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.
D000293:Adolescent; D001369:Axons / Q000473:pathology*; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D003599:Cytoskeleton / Q000648:ultrastructure*; D005347:Fibroblasts / Q000648:ultrastructure*; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*