Towards understanding the neuronal ceroid lipofuscinoses
Towards understanding the neuronal ceroid lipofuscinoses
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DOI：
10.1016/j.braindev.2008.12.008
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发表时间：
2009-08-01
影响因子：
1.7
通讯作者：
Schulz, Angela
中科院分区：
文献类型：
--
作者：
Kohlschuetter, Alfried;Schulz, Angela
神经元蜡样脂褐素沉积症 (NCL) 是一组儿童和年轻人的遗传性进行性脑部疾病，其特征是智力和其他能力下降、癫痫以及视网膜变性导致的视力丧失。 NCL 的常见病理是储存障碍，伴有自发荧光物质蜡样脂褐素的积累，并伴有神经元细胞的变性。目前已知至少有 10 种遗传上不同的 NCL，命名为 CLN1 至 CLN10。一些 NCL 表现出广泛不同的临床表现，具体取决于个体突变的严重程度。有些 NCL 并不特别罕见。随着人们对这些疾病的认识不断提高以及诊断技术的进步，被认可的患者数量正在不断增加。本概述简要总结了最近的发展（或引用了相应的文献），这些发展对于理解、诊断和管理患有这些不治之症之一的患者非常重要。 (C) 2008 Elsevier B.V. 保留所有权利。
The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and Young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degeneration of neuronal cells. At least 10 genetically distinct NCLs, designated CLN1 to CLN10, are presently known. Several NCLs exhibit a widely variable clinical picture, depending on the severity of the individual Mutation. Some NCLs are not particularly rare. With increasing awareness of these disorders and better diagnostic techniques available, the number of recognized patients is rising. This overview briefly summarizes recent developments (or quotes corresponding literature) that are important to understand, diagnose, and manage patients suffering from one of these incurable disorders. (C) 2008 Elsevier B.V. All rights reserved.