Hosain S, Kaufmann W E, Negrin G, Watkins P A, Siakotos A N, Palmer D N, Naidu S
Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Am J Med Genet. 1995 Jun 5;57(2):239-45. doi: 10.1002/ajmg.1320570226.
The neuronal ceroid-lipofuscinoses (NCL), also known as Batten disease, are a not uncommon group of disorders affecting infants, children, and young adults. The abnormal ultrastructural profiles seen in NCL are used for standard diagnosis; however, they can be missed, and are also found in other neurodegenerative conditions. Furthermore, there is an overlap between the types of inclusion profiles among the different forms of NCL. Therefore, a more specific and biochemically-based marker is necessary to confirm the diagnosis of NCL. Antibodies raised against the storage material from the ovine form of NCL (mitochondrial ATP synthase subunit c) were utilized to determine whether NCL could be distinguished from other metabolic-neurodegenerative disorders. By immunoblotting and immunohistochemistry, several brain samples of well-evaluated NCL cases confirmed increased accumulations in all NCL cases except in the brain of an infantile-onset NCL patient. The immunoblot studies of skin fibroblasts and brain were sensitive but not highly specific to NCL, due to the recognition of this material in normal controls as well as in other neurogenetic diseases. Immunocytochemistry of skin fibroblasts clearly distinguished LINCL and JNCL cases from controls, and with further refinement has the potential for becoming a diagnostic tool.
神经元蜡样脂褐质沉积症（NCL），也称为巴顿病，是一组影响婴儿、儿童和年轻人的常见疾病。NCL中可见的异常超微结构特征用于标准诊断；然而，这些特征可能会被遗漏，并且在其他神经退行性疾病中也会出现。此外，不同形式的NCL之间包涵体特征类型存在重叠。因此，需要一种更特异的、基于生化的标志物来确诊NCL。利用针对绵羊形式的NCL（线粒体ATP合酶亚基c）储存物质产生的抗体来确定NCL是否可以与其他代谢性神经退行性疾病区分开来。通过免疫印迹和免疫组织化学，对几例评估良好的NCL病例的脑样本进行检测，结果证实除了一名婴儿型NCL患者的脑外，所有NCL病例中该物质的积累均增加。皮肤成纤维细胞和脑的免疫印迹研究对NCL敏感但特异性不高，因为在正常对照以及其他神经遗传性疾病中也能识别出这种物质。皮肤成纤维细胞的免疫细胞化学能够明确区分LINCL和JNCL病例与对照，进一步优化后有可能成为一种诊断工具。
