Terada K, Ikeda A, Mima T, Kimura M, Nagahama Y, Kamioka Y, Murone I, Kimura J, Shibasaki H
Department of Brain Pathophysiology, Kyoto University School of Medicine, Japan.
Mov Disord. 1997 May;12(3):370-7. doi: 10.1002/mds.870120316.
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 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.
此前有报道称，一些震颤患者具有与皮质反射性肌阵挛患者相同的电生理表现，因此该震颤被命名为“皮质震颤”。在本研究中，我们检查了来自三个家族的6例起病相对较晚的皮质震颤患者。皮质震颤的遗传模式符合常染色体显性特征。这些患者在远端上肢和下肢有相对节律性的不自主运动（震颤），尤其是在姿势和/或精细运动时。没有小脑共济失调或痴呆，意识丧失发作也很少见。在电生理方面，他们脑电图（EEG）上有广泛性棘波，体感诱发电位有巨大皮质成分，长环反射（C反射）增强，通过抽动锁定反向平均法可证明节律性抽动之前有皮质棘波，因此符合皮质反射性肌阵挛标准。此外，他们在自主运动前1 - 2秒开始有缓慢的脑电图负向偏移，这表明与进行性肌阵挛癫痫（PME）的传统形式不同，小脑向运动皮质的传出输入是正常的。这些临床和电生理表现与家族性特发性震颤、家族性特发性肌阵挛或PME的传统形式不同，“家族性皮质肌阵挛性震颤”这一术语将最恰当地代表这一独特疾病的临床和电生理特征。
