神经元蜡样脂褐质沉积症。最新进展。
The neuronal ceroid-lipofuscinoses. Recent advances.
作者信息
Goebel H H, Sharp J D
机构信息
Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany.
出版信息
Brain Pathol. 1998 Jan;8(1):151-62. doi: 10.1111/j.1750-3639.1998.tb00142.x.
Abstract
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile NCL (JNCL;CLN3), distinguished on the basis of age of onset, clinical course and ultrastructural morphology, and recently genetic analysis. In addition several variant forms of the disease complex have been described as well as a rare adult onset form. Advances in both genetics and biochemistry have led to the identification of the genes for the three main subtypes of childhood NCL and their corresponding protein products and to mapping of two additional genes for two variant forms. The disease causing genes in both INCL and classical LINCL have been shown to encode lysosomal enzymes whilst the JNCL gene codes for a protein whose function is as yet unknown.
摘要
神经元蜡样脂褐质沉积症（NCLs）是一组神经退行性疾病，其特征为进行性视力减退、神经退行性变、癫痫以及神经元和其他细胞中自荧光脂色素的积累。儿童期的主要亚型为婴儿型（INCL；CLN1）、经典晚婴儿型（LINCL；CLN2）和青少年型NCL（JNCL；CLN3），它们根据发病年龄、临床病程、超微结构形态以及最近的基因分析来区分。此外，还描述了该疾病复合体的几种变异形式以及一种罕见的成人发病形式。遗传学和生物化学方面的进展已导致确定了儿童NCL三种主要亚型的基因及其相应的蛋白质产物，并确定了另外两种变异形式的两个基因的定位。已证明INCL和经典LINCL中的致病基因编码溶酶体酶，而JNCL基因编码一种功能尚不清楚的蛋白质。
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