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Semin Neurol 2012; 32(05): 533-537
DOI: 10.1055/s-0033-1334475
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Acetazolamide-Responsive Ataxia

Vikas Kotagal
1   Department of Neurology, University of Michigan, Ann Arbor, Michigan
› Author Affiliations
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Publication History

Publication Date:
15 May 2013 (online)

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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.

Keywords

acetazolamide - episodic ataxia - autosomal dominant - cerebellum - channelopathy - 4-aminopyridine
 

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