Physiologic alterations in ataxia: channeling changes into novel therapies.
The ataxias constitute a heterogeneous group of diseases in which cerebellar dysfunction 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 dysfunction stemming from perturbed channel activity likely explains some motor deficits in episodic and degenerative ataxias. Understanding these pathophysiologic changes may reveal novel therapeutic targets for symptomatic treatment of ataxia.
Shakkottai
Vikram G
VG
Department of Neurology, University of Michigan, Ann Arbor,Michigan, USA. vikramsh@med.umich.edu
Paulson
Henry L
HL
D001259:Ataxia / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D007473:Ion Channels / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000503:physiopathology / Q000628:therapy
D007473:Ion Channels