Giant axonal neuropathy

a childhood disorder of microfilaments.

T. Koch, P. Schultz, R. Williams, P. Lampert

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

A sural nerve biopsy was performed on an 8-year-old boy with a chronic, slowly progressive polyneuropathy. Light and electron microscopy as well as teased nerve-fiber preparations demonstrated numerous giant axons filled with closely packed neurofilaments. Both myelinated and unmyelinated fibers were involved. Segmental demyelination, remyelination, and onion-bulb formation by multiple Schwann cell processes were observed, suggesting recurrent Schwann cell dysfunction. Abundant aggregates of cytoplasmic microfilaments occurred in Schwann cells, endothelial cells, perineurial cells, endoneurial fibroblasts, and endomysial fibroblasts. These findings support the proposal that giant axonal neuropathy is a generalized disorder of cytoplasmic microfilaments and that segmental demyelination occurs concomitantly with axonal and Schwann cell disease. The pathogenesis of this rare disorder is discussed with reference to experimental toxic neuropathies.

Original languageEnglish (US)
Pages (from-to)438-451
Number of pages14
JournalAnnals of Neurology
Volume1
Issue number5
StatePublished - May 1977

Fingerprint

Giant Axonal Neuropathy
Schwann Cells
Actin Cytoskeleton
Demyelinating Diseases
Fibroblasts
Sural Nerve
Onions
Intermediate Filaments
Polyneuropathies
Poisons
Nerve Fibers
Axons
Electron Microscopy
Endothelial Cells
Biopsy
Light

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Koch, T., Schultz, P., Williams, R., & Lampert, P. (1977). Giant axonal neuropathy: a childhood disorder of microfilaments. Annals of Neurology, 1(5), 438-451.

Giant axonal neuropathy : a childhood disorder of microfilaments. / Koch, T.; Schultz, P.; Williams, R.; Lampert, P.

In: Annals of Neurology, Vol. 1, No. 5, 05.1977, p. 438-451.

Research output: Contribution to journalArticle

Koch, T, Schultz, P, Williams, R & Lampert, P 1977, 'Giant axonal neuropathy: a childhood disorder of microfilaments.', Annals of Neurology, vol. 1, no. 5, pp. 438-451.
Koch T, Schultz P, Williams R, Lampert P. Giant axonal neuropathy: a childhood disorder of microfilaments. Annals of Neurology. 1977 May;1(5):438-451.
Koch, T. ; Schultz, P. ; Williams, R. ; Lampert, P. / Giant axonal neuropathy : a childhood disorder of microfilaments. In: Annals of Neurology. 1977 ; Vol. 1, No. 5. pp. 438-451.
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