Acetazolamide-responsive ataxia

Semin Neurol. 2012 Nov;32(5):533-7. doi: 10.1055/s-0033-1334475. Epub 2013 May 15.


Acetazolamide-responsive ataxia represents a unique collection of genetically distinct episodic ataxia (EA) disorders associated with paroxysmal cerebellar symptoms many of which are responsive to medical treatment with acetazolamide, a carbonic anhydrase inhibitor. Among all of the subtypes of episodic ataxia, types 2 (EA2), 3 (EA3), and 5 (EA5) are thought be the most medication responsive. Some patients with episodic ataxia type 1 (EA1) will also describe improvement with acetazolamide. Each of these individual genetic syndromes is characterized by its own unique mechanism and clinical presentation. In this review, the author provides an overview of the pathophysiology of acetazolamide-responsive ataxia, its natural history, and its clinical management.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acetazolamide / therapeutic use*
  • Ataxia / classification
  • Ataxia / diagnosis*
  • Ataxia / drug therapy*
  • Calcium Channels / drug effects*
  • Carbonic Anhydrase Inhibitors / therapeutic use*
  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Treatment Outcome


  • Calcium Channels
  • Carbonic Anhydrase Inhibitors
  • Acetazolamide