van Rootselaar Anne-Fleur, van Schaik Ivo N, van den Maagdenberg Arn M J M, Koelman Johannes H T M, Callenbach Petra M C, Tijssen Marina A J
Departments of Neurology and Clinical Neurophysiology, Academic Medical Center, 1100 DD Amsterdam, The Netherlands.
Mov Disord. 2005 Jun;20(6):665-73. doi: 10.1002/mds.20413.
Fifty Japanese and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Unfamiliarity with the syndrome often leads to an initial misdiagnosis of essential tremor or progressive myoclonus epilepsy. A detailed overview of the literature is lacking and is the scope of this study. Disease characteristics are adult onset, distal action tremor and myoclonus, epileptic seizures, autosomal dominant inheritance, benign course, effectiveness of antiepileptic drugs, and possibly cognitive decline. A channelopathy is hypothesized to be the basis of the disease. Despite phenotypic and genetic differences between the Japanese and European pedigrees, the clinical and electrophysiological data point toward one syndrome. To avoid confusion in literature and possible misdiagnosis of patients, we propose to use one description and suggest "familial cortical myoclonic tremor with epilepsy" (FCMTE). In addition, we put forward diagnostic criteria to give a starting point from which to conduct genetic studies.
已有五十个日本和欧洲家庭被报道患有皮质性肌阵挛震颤伴癫痫，这些报道使用了各种不同的名称。对该综合征的不熟悉常常导致最初被误诊为特发性震颤或进行性肌阵挛癫痫。目前缺乏对相关文献的详细综述，而这正是本研究的范畴。疾病特征包括成人起病、远端动作性震颤和肌阵挛、癫痫发作、常染色体显性遗传、病程良性、抗癫痫药物有效，以及可能存在认知功能下降。推测一种离子通道病是该疾病的基础。尽管日本和欧洲家系在表型和遗传方面存在差异，但临床和电生理数据表明这是一种综合征。为避免文献中的混淆以及对患者可能的误诊，我们建议使用一种描述，并提出“家族性皮质性肌阵挛震颤伴癫痫”（FCMTE）。此外，我们还提出了诊断标准，为开展基因研究提供一个起点。
