CLINICAL, VIRAL AND IMMUNOLOGICAL STUDIES OF PERIPHERAL AND CNS DISEASES

进行临床和实验室研究以确定 病因学（感染、免疫和/或遗传学） 周围和中枢神经系统疾病。 电流 研究包括肌萎缩侧索硬化症（ALS）， 多发性肌炎/皮肌炎，新发脊髓灰质炎后肌无力， 脱髓鞘性多发性神经病，神经肌肉并发症 艾滋病、某些代谢性肌肉疾病和杜兴氏病 肌肉萎缩症 结合临床数据和研究， 进行病毒血清学和病毒分离。 一 神经肌肉疾病，发生在患有 小儿麻痹症早期（小儿麻痹症后综合征）一直是 临床定义沿着进展率， 电生理学、病毒学和组织化学发现。 的 患者CSF中发现的寡克隆条带的性质 小儿麻痹症和其他慢性神经系统疾病后， 调查 研究了多发性肌炎患者， 随机双盲试验前后的肌肉变化 环磷酰胺对照研究， 研究了淋巴细胞分离术。 肌肉活检 研究了Duchenne肌营养不良症患者， 生物化学定义异常蛋白质（即星云蛋白）。 的 临床，电生理和免疫学的图片， 定义了慢性感觉性共济失调性神经病， 发现存在神经节病变。逆转录病毒的作用 在这种神经病正在研究中，鉴于这种发现， HIV和HTLV-I患者的神经病变。 代谢 使用PET研究ALS患者的皮质活动 扫描和18FDG;低代谢不仅表现在 运动，但整个皮层，这表明ALS是一个 影响许多皮层区域的全身性过程。 相关性 这些代谢异常与大脑皮层的病理 神经元现在正在尝试。 肌肉活检， 肾病性胱氨酸病和肾范可尼综合征进行了研究 形态学和生物化学上。 代谢脂质的迹象 发现了由于肉毒碱缺乏引起储存性肌病， 促使了一项肉毒碱替代治疗研究。

Clinical and laboratory studies are conducted to determine etiology (infection, immunity and/or genetics) of chronic diseases of the peripheral and central nervous system. Current studies include amyotrophic lateral sclerosis, (ALS), polymyositis/dermatomyositis, new post-polio muscle weakness, demyelinating polyneuropathies, neuromuscular complications of AIDS, certain metabolic muscle diseases and Duchenne's muscular dystrophies. Combined clinical data, and studies of virus serology and virus isolation are performed. A neuromuscular disease that occurs in patients who have had poliomyelitis at an early age (post-polio syndrome) has been clinically defined along with the rate of progression, the electrophysiological, virological and histochemical findings. The nature of oligoclonal bands found in the CSF of patients with post-polio and other chronic neurological diseases is under investigation. Patients with polymyositis are studied and the muscle changes before and after a randomized double-blind controlled study with cyclophosphamide, plasmapheresis of lymphocytopheresis are investigated. Muscle biopsies from patients with Duchenne's muscular dystrophy are studied biochemically to define abnormal proteins (i.e. nebulin). The clinical, electrophysiological and immunological picture of a chronic, sensory, "ataxic" neuropathy were defined and the presence of a ganglionopathy was found. The role of retroviruses in this neuropathy is under study in view of the finding of such neuropathy in patients with HIV and HTLV-I. The metabolic activity of the cortex in ALS patients was studied using the PET scan and 18FDG; hypometabolism was demonstrated not only in the motor but throughout the cortex, suggesting that ALS is a generalized process affecting many cortical regions. Correlation of these metabolic abnormalities with pathology of the cortical neurons is now attempted. Muscle biopsies from patients with nephropathic cystinosis and renal Fanconi syndrome were studied morphologically and biochemically. Signs of a metabolic lipid storage myopathy due to carnitine deficiency were found which prompted a therapeutic study with carnitine replacement.