The spinocerebellar ataxias.
The spinocerebellar ataxias.
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DOI：
10.1097/wno0b013e3181b416de
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发表时间：
2009-09
期刊：
影响因子：
--
通讯作者：
Paulson HL
中科院分区：
文献类型：
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作者：
Paulson HL
伴有小脑变性的缓慢进行性共济失调通常是遗传性的。过去十五年来，我们对显性遗传性共济失调（现在称为脊髓小脑性共济失调（SCA））病因的理解发生了革命。已知近 30 种不同的 SCA 遗传原因，按发现时间顺序编号。所有 SCA 都显示出典型的小脑体征，许多显示出致残的非小脑特征，最常见的是脑干功能障碍。眼球运动异常很常见，反映了小脑和脑干的退化。视网膜变性引起的视力丧失在 SCA 中很少见，在 SCA7 中最常见且最严重。尽管 SCA 不断进展且目前无法治疗，但最近的科学进展已开始揭示可能导致预防性治疗的各种疾病机制。
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past fifteen years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery. All SCAs display classic cerebellar signs and many display disabling noncerebellar features, most commonly brainstem dysfunction. Eye movement abnormalities are common, reflecting cerebellar and brainstem degeneration. Visual loss from retinal degeneration is rare in SCA, occurring most commonly and profoundly in SCA7. Although the SCAs are relentlessly progressive and currently untreatable, recent scientific advances have begun to shed light on various disease mechanisms that may lead to preventive therapies.