Giant axonal neuropathy

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Giant axonal neuropathy
Giant axonal neuropathy has an autosomal recessive pattern of inheritance.
Specialty	Neurology

Giant axonal neuropathy is a rare,

Giant axonal neuropathy results from mutations in the GAN gene, which codes for the protein gigaxonin. This alters the shape of the protein, changing how it interacts with other proteins when organizing the structure of the neuron.^{[citation needed]}

Neurons affected by the altered protein accumulate excess neurofilaments in the

Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, 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. 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.^{[citation needed]}

Treatment

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See also

• Polyneuropathy in dogs and cats

References