title: Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients.
abstract: Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain, dystrophin is associated with GABAA receptors and aquaporin-4 in neurons and astrocytes, respectively, but little is known about its function.
  
  
  
  In this study we aimed to compare the biochemical composition between patients and healthy controls in brain regions that are naturally rich in dystrophin using magnetic resonance spectroscopy. Given previous conflicting results obtained at clinical field strengths, we obtained data using a 7 Tesla system with associated higher signal-to-noise ratio and spectral resolution.
  
  
  
  Results indicated unchanged biochemical composition in all regions investigated, and increased variance in glutamate in the frontal cortex.
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.|Leiden Institute for Brain and Cognition, Leiden, The Netherlands.|Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Doorenweerd
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Melissa
authors.initials: M
authors.lastname: Hooijmans
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Schubert
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Webb
authors.affiliation: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Chiara S M
authors.initials: CS
authors.lastname: Straathof
authors.affiliation: Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Erik W
authors.initials: EW
authors.lastname: van Zwet
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Mark A
authors.initials: MA
authors.lastname: van Buchem
authors.affiliation: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Jan J G M
authors.initials: JJ
authors.lastname: Verschuuren
authors.affiliation: Department of Neurological Learning Disabilities, Kempenhaeghe Epilepsy Center, Heeze, The Netherlands.|Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
authors.forename: Jos G M
authors.initials: JG
authors.lastname: Hendriksen
authors.affiliation: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Erik H
authors.initials: EH
authors.lastname: Niks
authors.affiliation: Department of Radiology, C.J. Gorter Center for High Field MRI, Leiden University Medical Center, Leiden, The Netherlands.|Leiden Institute for Brain and Cognition, Leiden, The Netherlands.
authors.forename: Hermien E
authors.initials: HE
authors.lastname: Kan
mesh_terms: D000293:Adolescent; D051401:Aquaporin 4 / Q000378:metabolism; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000000981:diagnostic imaging* / Q000378:metabolism; D016022:Case-Control Studies; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000378:metabolism; D002648:Child; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000378:metabolism; D018698:Glutamic Acid / Q000378:metabolism; D005973:Glutamine / Q000378:metabolism; D006624:Hippocampus / Q000000981:diagnostic imaging / Q000378:metabolism; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000000981:diagnostic imaging* / Q000378:metabolism; D066244:Proton Magnetic Resonance Spectroscopy; D011963:Receptors, GABA-A / Q000378:metabolism
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D011963:Receptors, GABA-A; D005973:Glutamine; D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline
keywords: Duchenne muscular dystrophy; brain; magnetic resonance spectroscopy; metabolites