Goebel H H, Zeman W, Patel V K, Pullarkat R K, Lenard H G
Mech Ageing Dev. 1979 Apr;10(1-2):53-70. doi: 10.1016/0047-6374(79)90070-8.
In 4 patients with neuronal ceroid-lipofuscinoses (NCL) (3 patients with the junvenile type, 1 patient with the late infantile type), the ultrastructural spectrum of residual bodies in the central and peripheral nervous system presented curvilinear profiles in all cases and regions investigated and many more ultrastructural patterns within and beyond regions commonly accessible to biopsy, probably due to age dependence, local tissue and cellular biochemical factors. Sampling from basal ganglia especially yielded combined curvilinear-fingerpint bodies, from peripheral ganglia additional membranous bodies. Residual bodies in NCL were present in almost every cell type, similar to the distribution of regular lipofuscin. Although the classical subgroups of NCL contain electronmicroscopically well defined residual bodies, permitting distinction of the late infantile type from the juvenile type, the ultrastructural differences are more of a quantitative than of a qualitative nature. However, they are not pathognomonic. N.m.r. spectra of ceroid and lipofuscin support the concept of their biochemical similarity, and argue against the proposition that they contain a single major component.
在4例神经元蜡样脂褐质沉积症（NCL）患者中（3例青少年型，1例晚婴儿型），中枢和外周神经系统中残余小体的超微结构谱在所有研究的病例和区域均呈现曲线状轮廓，并且在活检通常可获取的区域内外还有更多超微结构模式，这可能归因于年龄依赖性、局部组织和细胞生化因素。特别是从基底神经节取样时发现了曲线状指纹体的组合，从外周神经节取样时还发现了额外的膜性小体。NCL中的残余小体几乎存在于每种细胞类型中，类似于正常脂褐素的分布。尽管NCL的经典亚组包含电子显微镜下定义明确的残余小体，可将晚婴儿型与青少年型区分开来，但超微结构差异更多是数量上的而非质量上的。然而，它们并非具有诊断特异性。类蜡样质和脂褐素的核磁共振谱支持它们在生化上相似的概念，并反对它们含有单一主要成分的观点。
