Autosomal dominant episodic ataxia: A heterogeneous syndrome

Authors

  • Dr. Stephen T. Gancher,

    Corresponding author
    1. Department of Neurology, Oregon Health Sciences University, Portland, Oregon, U.S.A.
    • Department of Neurology, Oregon Health Sciences University, 3181 Southwest Sam Jackson Park Rd., Portland, OR 97201, U.S.A.
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  • John G. Nutt

    1. Department of Neurology, Oregon Health Sciences University, Portland, Oregon, U.S.A.
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Abstract

We describe six kindreds with autosomal dominant episodic ataxia, apparently representing three distinct syndromes. Four kindreds were characterized by episodic ataxia and response to acetazolamide, and in three, interictal nystagmus. One kindred was characterized by paroxysmal ataxia and in one member, paroxysmal choreoathetosis. The last kindred had brief attacks of ataxia and interictal neuromyotonia. The age of onset and severity of the disorder varied within each kindred. These kindreds illustrate the heterogenity of episodic ataxia as well as the variable expressivity within each kindred.

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