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 skin vessels, skin fibrocytes and melanocytes, confirming a generalized disorder of IF organization.
Guazzi
G C
GC
Istituto di Scienze Neurologiche, Università di Siena, Italia.
Malandrini
A
A
Gerli
R
R
Federico
A
A
D000293:Adolescent; D000328:Adult; D001369:Axons / Q000473:pathology / Q000648:ultrastructure*; D002648:Child; D002675:Child, Preschool; D004730:Endothelium, Vascular / Q000648:ultrastructure; D005260:Female; D006197:Hair / Q000648:ultrastructure; D015417:Hereditary Sensory and Motor Neuropathy / Q000473:pathology*; D006801:Humans; D007223:Infant; D007382:Intermediate Filaments / Q000473:pathology / Q000648:ultrastructure*; D008297:Male; D012583:Schwann Cells / Q000648:ultrastructure