Myoclonus generators in sialidosis.
Myoclonus generators in sialidosis.
复制标题
DOI：
10.1016/j.cnp.2022.05.004
复制
发表时间：
2022
影响因子：
1.7
通讯作者：
中科院分区：
文献类型：
--
作者：
唾液酸沉积症肌阵挛的皮质起源不能完全解释这种现象。我们用电生理学来显示肌阵挛可能的皮层下来源。正确理解这种病理生理学可能有助于改善治疗。唾液酸沉积症是一种先天性代谢缺陷。有证据表明，在这种疾病中观察到的肌阵挛运动具有皮质起源，但这种机制并不能完全解释在许多患者中经常观察到的双侧同步肌阵挛活动。我们提出的证据皮层下的基础同步肌阵挛现象。肌电图调查进行了分子和生化证实的唾液酸中毒1型患者。肌电图记录显示，对侧同源肌肉的双侧同步肌阵挛活动的明确事件。我们还观察到这些肌肉之间具有接近零时滞的高肌肉-肌肉一致性。在同步事件中，左右同源肌肉之间没有相干相位滞后，这表明单侧皮质源不能完全解释肌阵挛活动。这一现象的发生，必然存在着一种皮层下的双侧同步机制。了解这一机制可能会阐明皮质下肌阵挛的关系。
The cortical origin of myoclonus in sialidosis does not fully explain the phenomena. We used electrophysiology to show a possible subcortical source for the myoclonus. Correct understanding of this physiopathology may help improve treatment. Sialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently observed in many patients. We present evidence of a subcortical basis for synchronous myoclonic phenomena. Electromyographic investigations were undertaken in two molecularly and biochemically confirmed patients with sialidosis type-1. The EMG recordings showed clear episodes of bilaterally synchronous myoclonic activity in contralateral homologous muscles. We also observed a high muscular-muscular coherence with near-zero time-lag between these muscles. The absence of coherence phase lag between the right-and-left homologous muscles during synchronous events indicates that a unilateral cortical source cannot fully explain the myoclonic activity. There must exist a subcortical mechanism for bilateral synchronization accounting for this phenomenon. Understanding this mechanism may illuminate cortical-subcortical relationships in myoclonus.