Giant axonal neuropathy

Giant axonal neuropathy (GAN) is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments.

Neurofilaments are a structural framework that helps define the shape and size of neurons.

Neurofilaments are essential for normal nerve function. 

A distinguishing feature of is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair.

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

Mutations in the GAN gene, alters the shape of the protein, changing how it interacts with other proteins when organizing the structure of the neuron.

Neurons that are altered proteins accumulate excess neurofilaments in the axon, and these enlarged or giant axons cannot transmit signals properly, and eventually deteriorate, resulting in the range of neurological abnormalities associated with the disorder

This disease is an autosomal recessive disorder.

GAN usually appears in infancy or early childhood 

It is a progressive process.

Individuals with this disorder to have problems walking. 

Later on normal sensation, coordination, strength, and reflexes become affected. 

Hearing or vision problems may also occur. 

Abnormally kinky hair is characteristic of giant axonal neuropathy, appearing in almost all cases. 

CNS involvement which may cause a gradual decline in mental function, loss of control of body movement, and seizures.

Intrathecal gene therapy may result in possible motor benefit function.

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