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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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© 1984 Published by Elsevier Inc.