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  • Title: Childhood giant axonal neuropathy. Case report and review of the literature.
    Author: Tandan R, Little BW, Emery ES, Good PS, Pendlebury WW, Bradley WG.
    Journal: J Neurol Sci; 1987 Dec; 82(1-3):205-28. PubMed ID: 2831308.
    Abstract:
    Giant axonal neuropathy (GAN) is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. Typically seen are distal axonal swellings filled with 8-10 nm in diameter neurofilaments in central and peripheral axons, and intermediate filament collections in several other cell types. Many neurotoxins produce a morphologically similar neuropathy in humans and experimental animals. Defective nerve fiber energy metabolism has been postulated as a cause in these toxic neuropathies. It is possible that GAN represents an inborn error of metabolism of enzyme-linked sulfhydryl containing proteins, resulting in impaired production of energy necessary for the normal organization of intermediate filaments.
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