Goebel H H
Division of Neuropathology, University of Mainz, Germany.
Brain Dev. 1992 Jul;14(4):203-11. doi: 10.1016/s0387-7604(12)80231-2.
In view of the epidemiological connotation of childhood neuronal ceroid-lipofuscinosis (NCL) as one of the most frequent progressive lysosomal diseases and neurodegenerative disorders in children, the recognition of the individual clinical forms of childhood NCL is still based on invasive diagnostic electronmicroscopy which, currently, may be applied also for prenatal diagnosis. Like other inherited disorders, the NCL group has finally also benefited from the genetic breakthroughs of localization of the genes for infantile NCL and juvenile NCL on chromosomes 1 and 16, respectively. This review concerns recent advances in morphological studies, broadening of the clinical spectrum of childhood NCL, new biochemical findings, and preliminary therapeutic results. Hereditary animal models, largely for human juvenile NCL, have been successfully employed in elucidation of the nosology of NCL, but the basic defect in human, canine and ovine NCL remains unknown.
鉴于儿童神经元蜡样脂褐质沉积症（NCL）作为儿童中最常见的进行性溶酶体疾病和神经退行性疾病之一的流行病学内涵，对儿童NCL个体临床形式的认识仍基于侵入性诊断电子显微镜检查，目前该检查也可用于产前诊断。与其他遗传性疾病一样，NCL组最终也受益于基因突破，婴儿型NCL和青少年型NCL的基因分别定位于1号和16号染色体上。本综述涉及形态学研究的最新进展、儿童NCL临床谱的拓宽、新的生化发现以及初步治疗结果。遗传性动物模型主要用于人类青少年型NCL，已成功用于阐明NCL的疾病分类，但人类、犬类和绵羊NCL的基本缺陷仍然未知。
