Giant axonal neuropathy
- 1 November 1981
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 31 (11) , 1470
- https://doi.org/10.1212/wnl.31.11.1470
Abstract
Giant axonal neuropathy is characterized by large masses of filaments in neurons and other cells. Coomassie blue staining of the detergent-resistant cytoskeleton of cultured fibroblasts from three patients revealed cytoplasmic masses with the characteristics of aggregates of intermediate (8- to 10-nm) filaments. These fibroblast abnormalities provide definitive evidence for a genetic etiology of this disease and may be useful for prenatal diagnosis and for investigations of pathogenesis.This publication has 1 reference indexed in Scilit:
- Studies on the function and composition of the 10-nm(100- å) filaments of vertebrate smooth muscleJournal of Cell Science, 1977