Familial periodic ataxia responsive to acetazolamide.
Two cases, a father and son, of recurrent cerebellar ataxia in the same family are reported, suggesting a familial trait for the dysfunction. In the older male the onset of each episode (30-90 min.) was signalled by dysarthria which then progressed towards gait ataxia; the son presented closely similar clinical symptoms. Physical examination and blood chemistry revealed no obvious neurological deficit or biochemical abnormalities, with the exception of I-III and III-IV evoked auditory wave interpeak latencies, which were found markedly abnormal on the left side in the father but not in the son; the EEG of both individuals showed some diffuse, slow wave abnormalities. A low dose of acetazolamide, 250 mg daily, has successfully repressed recurrence of the attacks over the past six months. Temporary withdrawal for 14 days of the carbonic anhydrase inhibitor in the father coincided with two observed ataxic episodes.
D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D001259:Ataxia / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D001933:Brain Stem / Q000503:physiopathology; D002256:Carbonic Anhydrases / Q000378:metabolism; D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D006801:Humans; D008297:Male; D008875:Middle Aged; D009457:Neuroglia / Q000378:metabolism; D010507:Periodicity
D002256:Carbonic Anhydrases; D000086:Acetazolamide