Leigh's disease due to a new mutation in the PDHX gene
Article first published online: 24 MAR 2006
Copyright © 2006 American Neurological Association
Annals of Neurology
Volume 59, Issue 4, pages 709–714, April 2006
How to Cite
Schiff, M., Miné, M., Brivet, M., Marsac, C., Elmaleh-Bergés, M., Evrard, P. and Ogier De Baulny, H. (2006), Leigh's disease due to a new mutation in the PDHX gene. Ann Neurol., 59: 709–714. doi: 10.1002/ana.20818
- Issue published online: 24 MAR 2006
- Article first published online: 24 MAR 2006
- Manuscript Accepted: 7 JAN 2006
- Manuscript Revised: 27 DEC 2005
- Manuscript Received: 21 AUG 2005
- AP-HP. Grant Number: CIC 03 004
To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases.
Brain magnetic resonance imaging (MRI), basal metabolic investigations with lactate measurements in body fluids, PDHc activity assay on cultured skin fibroblasts, immunoblot analysis and molecular studies (polymerase chain reaction [PCR] and sequencing procedures).
Our patient accused an unspecific encephalopathy for years and presented at 13 years of age an acute deterioration with basal ganglia necrosis and subcortical white matter involvement. PDHc deficiency was secondary to a large deletion (3913 bp) in the PDHX gene, which encodes E3 binding protein (E3BP) subunit.
These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene. Ann Neurol 2006;59:709–714