TY - JOUR
T1 - Giant axonal neuropathy
T2 - A childhood disorder of microfilaments
AU - Koch, Thomas
AU - Schultz, Paul
AU - Williams, Roger
AU - Lampert, Peter
PY - 1977/5
Y1 - 1977/5
N2 - 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.
AB - 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.
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U2 - 10.1002/ana.410010507
DO - 10.1002/ana.410010507
M3 - Article
C2 - 214018
AN - SCOPUS:0017487351
SN - 0364-5134
VL - 1
SP - 438
EP - 451
JO - Annals of Neurology
JF - Annals of Neurology
IS - 5
ER -