Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D
Department of Paediatrics, University College of London Medical School, England.
Am J Hum Genet. 1993 Oct;53(4):931-5.
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. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjögren-Vogt, or Batten, disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci.
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。遗传方式为常染色体隐性遗传。公认的儿童期主要三种亚型为：婴儿型（哈尔蒂亚 - 桑塔沃里病；MIM 256743）、晚婴儿型（扬斯基 - 比尔绍夫斯基病；MIM 204500）和青少年型（施皮尔曼 - 舍格伦 - 沃格特病，或巴顿病；MIM 204200）。通过连锁分析，青少年型（CLN3）和婴儿型（CLN1）的基因位点已分别定位于人类染色体16p和1p。对25个分离晚婴儿型NCL的家系进行连锁分析，已排除这些区域作为该疾病位点（CLN2）所在位置。因此，NCL的三种儿童期亚型是由不同位点的突变引起的。
