Ataxia
Ataxia
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DOI：
10.1016/j.ncl.2014.09.004
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发表时间：
2015-02-01
影响因子：
2.4
通讯作者：
Ashizawa, Tetsuo
中科院分区：
文献类型：
--
作者：
Akbar, Umar;Ashizawa, Tetsuo
共济失调是一种由小脑及其传入和传出神经联系功能障碍引起的平衡和协调障碍。虽然多种疾病可导致继发性共济失调，但共济失调的遗传原因越来越多。遗传异常可能涉及线粒体功能障碍、氧化应激、DNA修复机制异常、可能的蛋白质错误折叠和细胞骨架蛋白异常。很少有共济失调是完全可以治疗的，而有效的基因治疗和药物治疗的希望正在出现。在此对共济失调进行了讨论，并简要提及了获得性共济失调，更侧重于遗传性共济失调。
Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer. Genetic abnormalities may involve mitochondrial dysfunction, oxidative stress, abnormal mechanisms of DNA repair, possible protein misfolding, and abnormalities in cytoskeletal proteins. Few ataxias are fully treatable while hope for efficacious gene therapy and pharmacotherapy is emerging. A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias.