PDF(Pubmed)
Abstract：
Spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases that are characterized by cerebellar ataxia. The most common types of SCAs are caused by polyglutamine (polyQ)-encoding cytosine-adenine-guanine repeat expansions. Autosomal dominant SCAs share similar pathophysiological mechanisms. The cerebellum plays an important role in the generation and control of eye movement, and neuropathological findings indicate that cerebellar degeneration is commonly present in polyQ-SCAs. As a result, various patterns of oculomotor impairment are present in most SCA subtypes. The present review summarizes the visual oculomotor abnormalities and vestibulo-ocular reflex dynamics of the most common polyQ-SCAs, as well as their genetic, clinical and neuropathological features. In conclusion, the systemic evaluation of eye movement features is useful in the differential diagnosis of polyQ-SCAs.
摘要：
脊髓小脑共济失调（SCAs）是一组以小脑共济失调为特征的常染色体显性神经退行性疾病。最常见的SCA类型是由编码胞嘧啶-腺嘌呤-鸟嘌呤重复扩增的聚谷氨酰胺(polyQ)引起的。常染色体显性SCA具有相似的病理生理机制。小脑在眼球运动的产生和控制中起着重要作用，和神经病理学发现表明，小脑变性通常存在于polyQ-SCAs中。因此,在大多数SCA亚型中存在各种模式的动眼损害。本综述总结了最常见的polyQ-SCA的视觉动眼异常和前庭眼反射动力学，以及他们的遗传，临床和神经病理学特征。总之,系统评价眼球运动特征对polyQ-SCAs的鉴别诊断很有用。
