查看亨廷顿病的来源

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您请求的操作仅限于组中的用户:==损伤机制/病理过程== HD最明显的神经病理发生在新纹状体([[基底神经节]]的一部分)，包括尾状核和壳核的大面积萎缩，伴有选择性神经元丢失和星形胶质细胞增生(星形胶质细胞数量异常增加)。大脑皮层深层也可见明显的神经元丧失。其他区域，包括苍白球、丘脑、丘脑下核、黑质和小脑，根据疾病的分期表现出不同程度的萎缩。基底神经节和大脑皮层发生变性和萎缩。神经递质不足，无法调节运动。
===病理生理学===在HD中，位于4号染色体短臂的HTT ("Huntingtin")基因部分存在CAG重复序列过多Quintanilla RA, Johnson GV。[https://www.sciencedirect.com/science/article/pii/S0361923009002184线粒体功能障碍在亨廷顿舞蹈病发病机制中的作用]。大脑研究公报。2009 Oct 28;80(4-5):242-7.. 健康人有9 - 35个CAG重复序列，而诊断为HD的患者和携带者有36个或更多CAG重复序列的异常扩增。HTT基因，或HD基因，编码一种叫做亨廷顿蛋白的蛋白质。 This protein is found in neurons throughout the brain; its normal function is unknown. In affected patients, neuronal degeneration initiates in the striatum and progresses to the cerebral cortex, following a pattern that correlates to the clinical progression of HD. The Human Genome Project first identified the mutation in the HTT gene as the cause of HD in 1993. === Inheritance of HD === The mutation is a dominant gene, so if a parent has HD then the children have a 50-50 risk of inheriting it. There is a genetic test to make or confirm the diagnosis of Huntington's disease. Using a blood sample, the genetic test analyses DNA for the HD mutation by counting the number of CAG repeats in the huntingtin gene. Individuals who do not have HD usually have 28 or fewer repeats. Individuals with HD usually have 40 or more repeats, sometimes more than 100.

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