PHYSIOLOGICAL ANALYSIS OF INVOLUNTARY MOVEMENTS

这个项目的目标是了解不同的不自主运动障碍的潜在生理机制。 我们使用的工具包括临床神经生理学方法，如脑电图，肌电图，经颅磁刺激和神经成像与正电子发射断层扫描和功能磁共振成像。目前活跃的项目包括震颤，抽搐和睡眠中的周期性运动的研究。 我们正在使用生理学的方法来确定心因性震颤的诊断标准。 一个看起来很有希望的测试是测量一个肢体震颤的频谱，同时要求患者在另一个肢体以指定的频率进行运动。 我们也在收集与心因性运动相关的肌肉募集、感觉调节和皮质活动（使用EEG）模式的信息。 分析表明，准备皮层活动（运动前电位测量）是类似于之前的自愿运动。刺激反应的模式被发现是高度可变的和不一致的患者有刺激敏感性肌阵挛。 我们已经表明，体感诱发电位是一个敏感的措施，在所有的3型神经病戈谢病（GD 3）患者的疾病负担。 患者的平均电位振幅与对照组和1型戈谢病患者有显著差异。 波幅与患者的智商也有显著相关性。 还对不宁腿综合征患者的体感诱发电位进行了评估。 这项研究是为了验证这一假设，即在这些患者中感觉系统的兴奋性增加。 与对照组相比，患者胫后神经体感诱发电位的幅度显著增加。 对帕金森震颤的初步分析表明，在震颤频率下，运动皮层和肌肉之间存在一致性。 相反，在正常（生理性震颤）和特发性震颤患者的震颤频率下，未观察到震颤频率下的皮质-肌肉相干性。 这些发现表明运动皮层在帕金森病震颤中的重要作用。 在未来，这种方法可能是一个有用的工具，早期帕金森？的疾病从其他疾病。 我们用生酮饮食治疗了一名Lafora体病患者，试图控制他的癫痫。此外，他的肌阵挛和精神状态也有所改善。同时，尽管出现酮症，但仍观察到显著的胰岛素抵抗和显著的高胰岛素血症，这是Lafora病的一项新发现，表明Laforin（一种新型酪氨酸磷酸酶）在胰岛素信号传导中可能发挥作用。

The goal of this project is to understand the underlying physiological mechanisms of different involuntary movement disorders. The tools we use include clinical neurophysiological methods such as electroencephalography, electromyography, and transcranial magnetic stimulation and neuroimaging with positron emission tomography and functional magnetic resonance imaging. Currently active projects in the Section include studies of tremor, tic, and periodic movements in sleep. We are using physiological methods to see if criteria can be defined to make the diagnosis of psychogenic tremor. One test that looks promising is measuring the frequency spectrum of the tremor in one extremity while asking the patient to make movements with specified frequencies in the opposite extremity. We are also collecting information regarding patterns of muscle recruitment, sensory modulation and cortical activity (using EEG) associated with psychogenic movements. Analysis reveals that the preparatory cortical activity (measured by pre-movement potentials) is similar to that preceding voluntary movements. The pattern of stimulus-response was found to be highly variable and inconsistent in patients who had stimulus sensitive myoclonus. We have shown that somatosensory evoked potentials are a sensitive measure of disease burden in all type 3 neuronopathic Gaucher disease (GD3) patients. The mean potential amplitude in patients differed significantly from controls and from type 1 Gaucher patients. Amplitude and the IQ of patients also was significantly correlated. Somatosensory evoked potentials were also evaluated in patients with restless legs syndrome. The study was done to test the hypothesis that excitability of the sensory system is increased in these patients. Compared to controls, a significant increase in the amplitude of the posterior tibial nerve somatosensory evoked potential was seen in patients. Preliminary analysis of parkinsonian tremor showed coherence between the motor cortex and muscle at the tremor frequency. In contrast, cortico-muscular coherence at the tremor frequency was not observed at the tremor frequency in normal (physiologic tremor) and essential tremor patients. These findings suggest an important role of the motor cortex in parkinsonian tremor. In the future, this method might be a useful tool to the early stage of Parkinson?s disease from other disorders. We treated a patient with Lafora Body Disease with a ketogenic diet attempting to control his epilepsy. Additionally his myoclonus and mental state have improved. Concomitantly, significant insulin resistance and marked hyperinsulinemia despite ketosis was noticed, a new finding in Lafora disease which suggests a possible role of Laforin (a novel tyrosine phosphatase) in insulin signaling.