Abstract
Patients with episodic ataxia type 2 (EA2) can often be successfully treated with acetazolamide. The authors report three patients with EA2 (two with proven mutations in the CACNA1A gene) whose attacks were prevented with the potassium channel blocker 4-aminopyridine (4-AP; 5 mg tid). Attacks recurred after treatment was stopped; subsequent treatment alleviated the symptoms (mean follow-up time 6 months). These effects might be due to an improvement of the impaired functioning of Purkinje cells.
Publication types
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Case Reports
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Clinical Trial
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Research Support, Non-U.S. Gov't
MeSH terms
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4-Aminopyridine / pharmacology
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4-Aminopyridine / therapeutic use*
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Acetazolamide / therapeutic use
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Adolescent
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Adult
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Ataxia / drug therapy*
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Ataxia / genetics
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Ataxia / prevention & control
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Calcium Channels / genetics
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Humans
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Male
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Middle Aged
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Mutation
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Nystagmus, Pathologic / drug therapy
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Nystagmus, Pathologic / genetics
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Potassium Channel Blockers / pharmacology
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Potassium Channel Blockers / therapeutic use*
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Purkinje Cells / drug effects
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Treatment Outcome
Substances
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Calcium Channels
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Potassium Channel Blockers
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4-Aminopyridine
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Acetazolamide