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Familial periodic ataxia responsive to acetazolamide

Published online by Cambridge University Press:  18 September 2015

J.P. Bouchard ,
C. Roberge ,
N.M. van Gelder  and
A. Barbeau
J.P. Bouchard
Affiliation:
L'Hôpital de l'Enfant-Jésus, Quebec City
C. Roberge
Affiliation:
L'Hôpital de l'Enfant-Jésus, Quebec City
N.M. van Gelder
Affiliation:
Clinical Research Institute of Montreal and University of Montreal
A. Barbeau*
Affiliation:
Clinical Research Institute of Montreal and University of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W 1R7
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Abstract

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Twocases,afather and son, of recurrent cerebellarataxiain the same family are reported, suggestingafamilial 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.

Type
A—Clinical Studies
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 550 - 553
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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