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- Title
Leigh's disease due to a new mutation in the PDHX gene.
- Authors
Manuel Schiff; Manuele Miné; Michèle Brivet; Cécile Marsac; Monique Elmaleh‐Bergés; Philippe Evrard; Hélène Ogier De Baulny
- Abstract
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
- Subjects
MEDICAL imaging systems; DEHYDROGENASES; POLYMERASE chain reaction; GENETIC mutation
- Publication
Annals of Neurology, 2006, Vol 59, Issue 4, p709
- ISSN
0364-5134
- Publication type
Article