Giant Axonal Neuropathy Alters the Structure of Keratin Intermediate Filaments in Human Hair

Giant axonal neuropathy (GAN) was found to alter the structure of keratin intermediate filaments in human hair. Patients with GAN exhibited phenotypes such as hypotonia, muscle weakness, and often curled hair. The study used X-ray diffraction and tensile testing to analyze hair from GAN patients, revealing a significant decrease in the 47 and 27 Å diffraction signals. Additionally, the hair was slightly stiffer, stronger, and more extensible. These findings suggested an increased positional disorder of keratin tetramers within the hair fibers in GAN patients.