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Semin Neurol 2023; 43(01): 048-064
DOI: 10.1055/s-0043-1763511
Review Article

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Chi-Ying R. Lin
1   Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas
2   Department of Neurology, Alzheimer's Disease and Memory Disorders Center, Baylor College of Medicine, Houston, Texas
,
Sheng-Han Kuo
3   Department of Neurology, College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York
4   Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York
› Author Affiliations Funding Dr. Kuo has received funding from the National Institutes of Health: NINDS #R01 NS118179 (principal investigator), NINDS #R01 NS104423 (principal investigator), NINDS #R03 NS114871 (principal investigator), Parkinson's Foundation, National Ataxia Foundation, and International Essential Tremor Foundation.
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Abstract

A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.

Keywords

ataxia - cerebellum - cerebellar ataxia

Author Contributions

C.R.L. and S.H.K.: original draft and critical revision of the manuscript.




Publication History

Article published online:
24 February 2023

© 2023. Thieme. All rights reserved.

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