Hereditary paroxysmal ataxia: response to acetazolamide.
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.
D000086:Acetazolamide / Q000627:therapeutic use*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002986:Clinical Trials as Topic; D005260:Female; D005621:Friedreich Ataxia / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007773:Lactates / Q000378:metabolism; D008297:Male; D011773:Pyruvates / Q000378:metabolism
D007773:Lactates; D011773:Pyruvates; D000086:Acetazolamide