes have not been identified. Essential tremor is often considered a neurodegenerative disorder, but receptor mechanisms may also be important. Some patients also show other neurological signs like cerebellar ataxia. New findings indicate that there are two neuropathological types of essential tremor, one is associated with cerebellar Purkinje cell pathology and one with brain stem Lewy bodies. Treatment is only symptomatic. Propranolol and primidone are the first choice drugs, but at least 30% of the patients have insufficient symptomatic relief from drug therapy. Neurosurgical treatment with thalamic deep brain stimulation is an effective alternative for the most severely disabled patients.
特发性震颤可能是最常见的运动障碍。然而,这种疾病的潜在机制在很大程度上仍不为人知。我们有理由相信特发性震颤存在诊断不足的情况,因此许多患者未得到充分治疗。
本综述基于作者自身的临床经验、在PubMed数据库中的非系统检索以及现有的国际共识文件。
特发性震颤通常表现为动作性震颤,姿势性震颤最为突出。它通常始于上肢,但可能会扩散,三分之一的患者会出现头部震颤。身体其他部位的震颤较少见。乙醇可减轻震颤。特发性震颤通常始于成年人,并随年龄增长而进展。其患病率未知,但可能在0.4%至3.9%之间。病因不明,但许多家族似乎具有常染色体显性遗传。已发现三个相关基因座,但尚未确定具体基因。特发性震颤常被认为是一种神经退行性疾病,但受体机制可能也很重要。一些患者还表现出其他神经体征,如小脑共济失调。新的研究结果表明,特发性震颤有两种神经病理学类型,一种与小脑浦肯野细胞病变有关,另一种与脑干路易小体有关。治疗仅为对症治疗。普萘洛尔和扑米酮是首选药物,但至少30%的患者药物治疗的症状缓解不足。对于最严重残疾的患者,丘脑深部脑刺激的神经外科治疗是一种有效的替代方法。