Giant axonal neuropathy is a rare, autosomal recessive[1] neurological disorder that causes disorganization of neurofilaments.

Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.

Giant axonal neuropathy results from mutations in the GAN gene, which codes for the protein gigaxonin.

These enlarged or 'giant' axons cannot transmit signals properly, and eventually deteriorate, resulting in the range of neurological anomalies associated with the disorder.

As the disorder progresses, central nervous system becomes involved, which may cause a gradual decline in mental function, loss of control of body movement, and seizures.