The neuronal ceroid lipofuscinoses: the same, but different?
The neuronal ceroid lipofuscinoses: the same, but different?
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DOI：
10.1042/bst0381448
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发表时间：
2010-12-01
影响因子：
3.9
通讯作者：
Cooper, Jonathan D.
中科院分区：
文献类型：
--
作者：
Cooper, Jonathan D.
神经性蜡样脂褐素病(又称巴顿病)是一组至少十种致命的遗传性储存疾病，尽管许多致病基因已被鉴定出来，但对潜在的致病机制知之甚少，然而，现在我们已经有了大多数形式的NCL的小鼠或大型动物模型，我们可以研究其发病机制，并比较不同类型疾病在大脑中发生的情况。广泛相似的神经病理主题已经出现，包括神经元丢失的高度选择性本质，突触前间隔的早期影响以及早期和局部的Ghat激活。这些事件在丘脑皮质系统中尤其明显，但很明显当它们在不同形式的NCL之间发生时，现在变得明显的是，尽管有彼此相似的病理终点，但这些终点是由每种NCL亚型特有的一系列事件所达到的
The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders Despite the identification of many of the disease causing genes very little is known about the underlying disease mechanisms However now that we have mouse or large animal models for most forms of NCL we can investigate pathogenesis and compare what happens in the brain in different types of the disease Broadly similar neuropathological themes have emerged including the highly selective nature of neuron loss early effects upon the presynaptic compartment together with an early and localized ghat activation These events are especially pronounced within the thalamocortical system but it is clear that where and when they occur vanes markedly between different forms of NCL Ills now becoming apparent that despite having pathological endpoints that resemble one another these are reached by a sequence of events that is specific to each subtype of NCL