Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.

Abstract excerpt

Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best known for the "giant" axons caused by accumulations of intermediate filaments. The disease is progressive, with onset around age 3 years and death by the third decade of life. GAN results from recessive mutations in the GAN gene encoding gigaxonin, and our analysis of all reported mutations shows that they are distributed...

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• Cytoskeletal Proteins
• Disease Progression
• Intermediate Filaments
• Mutation