Leigh's disease due to a new mutation in thePDHXgene
| Autor: | Philippe Evrard, Cécile Marsac, Michèle Brivet, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Manuel Schiff, Manuèle Miné |
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| Rok vydání: | 2006 |
| Předmět: |
Pathology
medicine.medical_specialty Adolescent Genetic Linkage Blotting Western DNA Mutational Analysis Encephalopathy Pyruvate Dehydrogenase Complex medicine.disease_cause E3 binding protein White matter Basal ganglia necrosis medicine Humans RNA Messenger Leigh disease Mutation biology Reverse Transcriptase Polymerase Chain Reaction medicine.disease Pyruvate dehydrogenase complex Magnetic Resonance Imaging Pyruvate dehydrogenase deficiency Review Literature as Topic medicine.anatomical_structure Neurology biology.protein Female Neurology (clinical) Leigh Disease |
| Zdroj: | Annals of Neurology. 59:709-714 |
| ISSN: | 1531-8249 0364-5134 |
| Popis: | Objective 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. Methods 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). Results 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. Interpretation 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 |
| Databáze: | OpenAIRE |
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