ACETAZOLAMIDE-RESPONSIVE FAMILIAL PAROXYSMAL ATAXIA

  • 1 January 1985
    • journal article
    • research article
    • Vol. 141  (3) , 203-206
Abstract
This family is the 10th reported world-wide and the 2nd reported in Europe; 2 of 3 brothers, their mother and probably their maternal grandmother were affected. Clinical features were paroxysmal bouts of ataxia and dysarthria, nystagmus of permanent gaze, the dominant autosomal transmission, the benign nature of the affection and the remarkable efficacy of acetazolamide were typical of familial paroxysmal ataxia. Specific points emphasized are the presence of a mild pyramidal syndrome as a permanent finding in 2 of these patients. The anomalies of visual (longer lag period) and somesthetic (slowed conduction rate in the lemniscus medialis) evoked potentials, are probably the result of extension into other pathways than the cerebellar system. The findings of some degree of glucose intolerance, noted previously raises the question of the place of this disease in the group of paroxysmal ataxias due to pyruvic metabolism disorders.

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