Childhood giant axonal neuropathy. Case report and review of the literature.
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.
Tandan
R
R
Department of Neurology, University of Vermont College of Medicine, Burlington.
Little
B W
BW
Emery
E S
ES
Good
P S
PS
Pendlebury
W W
WW
Bradley
W G
WG
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*