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Acetazolamide-responsive ataxia.

Abstract
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.
AuthorsVikas Kotagal
JournalSeminars in neurology (Semin Neurol) Vol. 32 Issue 5 Pg. 533-7 (Nov 2012) ISSN: 1098-9021 [Electronic] United States
PMID23677664 (Publication Type: Case Reports, Journal Article, Review)
CopyrightThieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Chemical References
  • Calcium Channels
  • Carbonic Anhydrase Inhibitors
  • Acetazolamide
Topics
  • Acetazolamide (therapeutic use)
  • Ataxia (classification, diagnosis, drug therapy)
  • Calcium Channels (drug effects)
  • Carbonic Anhydrase Inhibitors (therapeutic use)
  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Treatment Outcome

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