Huntington disease: genetics and epidemiology.
Huntington disease: genetics and epidemiology.
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DOI：
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发表时间：
1984-05
影响因子：
9.8
通讯作者：
Conneally Pm
中科院分区：
文献类型：
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作者：
Conneally Pm
亨廷顿病 (HD) 是一种常染色体显性遗传疾病，主要基因表达发生在中枢神经系统。其特征是通常在成年后出现进行性舞蹈病和痴呆。由于该疾病发病年龄较晚，而且直到最近还缺乏症状前标志物，该疾病的一个悲剧性的方面是，该疾病总是在父母出现症状之前传播给后代。尽管症状的出现和进展速度可能有所不同，但预后是持续恶化的。 HD 的主要病理特征是尾状核和壳核（纹状体）细胞的主要损失，但基底神经节、下丘脑和脑干的其他区域也受到影响。不仅存在神经元损失，而且许多神经递质和相关酶的水平也下降，以及一些受体位点的异常。马丁 [1] 将这种疾病描述为“人类中枢神经系统中的基因程序性细胞死亡”。
Huntington disease (HD) is an autosomal dominant disorder in which the major gene expression occurs in the central nervous system. It is characterized by the appearance of progressive chorea and dementia, usually in adult life. One tragic aspect of the disorder, due to its late age of onset and, until recently, lack of a presymptomatic marker, is that transmission of the disease to offspring invariably occurs before symptoms develop in the parent. Although the onset of symptoms and the rate of progression may vary, the prognosis is one of relentless deterioration. The major pathological features of HD are a primary loss of cells in the caudate nucleus and putamen (striatum) but other regions of the basal ganglia, hypothalamus, and brain stem are also involved. Not only is there neuronal loss but there is also a decrease in the level of a number of neurotransmitters and associated enzymes, together with abnormalities in some receptor sites. Martin [1] described the disease as "genetically programmed cell death in the human central nervous system."