Mole S E, Gardiner M
University College and Middlesex, School of Medicine, University College London, Department of Paediatrics.
Int J Neurol. 1991;25-26:52-9.
The neuronal ceroid lipofuscinoses comprise a group of inherited neurodegenerative disorders characterized by the accumulation of autoflourescent lipopigment in neurones and other cell types. Three main childhood sub-types occur: infantile (Haltia-Santavouri disease, locus CLN1), late-infantile (Jansky-Bielschowsky disease, locus CLN2) and juvenile (Spielmeyer-Sjogren-Vogt, Batten disease, locus CLN3). Inheritance is autosomal recessive. The basic biochemical defect remains unknown. The infantile disease Iocus (CLN1) has been mapped to human chromosome 1p32 and the juvenile disease Iocus (CLN3) to human chromosome 16p12 by linkage analysis. Marker loci in strong allelic association with the disease loci have been identified in each case and haplotype analysis suggests a founder mutation for CLN1 and CLN3. Classical late-infantile disease (CLN2) has been shown not to be an allelic variant of either CLN1 or CLN3. Identification of linked markers has provided a new method for pre-natal diagnosis. Work is in progress to clone CLN1 and CLN3 and to map CLN2. This will allow elucidation of the molecular genetic basis of the neuronal ceroid lipofuscinoses.
神经元蜡样脂褐质沉积症是一组遗传性神经退行性疾病，其特征是在神经元和其他细胞类型中积聚自发荧光脂色素。主要有三种儿童亚型：婴儿型（哈尔蒂亚 - 桑塔沃里病，基因座CLN1）、晚婴儿型（扬斯基 - 比尔绍夫斯基病，基因座CLN2）和青少年型（施皮尔曼 - 舍格伦 - 沃格特病，巴顿病，基因座CLN3）。遗传方式为常染色体隐性遗传。基本的生化缺陷尚不清楚。通过连锁分析，已将婴儿型疾病基因座（CLN1）定位于人类染色体1p32，青少年型疾病基因座（CLN3）定位于人类染色体16p12。在每种情况下都已鉴定出与疾病基因座有强等位基因关联的标记基因座，单倍型分析表明CLN1和CLN3存在奠基者突变。经典的晚婴儿型疾病（CLN2）已被证明不是CLN1或CLN3的等位基因变体。连锁标记的鉴定为产前诊断提供了一种新方法。目前正在进行克隆CLN1和CLN3以及定位CLN2的工作。这将有助于阐明神经元蜡样脂褐质沉积症的分子遗传基础。
