Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli F M
Molecular Medicine & Neurology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Neuropediatrics. 2007 Feb;38(1):46-9. doi: 10.1055/s-2007-981449.
Neuronal ceroid lipofuscinoses (NCLs) are relatively common storage diseases of childhood and early adolescence. Ultrastructural shape of storage cytosomes, type of disease gene, and age of onset serve to classify the different NCLs, some of which appear to cluster in Scandinavian countries. The CLN5 form usually presents as a classical epileptiform encephalopathy of late infancy but a more aggressive cognitive impairment has been described in a single family. We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset.
神经元蜡样脂褐质沉积症（NCLs）是儿童期和青春期早期相对常见的贮积病。贮积性胞质小体的超微结构形态、疾病基因类型和发病年龄有助于对不同的NCLs进行分类，其中一些似乎在斯堪的纳维亚国家较为集中。CLN5型通常表现为晚发性婴儿期典型的癫痫样脑病，但在一个家族中曾描述过一种更具侵袭性的认知障碍。我们报告了两个携带CLN5基因新突变（p.Tyr258Asp）的同胞，其发病时主要疾病表现为行为障碍和智力衰退，而非癫痫。
