Protracted juvenile neuronal ceroid lipofuscinosis - An autopsy report and immunohistochemical analysis
Protracted juvenile neuronal ceroid lipofuscinosis - An autopsy report and immunohistochemical analysis
复制标题
DOI：
10.1016/j.braindev.2005.12.004
复制
发表时间：
2006-08-01
影响因子：
1.7
通讯作者：
Ohya, Tatsuo
中科院分区：
文献类型：
--
作者：
Anzai, Yuki;Hayashi, Masaharu;Ohya, Tatsuo
幼年型神经性蜡样脂褐素沉积症(JNCL)是由CLN3基因突变引起的，其特征是进行性视力丧失和发展成运动障碍。少数患者表现出较长的临床病程，并被诊断为延迟性JNCL(PJNCL)。在这里，我们报告了一例55岁男性PJNCL的尸检和免疫组织化学检查，表明氧化应激和谷氨酸兴奋毒性参与了神经退行性变。患者的父母是近亲(我认为这意味着父母是亲属)。如果不是，则需要再次更改句子。)并有几个患有类似神经系统疾病的兄弟。他在最初的十年中表现出智力低下和视力障碍，并在40多年的时间里随着运动功能障碍而逐渐发展。在尸检中，大脑锥体神经元显示脂质沉积，这在电子显微镜上显示出指纹和曲线轮廓。他还表现为小脑皮质萎缩、白质纤维状胶质增生和苍白球稀疏化。免疫组织化学显示，晚期糖基化终产物免疫反应阳性的神经元数量在小脑皮质和中脑增加。兴奋性氨基酸转运体I在小脑齿状核和下橄榄核的免疫反应性降低。这些发现表明，蛋白质的氧化损伤和谷氨酸转运障碍可能参与了PJNCL。(C)2006爱思唯尔B.V.保留所有权利。
The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy in a case of PJNCL in a 55-year-old male and immunohistochemical examination of the involvement of oxidative stress and glutamate excitotoxicity in neurodegeneration. The patient was born to consanguineous parents (I assume this means that the parents were related. If not, then the sentence will need to be changed again.) and had brothers with similar neurological disease. He showed mental retardation and visual impairment in the first decade which gradually developed along with motor dysfunction for over 40 years. At autopsy, the cerebral pyramidal neurons revealed deposition of lipopigments, which demonstrated 'finger print' and curvilinear profiles on electron microscopy. He also exhibited cerebellar cortical atrophy, fibrillary gliosis in the white matter, and rarefication in the globus pallidus. Immunohistochemically, the number of neurons immunoreactive for advanced glycation end product was elevated in the cerebellar cortex and midbrain. Immunoreactivity for excitatory amino acid transporter I was reduced in the cerebellar dentate and inferior olivary nuclei. These findings suggest that oxidative damage to proteins and disturbed glutamate transport can be involved in PJNCL. (c) 2006 Elsevier B.V. All rights reserved.