A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Fiche publication
Date publication
janvier 2011
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N
Lien Pubmed
Résumé
To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondrial DNA (mtDNA) and 38 core subunits encoded by nuclear DNA (nDNA). Moreover, its assembly requires six known and many unknown assembly factors. To date, no correlation between genotypes and brain MRI phenotypes has been found in complex I deficiencies.
Mots clés
Adolescent, Adult, Brain, enzymology, Child, Child, Preschool, Electron Transport Complex I, deficiency, Female, Humans, Infant, Leukoencephalopathies, complications, Magnetic Resonance Imaging, methods, Male, Middle Aged, Mitochondrial Diseases, diagnostic imaging, Mutation, genetics, Pyruvate Dehydrogenase Complex, genetics, Radiography, Stroke, complications, Young Adult
Référence
J. Med. Genet.. 2011 Jan;48(1):16-23