A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
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DOI：
10.1212/01.wnl.0000151974.44980.f1
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发表时间：
2005-02-22
期刊：
影响因子：
9.9
通讯作者：
Ruíz-Linares, A
中科院分区：
文献类型：
--
作者：
Pineda-Trujillo, N;Cornejo, W;Ruíz-Linares, A
来自哥伦比亚的三名相关患者表现为青少年发病的神经性神经样脂褐质病。其中一个病例的电子显微镜显示了浓缩的指纹图谱，遗传分析鉴定了CLN5的一个新的错义突变。作者证明了在北欧以外存在致病性CLN5突变，并且该基因突变可导致非典型迟发性神经性ceroid脂褐质病，除了芬兰首次描述的晚期婴儿形式。
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.