Physiologic Alterations in Ataxia

Abstract

T he ataxias constitute a heterogeneous group of diseases in which cerebellar dysfunc- tion typically underlies the major neurologic manifestations. It is increasingly clear that ataxia can result directly from mutations in ion channels or from perturbations in ion channel physiology in the absence of a primary channel defect. Neuronal dysfunc- tion stemming from perturbed channel activity likely explains some motor deficits in episodic and degenerative ataxias. Understanding these pathophysiologic changes may reveal novel therapeu- tic targets for symptomatic treatment of ataxia.