Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts
SDJ Pena - Neurology, 1981 - AAN Enterprises
Neurology, 1981•AAN Enterprises
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.
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.
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.
American Academy of Neurology