title: Childhood giant axonal neuropathy. Case report and review of the literature.
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.
authors.affiliation: Department of Neurology, University of Vermont College of Medicine, Burlington.
authors.forename: R
authors.initials: R
authors.lastname: Tandan
authors.forename: B W
authors.initials: BW
authors.lastname: Little
authors.forename: E S
authors.initials: ES
authors.lastname: Emery
authors.forename: P S
authors.initials: PS
authors.lastname: Good
authors.forename: W W
authors.initials: WW
authors.lastname: Pendlebury
authors.forename: W G
authors.initials: WG
authors.lastname: Bradley
mesh_terms: D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D002493:Central Nervous System Diseases / Q000235:genetics / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology*