Childhood giant axonal neuropathy. Case report and review of the literature.
J Neurol Sci
; 82(1-3): 205-28, 1987 Dec.
Article
em En
| MEDLINE
| ID: mdl-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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Base de dados:
MEDLINE
Assunto principal:
Axônios
/
Doenças do Sistema Nervoso Central
/
Doenças do Sistema Nervoso Periférico
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
1987
Tipo de documento:
Article