Goebel H H
Department of Neuropathology, Mainz University Medical Center, Germany.
Semin Pediatr Neurol. 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3.
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5. Within the clinical pentad are included seizures, motor disturbances, visual impairment, dementia, and familial occurrence in an autosomal-recessive fashion. The ultrastructure of accruing lipopigments is diagnostically required to recognize an individual patient's NCL by showing granular lipopigments in INCL, curvilinear profiles (with or without fingerprint profiles) in LINCL and fingerprint profiles (with or without curvilinear profiles) in JNCL. Identification of genes for INCL and JNCL, together with electron microscopy in LINCL, allows safe prenatal diagnosis which is still impossible by biochemical techniques, unlike other lysosomal disorders. However, both cause and pathogenesis of the individual forms of NCL are still unknown, and therapy is gravely insufficient.
神经元蜡样脂褐质沉积症（NCL）是一组相对常见的儿童进行性神经退行性疾病，具有相似但不完全相同的临床和形态学特征，包括不同的临床类型，其中一些已被发现代表不同的遗传实体，即婴儿型（INCL）或CLN1、晚婴儿型（LINCL）或CLN2、青少年型（JNCL）或CLN3，以及LINCL的芬兰变异型或CLN5。临床五联征包括癫痫发作、运动障碍、视力损害、痴呆以及常染色体隐性遗传方式的家族发病情况。累积的脂色素的超微结构在诊断上是必需的，通过显示INCL中的颗粒状脂色素、LINCL中的曲线状结构（有无指纹状结构）以及JNCL中的指纹状结构（有无曲线状结构）来识别个体患者的NCL。INCL和JNCL基因的鉴定，以及LINCL中的电子显微镜检查，使得安全的产前诊断成为可能，这与其他溶酶体疾病不同，生化技术目前仍无法做到这一点。然而，NCL各型的病因和发病机制仍然不明，治疗也严重不足。
