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Departments of Neurology, Medicine, and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York (Drs. Griggs, Moxley, and Lafrance); and the Department of Pathology, University of Vermont, Burlington (Dr. McQuillen).
From early childhood, eight patients in a kindred had paroxysmal bouts of ataxia, dysarthria, and nystagmus. The disorder was inherited as an autosomal dominant. Attacks occurred weekly and lasted 1 to 6 hours; there were slight cerebellar signs between attacks. Although the etiology was not determined, a serendipitous trial of acetazolamide completely abolished attacks, and all patients have remained free of attacks for as long as 5 years.
Reprint requests should be addressed to Dr. Robert C. Griggs, Department of Neurology, 601 Elmwood Avenue, Rochester, NY 14642.
Supported in part by the Muscular Dystrophy Association and USPHS Grant No. RR 00044 from the Division of Research Resources of the National Institutes of Health.
This article was presented in part at the twenty-ninth meeting of the American Academy of Neurology, Atlanta, Georgia, April 29, 1977.
Accepted for publication January 4, 1978.
This article has been cited by other articles:
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S. Battistini, S. Stenirri, M. Piatti, C. Gelfi, P. G. Righetti, R. Rocchi, F. Giannini, N. Battistini, G. C. Guazzi, M. Ferrari, et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia Neurology, July 1, 1999; 53(1): 38 - 38. [Abstract] [Full Text] [PDF]
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