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Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia

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Abstract

Ataxia-telangiectasia is the second most common autosomal recessive hereditary ataxia, with an estimated incidence of 1 in 100,000 births. Besides ataxia and ocular telangiectasias, eye movement abnormalities have long been associated with this disorder and is frequently present in almost all patients. A handful of studies have described the phenomenology of ocular motor deficits in ataxia-telangiectasia. Contemporary literature linked their physiology to cerebellar dysfunction and secondary abnormalities at the level of brainstem. These studies, while providing a proof of concept of ocular motor physiology in disease, i.e., ataxia-telangiectasia, also advanced our understanding of how the cerebellum works. Here, we will summarize the clinical abnormalities seen with ataxia-telangiectasia in each subtype of eye movements and subsequently describe the underlying pathophysiology. Finally, we will review how these deficits are linked to abnormal cerebellar function and how it allows better understanding of the cerebellar physiology.

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Funding

This work was supported by the Dystonia Coalition Career Development Award (AS), Dystonia Medical Research Foundation Research Grant (AS), and the American Academy of Neurology Career Development Award (AS).

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  1. Department of Neurology, Neurology Service, Cleveland VA Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44110, USA

    Sherry Y. Tang & Aasef G. Shaikh

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Tang, S.Y., Shaikh, A.G. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum 18, 556–564 (2019). https://doi.org/10.1007/s12311-018-0990-x

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