Giant axonal neuropathy: A childhood disorder of microfilaments

Thomas Koch, Paul Schultz, Roger Williams, Peter Lampert

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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
DOIs
StatePublished - May 1977

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ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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