A gene, a protein, a cytoskeletal filament, and a devastating kids' disease

A rare but lethal disease in children, giant axonal neuropathy, is tracked to a failure to degrade intermediate filaments in the cytoskeleton

Giant axonal neuropathy (GAN) is an extremely rare genetic disorder that strikes at both the peripheral and central nervous systems of children. The leading GAN disease foundation, Hannah's Hope Fund, currently knows of 31 cases worldwide, 19 in the United States alone. But its rarity doesn't dull its severity in children affected by GAN. There are no symptoms at birth, but by age three the first signs of muscle weakness usually appear and progress slowly but steadily. With increasing difficulty in walking and coordinating hand movements, children with GAN are often wheelchair-bound by age 10. Over time, they become dependent on feeding and breathing tubes. A few will survive into young adulthood. The pathological markers for GAN are swollen (thus "giant") axons, filled with abnormal aggregates of neurofilaments, rich in structural proteins called intermediate filaments (IF). (Read more at http://www.ascb.org/pressbook/2012/)

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