Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.

Abstract

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.

• Authors: Knut Brockmann, Petra J W Pouwels, Peter Dechent, Kevin M Flanigan, Jens Frahm, Folker Hanefeld
• Journal: Brain & development (Brain Dev) Vol. 25 Issue 1 Pg. 45-50 (Jan 2003) ISSN: 0387-7604 [Print] Netherlands
• PMID: 12536033 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cytoskeletal Proteins
• GAN protein, human

Topics

• Axons (metabolism, pathology)
• Brain (metabolism, pathology)
• Child
• Cytoskeletal Proteins (genetics)
• Demyelinating Diseases (genetics, metabolism, pathology, physiopathology)
• Disease Progression
• Female
• Humans
• Infant
• Magnetic Resonance Spectroscopy
• Metabolism, Inborn Errors (genetics, metabolism, pathology, physiopathology)
• Mutation