Hereditary paroxysmal cerebellopathy: responsiveness to acetazolamide.
We describe kindred in which affected members had paroxysmal attacks of gait ataxia and other cerebellar symptoms. The mode of inheritance was autosomal dominant. Stress or emotion precipitated attacks. Examination between attacks revealed nystagmus but no other neurologic signs. After adulthood there was no progression of symptoms. Acetazolamide therapy successfully abolished the attacks.
Koller
W
W
Bahamon-Dussan
J
J
D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D006801:Humans; D008297:Male; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000188:drug therapy* / Q000235:genetics
D000086:Acetazolamide