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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy.

The diagnostic potential of volume-selective proton magnetic resonance (MR) spectroscopy in vivo was evaluated in 20 children and young adults with various neurodegenerative brain disorders. All patients were examined with MR spectroscopy in conjunction with MR imaging of the brain on a whole-body imager at 1.5 T. Comparison of spectra in our patients with those of children with normal myelination (prominent signals from N-acetylaspartate [NAA], creatine/phosphocreatine, and choline) revealed a marked decrease of NAA in 12 of 17 patients with focal or generalized demyelination. In patients with Canavan disease, NAA signal intensity was markedly increased, but no choline signal was found. Increased signal intensity from lactate occurred in patients with Leigh disease, neuroaxonal dystrophy, Schilder disease, and Cockayne disease, which indicated a disturbed energy metabolism in the examined region. These results demonstrate that proton MR spectroscopy can be applied in a clinical environment to facilitate diagnosis of hereditary and acquired brain disorders in children.[1]


  1. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Grodd, W., Krägeloh-Mann, I., Klose, U., Sauter, R. Radiology. (1991) [Pubmed]
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