title: Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.
abstract: Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is difficult and genotype/phenotype correlations remain elusive. Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions observed in the most frequent mitochondrial respiratory chain deficiencies so as to direct molecular genetic test in patients at risk of such diseases. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Bricout
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Grévent
authors.affiliation: Department of Genetic Units, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: A S
authors.initials: AS
authors.lastname: Lebre
authors.affiliation: Department of Genetic Units, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.affiliation: Department of Neurology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Department of Neurology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: De Lonlay
authors.affiliation: Department of Neurology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Valayannopoulos
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Brunelle
authors.affiliation: Department of Genetic Units, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.affiliation: Department of Genetic Units, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Boddaert
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology; D045222:Electron Transport Chain Complex Proteins / Q000172:deficiency*; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000378:metabolism / Q000473:pathology*; D059906:Neuroimaging; D014451:Ubiquinone / Q000172:deficiency
chemical_list: D045222:Electron Transport Chain Complex Proteins; D014451:Ubiquinone
keywords: Genetics; Metabolic disorders; Neurology; Pediatric Radiology