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Brain Advance Access originally published online on June 15, 2007
Brain 2007 130(10):2484-2493; doi:10.1093/brain/awm126
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© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Review Article

Primary episodic ataxias: diagnosis, pathogenesis and treatment

J.C. Jen1, T.D. Graves2, E.J. Hess3, M.G. Hanna2, R.C. Griggs4, R.W. Baloh1 and the CINCH investigators

1Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA, 2Department of Molecular Neuroscience, National Hospital for Neurology, Queen Square, London, UK, 3Department of Neurology & Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA and 4Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA

Correspondence to: Joanna C. Jen, UCLA Neurology, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA E-mail: jjen{at}ucla.edu

Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype–phenotype correlations, pathophysiology and treatment of episodic ataxia syndromes. We focus on unresolved issues including phenotypic and genetic heterogeneity, lessons from animal models and technological advancement, rationale and feasibility of various treatment strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal conditions such as epilepsy and migraine.

Key Words: episodic ataxia; channelopathies; review

Abbreviations: CSD, cortical spreading depression; EA, episodic ataxia; IPSCs, inhibitory post-synaptic currents

Received March 21, 2007. Revised May 1, 2007. Accepted May 4, 2007.


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