Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus
Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus
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DOI：
10.1002/mds.870120316
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发表时间：
1997-05-01
影响因子：
8.6
通讯作者：
Shibasaki, H
中科院分区：
文献类型：
--
作者：
Terada, K;Ikeda, A;Shibasaki, H
以前有报道称，有些震颤患者的电生理表现与皮层反射性肌阵挛患者相同，因此将震颤命名为“皮层震颤”。在本研究中，我们检查了来自三个家族的6名相对较晚发病的皮质震颤患者。皮质震颤的遗传方式符合常染色体显性遗传。这些患者在上肢和下肢远端有相对节律的不自主运动（震颤），特别是在姿势和/或精细运动期间。没有小脑性共济失调或痴呆，意识丧失的发作很少发生。在电生理学上，他们的脑电图（EEG），巨大的皮层成分的体感诱发电位，增强的长回路反射（C反射），和皮层尖峰之前的节奏性挺举可证明的急跳锁定回平均法，从而满足标准的皮层反射肌阵挛。此外，他们在自主运动前1-2秒开始出现正常的缓慢负向EEG偏移，这表明与传统形式的进行性肌阵挛癫痫（PME）相反，小脑向运动皮层的传出输入是正常的。这些临床和电生理图像与家族性特发性震颤、家族性特发性肌阵挛或传统形式的PME不同，术语“家族性皮质肌阵挛性震颤”将最恰当地代表这种独特实体的临床和电生理特征。
Previously it was reported that some patients with tremor had the same electrophysiological findings as those seen in patients with cortical reflex myoclonus, and consequently the tremor was named ''cortical tremor.'' In the present study, we examined six patients from three families with cortical tremor of relatively late onset. The inheritance pattern of cortical tremor was compatible with autosomal dominant trait. Those patients had relatively rhythmic involuntary movements (tremor) in the distal upper and lower limbs, especially during posture and/or fine movements. There: was no cerebellar ataxia or dementia, and fits of loss of consciousness occurred only infrequently. Electrophysiologically, they had generalized spikes on electroencephalogram (EEG), giant cortical components of somatosensory evoked potential, an enhanced long-loop reflex (C-reflex), and cortical spikes preceding the rhythmic jerk demonstrable by the jerk-locked back averaging method, thus fulfilling the criteria of cortical reflex myoclonus. Furthermore, they had normal slow negative EEG shift starting 1-2 s prior to voluntary movements, suggesting that, as opposed to the conventional form of progressive myoclonus epilepsy (PME), the cerebellar efferent input to the motor cortices was normal. These clinical and electrophysiological pictures are distinct from those of familial essential tremor, familial essential myoclonus, or the conventional form of PME, and the term ''familial cortical myoclonic tremor'' will represent the clinical and electrophysiological features of this unique entity most appropriately.