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。 (感染、免疫和/或遗传学) 外周和中枢神经系统)。目前的研究包括 肌萎缩侧索硬化症(ALS)、多发性肌炎/皮肌炎 脱髓鞘多发性神经病，进行性多灶性白质脑病， 和重症肌无力。结合临床数据、遗传信息、人类白细胞抗原 MLC分型以及病毒血清学和病毒分离的研究 已执行。脑脊液中发现的寡克隆条带的性质 患有慢性神经系统疾病的患者正在接受调查。一位神经肌肉医生 早年患过小儿麻痹症的病人所患的疾病 已经在临床上被定义；这可能是由于 晚期脊髓灰质炎病毒感染或免疫调节异常 对神经细胞的反应正在调查中。IgM单抗条带有 在副蛋白血症患者的脊髓液中发现 出现多发性神经病，血脑脊液异常。致病因素 慢性感觉性“共济失调”神经病的发病机制 检查和本体感受性传入输入对其姿势的作用 对维修进行了调查。肌萎缩侧索硬化症患者大脑皮层的代谢活动 患者正在接受PET扫描和18F2-脱氧-D-葡萄糖的研究； 低代谢不仅表现在马达上，也表现在 辅助运动和感觉皮质，这表明ALS是一个相当普遍的 影响许多皮质区域的过程。老龄化对老年人的影响 神经肌肉系统正在接受电生理学和 在形态上，在正常老年人的肌肉和神经活检中 患者和阿尔茨海默病患者。肌肉活组织检查来自 肾性胱氨酸病和肾性Fanconi综合征患者 从形态和生化方面进行了研究。新陈代谢脂质的迹象 由于肉碱缺乏引起的贮藏性肌病被发现；这促使我们 开始肉碱替代疗法的治疗研究。

Clinical and laboratory studies are conducted to determine etiology (infection, immunity and/or genetics) for chronic diseases of the peripheral and central nervous system). Current studies include amyotrophic lateral sclerosis, (ALS), polymyositis/dermatomyositis, demyelinating polyneuropathies, progressive multifocal leukoencephalopathy, and myasthenia gravis. Combined clinical data, genetic information, HLA and MLC typing and studies of virus serology and virus isolation are performed. The nature of oligoclonal bands found in the CSF of patients with chronic neurological diseases is under investigation. A neuromuscular disease that occurs in patients who have had poliomyelitis at an early age has been clinically defined; the possibility that this might be due to a late polio virus infection or an abnormal immunoregulation and an immune reaction to neuronal cells is under investigation. IgM monoclonal band has been identified in the spinal fluid of patients with paraproteinemic polyneuropathies and an abnormal blood-CSF was found. The pathogenetic mechanisms of patients with a chronic, sensory, "ataxic" neuropathy were examined and the role of proprioceptive afferent inputs for their postural maintenance was investigated. The metabolic activity of the cortex in ALS patients is being studied using the PET scan and 18F 2-deoxy-D-glucose; hypometabolism was demonstrated not only in the motor but also in the paramotor and sensory cortex, suggesting that ALS is a rather generalized process affecting many cortical regions. The effect of aging on the neuromuscular systems is being investigated electrophysiologically and morphologically, in the muscle and nerve biopsies of normal elderly patients and patients with Alzheimer's disease. 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; this prompted us to start a therapeutic study with carnitine replacement.