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Acetazolamide-responsive episodic ataxia syndrome

Reed Neurological Research Center (Drs. Zasorin and Baloh), UCLA, Los Angeles, CA, and Dr. Myers, Eugene, OR.

We studied a kindred with an acetazolamide-responsive, episodic ataxia syndrome. Affected members experienced paroxysmal attacks of ataxia that were precipitated by exertion or stress. All but one young patient had additional neurologic symptoms that included paresthesia, weakness, headache, tinnitus, vertigo, and myotonia. All symptoms were prevented by acetazolamide. Between attacks, serum pyruvate and lactate levels and urinary amino acids were normal, but electroencephalomams showed paroxysmal, high-amplitude, slow and sharp activity. Serum K⁺ was normal during attacks. The metabolic abnormality seems to affect the cerebellum and brainstem and may involve peripheral nerve and muscle.

Address correspondence and reprint requests to Dr. Baloh, Reed Neurological Research Center, UCLA Center for the Health Sciences, Los Angeles, CA 90024.

Dr. Zasorin was supported in part by USPHS grant No. NS 07059.

Accepted for publication January 6, 1983.

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