Ataxias: Hereditary, Acquired, and Reversible Etiologies

Semin Neurol. 2023 Feb;43(1):48-64. doi: 10.1055/s-0043-1763511. Epub 2023 Feb 24.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Ataxia / etiology
  • Ataxia / genetics
  • Cerebellar Ataxia* / etiology
  • Cerebellar Ataxia* / genetics
  • Genetic Testing
  • Humans
  • Multiple System Atrophy*
  • Neuroimaging