Ataxias: Hereditary, Acquired, and Reversible Etiologies

Chi Ying R. Lin, Sheng Han Kuo

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)48-64
Number of pages17
JournalSeminars in Neurology
Volume43
Issue number1
DOIs
StatePublished - 3 Apr 2023
Externally publishedYes

Keywords

  • ataxia
  • cerebellar ataxia
  • cerebellum

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