Mole Sara E
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College, London, United Kingdom.
Brain Pathol. 2004 Jan;14(1):70-6. doi: 10.1111/j.1750-3639.2004.tb00500.x.
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative disorders primarily affecting children. They are characterised by the accumulation of autofluorescent storage material in many cells. Children suffer from visual failure, seizures, progressive physical and mental decline and premature death, associated with the loss of cortical neurones. Six genes have been identified that cause human NCL (CLN1, CLN2, CLN3, CLN5, CLN6, CLN8), and approximately 150 mutations have been described. The majority of mutations result in a characteristic disease course for each gene. However, mutations associated with later disease onset or a more protracted disease course have also been described. At least seven common mutations exist, either with a world-wide distribution or associated with families from specific countries. All mutations are described in the NCL Mutation Database (http://www.uc.ac.uk/ncl).
神经元蜡样脂褐质沉积症（NCL），也称为巴顿病，是一组主要影响儿童的遗传性严重神经退行性疾病。其特征是在许多细胞中积累自发荧光储存物质。儿童会出现视力衰退、癫痫发作、身体和智力逐渐衰退以及过早死亡，这些都与皮质神经元的丧失有关。已确定导致人类NCL的六个基因（CLN1、CLN2、CLN3、CLN5、CLN6、CLN8），并且已经描述了大约150种突变。大多数突变会导致每个基因呈现出特征性的病程。然而，也已描述了与疾病较晚发作或病程较长相关的突变。至少存在七种常见突变，它们要么在全球范围内分布，要么与特定国家的家族相关。所有突变都在NCL突变数据库（http://www.uc.ac.uk/ncl）中有所描述。
