Williams R, Santavuori P, Peltonen L, Gardiner R M, Järvelä I
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The biochemical basis of these diseases is unknown. Three main childhood forms are recognized: infantile (Santavuori-Haltia disease, CLN1), late infantile (Jansky-Bielschowsky disease, CLN2), and juvenile (Spielmeyer-Vogt-Sjögren, Batten disease, CLN3). The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis (1, 2). The gene locus causing the classical late infantile form (CLN2) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci (8). About 10% of NCL cases have atypical clinical features with most of these resembling the late infantile form.
神经元蜡样脂褐质沉积症（NCLs）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累自发荧光脂色素。这些疾病的生化基础尚不清楚。已确认三种主要的儿童期形式：婴儿型（桑塔武奥里 - 哈尔蒂亚病，CLN1）、晚婴儿型（扬斯基 - 比尔绍夫斯基病，CLN2）和青少年型（施皮尔曼 - 沃格特 - 舍格伦病、巴滕病，CLN3）。通过连锁分析，CLN1基因已定位到1号染色体短臂，CLN3基因已定位到16号染色体短臂（1, 2）。导致典型晚婴儿型（CLN2）的基因座尚未定位，但已排除在CLN1和CLN3基因座之外（8）。约10%的NCL病例具有非典型临床特征，其中大多数类似于晚婴儿型。
