Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Service de neurologie, CHU de Purpan, place du Dr Baylac, 31059 Toulouse cedex, France.
Neurophysiol Clin. 2006 Sep-Dec;36(5-6):345-9. doi: 10.1016/j.neucli.2006.12.005. Epub 2007 Jan 19.
For 15 years, 50 Japanese and European families with cortical myoclonic tremor and epilepsy were reported in the literature under various names. More recently, the acronym familial cortical myoclonic tremor with epilepsy (FCMTE) has been proposed for this new clinical entity based on both clinical and electrophysiological criteria: irregular postural myoclonic tremor of the distal limbs, familial history of epilepsy, autosomal dominant inheritance, and a rather benign outcome. The diagnosis is confirmed by electrophysiological features favoring cortical reflex myoclonus (enhanced C reflex at rest, giant somatosensory evoked potentials (SEPs), premyoclonus cortical spikes detected by the jerk-locked back-averaging method), and a good response to antiepileptic drugs. The genetic analysis of these families shows heterogeneity with a linkage to chromosome 8q24 for Japanese families, a linkage to chromosome 2p for Italian families, the exclusion of 8q24 locus for a Spanish family, and the exclusion of both loci for a Dutch family. The similarities of this syndrome with the group of myoclonic epilepsy suggest an abnormality of a gene encoding ion channels.
15年来，文献中报道了50个患有皮质性肌阵挛震颤伴癫痫的日本和欧洲家庭，这些报道使用了各种不同的名称。最近，基于临床和电生理标准，针对这一新的临床实体提出了家族性皮质性肌阵挛震颤伴癫痫（FCMTE）这一缩略词：远端肢体不规则姿势性肌阵挛震颤、癫痫家族史、常染色体显性遗传以及相对良性的预后。通过有利于皮质反射性肌阵挛的电生理特征（静息时C反射增强、巨大体感诱发电位（SEP）、通过抽动锁定反向平均法检测到的肌阵挛前皮质棘波）以及对抗癫痫药物的良好反应来确诊。对这些家庭的基因分析显示存在异质性，日本家庭与8号染色体q24区域连锁，意大利家庭与2号染色体p区域连锁，一个西班牙家庭排除了8号染色体q24位点，一个荷兰家庭排除了这两个位点。该综合征与肌阵挛性癫痫组的相似性提示存在一个编码离子通道的基因异常。
