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Giant axonal neuropathy

Intermediate filament aggregates in cultured skin fibroblasts

Biochemical Genetics Laboratory, Montreal Neurological Institute, and Departments of Neurology, Neurosurgery and Pediatrics, McGill University, Montreal, Quebec, Canada.

Address correspondence and reprint requests to Dr. Pena, Montreal Neurological Institute, 3801 University Street, Montreal, P.Q. H3A 2B4, Canada.

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.

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				P. Bomont and M. Koenig Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization Hum. Mol. Genet., April 15, 2003; 12(8): 813 - 822. [Abstract] [Full Text] [PDF]