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Giant axonal neuropathy: A childhood disorder of microfilaments
Author(s) -
Koch Thomas,
Schultz Paul,
Williams Roger,
Lampert Peter
Publication year - 1977
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410010507
Subject(s) - remyelination , schwann cell , microfilament , pathology , sural nerve , intermediate filament , neurofilament , cytoplasm , axon , anatomy , medicine , biology , microbiology and biotechnology , neuroscience , cell , myelin , cytoskeleton , immunohistochemistry , central nervous system , genetics
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.