Hofman I L, Taschner P E
Department of Human Genetics, Sylvius Laboratories, Leiden, The Netherlands.
Am J Med Genet. 1995 Jun 5;57(2):165-7. doi: 10.1002/ajmg.1320570211.
The juvenile-onset subtype of the neuronal ceroid lipofuscinoses (JNCL) is well known [Hofman, ISBN90-71534-19-7 1990] and ultrastructurally characterized by fingerprints and/or curvilinear bodies in many cell types. Linkage studies indicated a most likely location for CLN3, the gene involved in JNCL, in the interval between loci D16S297 and D16S57, within close proximity of the loci D16S298 and D16S299 [Mitchison et al., Genomics 22:465-468, 1993]. We present two sibs with a late onset progressive disease of mental deterioration, progressive macular degeneration, motor disturbances, and epilepsy. Histological symptoms of neuronal ceroid lipofuscinosis and ultrastructural granular osmiophilic deposits (GROD) in lymphocytes and neurons are found. Individual haplotypes at polymorphic marker loci on chromosome 16 were constructed to determine whether JNCL with GROD is linked to the CLN3 locus.
神经元蜡样脂褐质沉积症（JNCL）的青少年发病亚型广为人知[霍夫曼，ISBN90 - 71534 - 19 - 7，1990年]，在超微结构上，其特征是在许多细胞类型中出现指纹体和/或曲线体。连锁研究表明，与JNCL相关的基因CLN3最可能位于基因座D16S297和D16S57之间的区间内，紧邻基因座D16S298和D16S299[米奇森等人，《基因组学》22:465 - 468，1993年]。我们报告了两名同胞患者，他们患有迟发性进行性疾病，包括精神衰退、进行性黄斑变性、运动障碍和癫痫。发现了神经元蜡样脂褐质沉积症的组织学症状以及淋巴细胞和神经元中的超微结构颗粒嗜锇沉积物（GROD）。构建了16号染色体上多态性标记位点的个体单倍型，以确定伴有GROD的JNCL是否与CLN3基因座连锁。
