Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler R B, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole S E, Ruíz-Linares A
Genetica Molecular, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.
Neurology. 2005 Feb 22;64(4):740-2. doi: 10.1212/01.WNL.0000151974.44980.F1.
Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.
来自哥伦比亚的三名相关患者患有青少年型神经元蜡样脂褐质沉积症。对其中一例进行电子显微镜检查显示有浓缩的指纹样结构，基因分析在CLN5基因中鉴定出一种新的错义突变。作者证明了在北欧以外地区存在致病性CLN5突变，并且该基因的突变除了导致首次在芬兰描述的晚期婴儿型外，还可导致非典型的晚发型神经元蜡样脂褐质沉积症。
