Neuropathological analysis on epileptogenesis of progressive myoclonic epilepsy

首先，我们用免疫组织化学方法检测了日本尸体解剖的遗传性齿状管-白斑萎缩（DRPLA）患者脑干和大脑皮层中神经递质、神经肽、钙结合蛋白和/或谷氨酸转运蛋白的表达。DRPLA是进行性肌萎缩性癫痫（PME）的重要病因之一。研究对象为14例经临床病理证实的DRPLA，其中伴PME的青少年型和成人期早期型7例和2例，伴PME的成人期晚期型5例，对照组10例。用神经递质、神经肽、钙结合蛋白和兴奋性氨基酸转运蛋白的抗体处理脑干和大脑皮层的一系列切片。虽然被盖的大小很小，但我们没有发现脑干中神经递质、神经肽和钙结合蛋白的表达有任何pme特异性的变化。calbinin - d28k和parv . More白蛋白（推测是gaba能抑制性中间神经元的标志物）的免疫反应性中间神经元的数量在PME病例中主要减少。谷氨酸转运蛋白修饰谷氨酸兴奋毒性的表达相对较少。同样，4例神经元样脂褐质病（NCL）尸检显示大脑皮层钙结合蛋白表达减少，谷氨酸转运蛋白保留。关于拉福拉病，我们用免疫组织化学方法检查了三例尸检病例的神经变性，并用ELISA法评估了两例患者尿液和血清中的氧化产物。脱氧核糖核酸和脂质中氧化产物的增加沉积在尸检的大脑和尿液样本中都被识别出来。尽管胶质谷氨酸转运蛋白EAAT1的表达相对保留，但在3例尸检病例中，另一种胶质谷氨酸转运蛋白EAAT2的表达减少，与Lafora体的发生无关。这些发现表明，不同的病理机制似乎与导致PME的每种疾病的癫痫发生有关。少

First, we immunohistochemically examined the expressions of neurotransmitters, neuropeptides, calcium-binding proteins and/or glutamate transporters in the brainstem and cerebral cortex of autopsy cases of hereditary dentatorubral-pallidoluysian atrophy (DRPLA), which is one of the important causes of progressive myoclonus epilepsy (PME) in Japan. The subjects comprised 14 cases of clinicopathologically confirmed DRPLA, including 7 and 2 cases of juvenile and early adult types with PME, 5 cases of late adult type without PME, and 10 age-matched controls. Serial sections of the brainstem and cerebral cortex were treated with antibodies to neurotransmitters, neuropeptides, calcium-binding proteins, and excitatory amino acid transporters. Although the size of the tegmentum was small, we failed to find any PME-specific brainstem changes in the expressions of neurotransmitters, neuropeptides and calcium-binding proteins. The numbers of interneurons immunoreactive for calbindin-D28K and parv … More albumin, which are speculated to be markers of GABAergic inhibitory interneurons, were reduced throughout the cerebral cortex predominantly in cases with PME. The expressions of glutamate transporters modifying glutamate excitotoxicity were comparatively spared. Similarly, four autopsy cases of neuronal ceroid-lipofuscinosis (NCL) showed the reduced expressions of calcium-binding proteins with preserved ones of glutamate transporter in the cerebral cortex. Regarding Lafora disease, we immunohistochemically examined neurodegeneration in three autopsy cases and evaluated oxidative products in urine and serum isolated from two patients using ELISA. Increased deposition of oxidative products to DNA and lipids were recognized in both the autopsy brains and urine specimens. Although the expression of glial glutamate transporter EAAT1 was comparatively preserved, that of another glial glutamate transporter EAAT2 was reduced in three autopsy cases, irrespective of occurrence of Lafora body. These findings suggest that different pathomechanisms seem to be related to epileptogenesis in each disorder causing PME. Less