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.

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

[citation needed] Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive.

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.