Familial cortical tremor with epilepsy.
Familial cortical tremor with epilepsy.
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家族性皮质震颤伴癫痫。
DOI：
10.1016/s1353-8020(97)00001-1
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发表时间：
1997
影响因子：
4.1
通讯作者：
Y. Mizuno
中科院分区：
文献类型：
--
作者：
Y. Okuma;Y. Shimo;K. Hatori;T. Hattori;S. Tanaka;Y. Mizuno
我们在这里报告一个日本家庭，其中五名成员在三代人中发展为非进行性成人起病的皮质震颤和癫痫。除了类似于特发性震颤的颤动外，神经系统的发现并不引人注目。电生理学检查显示巨大的体感诱发电位(SEP)、增强的长潜伏期反射(C-Relex)和运动前皮质电位呈阳性，由抽动锁定平均法记录，提示皮质反射性肌阵挛。癫痫发作本质上是零星的，很容易被抗惊厥药物控制。震颤对氯硝西潘或丙戊酸钠等抗惊厥药物也有很好的反应，但对β阻滞剂则不起作用。在特发性震颤的鉴别诊断中，应考虑这种以遗传性为主的疾病。
We report here on a Japanese family in which five members in three generations developed non-progressive adult onset cortical tremor and epilepsy. Other than tremulous movements resembling essential tremor, the neurologic findings were unremarkable. Electrophysiologic studies revealed giant somatosensory evoked potentials (SEPs), enhanced long latency reflexes (C-reflex), and positive premovement cortical potentials, recorded by jerk-locked averaging, indicating cortical reflex myoclonus. The seizures were sporadic in nature and easily controlled by the anticonvulsants. The tremor also responded well to anticonvulsants such as clonazepam or sodium valproate, but not to β-blockers. This dominantly inherited disorder should be considered in the differential diagnosis of essential tremor.