Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.
Magnetic resonance imaging of a girl with giant axonal neuropathy revealed a progressive white matter disease. In close agreement with histopathological features reported previously, localized proton magnetic resonance spectroscopy at 9 and 12 years of age indicated a specific damage or loss of axons (reduced N-acetylaspartate and N-acetylaspartylglutamate) accompanied by acute demyelination (elevated choline-containing compounds, myo-inositol, and lactate) in white matter as well as a generalized proliferation of glial cells (elevated choline-containing compounds and myo-inositol) in both gray and white matter.
Brockmann
Knut
K
Department of Pediatrics and Neuropediatrics, Georg-August-Universität, Children's Hospital, Robert-Koch-Strasse 40, 37075 Goettingen, Germany. kbrock@med.uni-goettingen.de
Pouwels
Petra J W
PJ
Dechent
Peter
P
Flanigan
Kevin M
KM
Frahm
Jens
J
Hanefeld
Folker
F
D001369:Axons / Q000378:metabolism / Q000473:pathology*; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation
D003598:Cytoskeletal Proteins; C416508:GAN protein, human