Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts

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.