Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments

The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in intermediate filaments (IF) were found in myelinated and unmyelinated fiber axons of the peripheral nerve and in Schwann cells, endothelial cells of...

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Bibliographic Details
Published in:	European neurology Vol. 31; no. 1; p. 50
Main Authors:	Guazzi, G C, Malandrini, A, Gerli, R, Federico, A
Format:	Journal Article
Language:	English
Published:	Switzerland 1991
Subjects:	Adolescent Adult Axons - pathology Axons - ultrastructure Child Child, Preschool Endothelium, Vascular - ultrastructure Female Hair - ultrastructure Hereditary Sensory and Motor Neuropathy - pathology Humans Infant Intermediate Filaments - pathology Intermediate Filaments - ultrastructure Male Schwann Cells - ultrastructure
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Summary:	The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in intermediate filaments (IF) were found in myelinated and unmyelinated fiber axons of the peripheral nerve and in Schwann cells, endothelial cells of skin vessels, skin fibrocytes and melanocytes, confirming a generalized disorder of IF organization.
ISSN:	0014-3022
DOI:	10.1159/000116646