Childhood giant axonal neuropathy case report and review of the literature

Rup Tandan, Brian W. Little, Edward S. Emery, Paul S. Good, William W. Pendlebury, Walter G. Bradley

Research output: Contribution to journalArticle

27 Scopus citations

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 mm 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 or metabolism of enzyme-linked sulfhydryl containing proteins, resulting in impaired production of energy necessary for the normal organization of intermediate filaments.

Original languageEnglish (US)
Pages (from-to)205-228
Number of pages24
JournalJournal of the Neurological Sciences
Volume82
Issue number1-3
DOIs
StatePublished - Dec 1987
Externally publishedYes

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Keywords

  • Acrylamide
  • Giant axons
  • Glue sniffers neuropathy
  • Granular condesations
  • Hexacarbons
  • Intermediate filaments
  • Neurofilament-microtubule interaction
  • Sulfhydryl proteins

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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