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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Axons / metabolism
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Axons / pathology*
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Brain / metabolism*
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Brain / pathology*
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Child
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Cytoskeletal Proteins / genetics
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Demyelinating Diseases / genetics
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Demyelinating Diseases / metabolism
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Demyelinating Diseases / pathology*
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Demyelinating Diseases / physiopathology*
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Disease Progression
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Female
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Humans
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Infant
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Magnetic Resonance Spectroscopy
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Metabolism, Inborn Errors / genetics
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Metabolism, Inborn Errors / metabolism
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Metabolism, Inborn Errors / pathology
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Metabolism, Inborn Errors / physiopathology
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Mutation
Substances
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Cytoskeletal Proteins
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GAN protein, human