Channelpedia

PubMed 23677664


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1 , cacnb4



Title: Acetazolamide-responsive ataxia.

Authors: Vikas Kotagal

Journal, date & volume: Semin Neurol, 2012 Nov , 32, 533-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23677664


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.