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  • Title: Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.
    Author: Livingstone IR, Gardner-Medwin D, Pennington RJ.
    Journal: J Neurol Sci; 1984 Apr; 64(1):89-97. PubMed ID: 6539810.
    Abstract:
    Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.
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