Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.

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.

journal_name

J Neurol Sci

authors

Livingstone IR,Gardner-Medwin D,Pennington RJ

doi

10.1016/0022-510x(84)90059-5

subject

Has Abstract

pub_date

1984-04-01 00:00:00

pages

89-97

issue

1

eissn

0022-510X

issn

1878-5883

pii

0022-510X(84)90059-5

journal_volume

64

pub_type

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