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遗传性小脑共济失调的眼球运动异常综述。

A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.

机构信息

Neurology Department, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Department of Functional Neurosurgery, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Cerebellum. 2024 Apr;23(2):702-721. doi: 10.1007/s12311-023-01554-0. Epub 2023 Mar 31.

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

小脑性共济失调是一组广泛的异质性疾病,可能表现为精细运动缺陷以及步态和平衡障碍,这些障碍对日常活动有重大影响。为了回顾小脑性共济失调中的眼球运动,以提高对小脑性共济失调和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 月发表的英文论文。主要搜索关键词是眼球运动、眼动、眼球运动和眼球运动,以及每种共济失调亚型。对符合条件的论文进行了分析,以了解其临床表现、涉及的突变、潜在的病理和眼球运动改变。讨论了 43 种脊髓小脑性共济失调亚型以及一些常染色体显性和常染色体隐性共济失调亚型,涉及病理、临床表现、涉及的突变,并重点讨论了眼部异常。使用眼球运动表现制作了一个流程图,以区分不同的共济失调亚型。并以图示模型的形式回顾了每种亚型的潜在病理,以更好地了解每种疾病。

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