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Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.

Authors :
Bindoff LA
Birch-Machin MA
Farnsworth L
Gardner-Medwin D
Lindsay JG
Turnbull DM
Source :
Journal of the neurological sciences [J Neurol Sci] 1989 Nov; Vol. 93 (2-3), pp. 311-8.
Publication Year :
1989

Abstract

Disturbances of pyruvate metabolism have been implicated in the aetiology of several neurological disorders including Leigh's disease and familial ataxia. We have re-investigated a patient whose initial description documented intermittent ataxia, a presumed disorder of pyruvate metabolism and an X-linked pattern of inheritance. Recent studies showed he had slow oxidation of pyruvate, low pyruvate dehydrogenase complex (PDC) activity and immunochemical evidence of E1 deficiency in skeletal muscle mitochondria. This is consistent with the recent finding that the gene for E1 alpha is on the X chromosome.

Details

Language :
English
ISSN :
0022-510X
Volume :
93
Issue :
2-3
Database :
MEDLINE
Journal :
Journal of the neurological sciences
Publication Type :
Academic Journal
Accession number :
2592988
Full Text :
https://doi.org/10.1016/0022-510x(89)90200-1