Affiliations: [a] 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
| [c] Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
| [d] Department of Neurological Learning Disabilities, Kempenhaeghe Epilepsy Center, Heeze, The Netherlands
| [e] Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands
| [f] Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
Correspondence to: Nathalie Doorenweerd, Department of Radiology C-03-Q, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Tel.: +31715264647; Fax: +31715248256; E-mail: [email protected].
Note:  Current additional affiliation: John Walton Muscular Dystrophy Research Centre, International Centre for Life, Newcastle University, Newcastle Upon Tyne, UK.
Abstract: Background: 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. Objective and Methods: 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: Results indicated unchanged biochemical composition in all regions investigated, and increased variance in glutamate in the frontal cortex.
Keywords: Duchenne muscular dystrophy, brain, magnetic resonance spectroscopy, metabolites