Other terms
Axonal Neuropathies, Giant,Axonal Neuropathy, Giant,Giant Axonal Neuropathies,Neuropathies, Giant Axonal,Neuropathy, Giant Axonal,Giant Axonal Neuropathy (GAN),Axonal Neuropathies, Giant (GAN),Axonal Neuropathy, Giant (GAN),Giant Axonal Neuropathies (GAN),Neuropathies, Giant Axonal (GAN),Neuropathy, Giant Axonal (GAN),Giant Axonal Neuropathy 1,Giant Axonal Neuropathy 1 (GAN1)
Description
Giant Axonal Neuropathy: Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (mental retardation, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
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