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。我们继续对僵人（僵硬人）综合征患者的抑制性脊髓反射回路进行表征，重点关注在治疗试验的三个点上选定的一系列反射研究的连续表现。我们继续研究III型戈谢病（GD3）儿童和年龄匹配的健康对照者肌肉拉伸反射引发的体感诱发电位（sep）。我们的研究结果表明，即使没有进展性肌阵发性癫痫的证据，GD3儿童的SEP也是异常的，并且SEP可能是这种疾病中皮质功能障碍的敏感指标。我们正在进行生理性震颤分析，包括肌电图的频谱分析，加速度测量和脑电图-肌电图的相干性，在8-12赫兹的生理性震颤，特发性震颤和帕金森震颤的组成部分的人。这些调查应有助于诊断震颤以及阐明病理生理学。我们也在尝试发展评估心因性震颤的生理方法。一项看起来很有希望的测试是测量一侧肢体震颤的频谱，同时要求患者在另一侧肢体以特定频率运动。在心因性震颤中，震颤可能遵循自主运动频率。在正常志愿者中进行屈肌反射研究，与不宁腿综合征（RLS）和周期性肢体运动障碍（PLMD）患者进行比较，验证不宁腿综合征的PLMD是由脊髓兴奋性增强引起的假设。正常受试者表现出与睡眠相关的屈肌反射反应的显著抑制。相比之下，在RLS/PLMD患者中，睡眠期间屈肌反射反应明显去抑制。患者睡眠相关的单突触H反射抑制得以保留。plm的肌电图与屈肌反射反应非常相似。我们的研究表明，与RLS/PLMD患者屈肌反射反应相关的脊髓异常兴奋性机制，表明RLS患者的PLMs起源于脊髓，并因椎上抑制的丧失而促进。-震颤，肌阵挛，舞蹈病，睡眠中的周期性运动，抽搐-人类受试者

The goal of this project is to understand the underlying physiological mechanisms of different involuntary movement disorders. We have continued characterization of inhibitory spinal reflex circuits in patients with stiffman (stiffperson) syndrome), with a focus on serial performance of a selected battery of reflex studies at three points in a treatment trial. We continue to study the somatosensory evoked potentials (SEPs) elicited by muscle stretch reflexes in children with type III Gaucher disease (GD3) and healthy age-matched controls. Our results suggest that the SEP in GD3 children are abnormal even when they have no evidence of progressive myoclonus epilepsy, and that the SEP might be a sensitive measure of cortical dysfunction in this disorder. We are doing physiological tremor analysis, including spectral analysis of EMG, accelerometry and EEG-EMG coherence, in persons with the 8-12 Hz component of physiological tremor, essential tremor and parkinsonian tremor. These investigations should help with diagnosis of tremor as well as elucidate the pathophysiology. We are also trying to develop physiological methods for assessment 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 with the another extremity. In psychogenic tremor, the tremor may follow the voluntary movement frequency. Flexor reflex studies were done in normal volunteers to compare with patients with Restless legs syndrome (RLS) and Periodic limb movement disorder (PLMD), to test the hypothesis that PLMD of RLS results from enhanced excitability of the spinal cord. Normal subjects showed a dramatic sleep-related inhibition of the flexor reflex response. In contrast, in patients with RLS/PLMD there was significant desinhibition of the flexor reflex response during sleep. Sleep-related inhibition of the monosynaptic H reflex in patients was preserved. The EMG pattern of PLMs closely resembled that of the flexor reflex response. Our study shows abnormal excitability of the spinal cord mechanisms involved in the flexor reflex response in patients with RLS/PLMD and suggests that PLMs in RLS originate in the spinal cord and are facilitated by the loss of supraspinal inhibition. - tremor, myoclonus, chorea, periodic movements in sleep, tic - Human Subjects