title: 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.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI 48105, USA. vikaskot@med.umich.edu
authors.forename: Vikas
authors.initials: V
authors.lastname: Kotagal
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D001259:Ataxia / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy*; D015220:Calcium Channels / Q000187:drug effects*; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome
chemical_list: D015220:Calcium Channels; D002257:Carbonic Anhydrase Inhibitors; D000086:Acetazolamide