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A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias

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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.

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

    Mehri Salari, Ronak Rashedi & Sayna Mardani

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

    Masoud Etemadifar

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Table 1 A summary of the onset age, mutations, pathology, and ocular movement abnormalities in cerebellar ataxias (DOCX 206 kb)

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Salari, M., Etemadifar, M., Rashedi, R. et al. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias. Cerebellum 23, 702–721 (2024). https://doi.org/10.1007/s12311-023-01554-0

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