Abstract:
Cerebellar ataxias are a wide heterogeneous group of disorders that may present with fine motor deficits as well as gait and balance disturbances that have a significant influence on everyday activities. To review the ocular movements in cerebellar ataxias in order to improve the clinical knowledge of cerebellar ataxias and related subtypes. English papers published from January 1990 to May 2022 were selected by searching PubMed services. The main search keywords were ocular motor, oculomotor, eye movement, eye motility, and ocular motility, along with each ataxia subtype. The eligible papers were analyzed for clinical presentation, involved mutations, the underlying pathology, and ocular movement alterations. Forty-three subtypes of spinocerebellar ataxias and a number of autosomal dominant and autosomal recessive ataxias were discussed in terms of pathology, clinical manifestations, involved mutations, and with a focus on the ocular abnormalities. A flowchart has been made using ocular movement manifestations to differentiate different ataxia subtypes. And underlying pathology of each subtype is reviewed in form of illustrated models to reach a better understanding of each disorder.
摘要:
小脑共济失调是一组广泛的异质性疾病,可能表现为精细的运动缺陷以及步态和平衡障碍,对日常活动有重大影响。回顾小脑共济失调的眼球运动,以提高对小脑共济失调及相关亚型的临床认识。通过搜索PubMed服务选择了1990年1月至2022年5月发表的英语论文。主要搜索关键词是眼运动,动眼,眼球运动,眼睛运动,和眼运动,以及每种共济失调亚型。对符合条件的论文进行临床表现分析,涉及的突变,潜在的病理学,和眼球运动改变。在病理学方面讨论了脊髓小脑性共济失调的43种亚型以及许多常染色体显性和常染色体隐性共济失调,临床表现,涉及的突变,重点关注眼部异常。已使用眼球运动表现来区分不同的共济失调亚型。并以图示模型的形式审查每种亚型的潜在病理学,以更好地理解每种疾病。