Giant Axonal Neuropathy

Jätteaxonneuropati

Engelsk definition

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 (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Axonal Neuropathy, Giant Neuropathy, Giant Axonal Giant Axonal Neuropathy (GAN) Axonal Neuropathy, Giant (GAN) Neuropathy, Giant Axonal (GAN) Giant Axonal Neuropathy 1 Neuropathy, Giant Axonal, Autosomal Recessive Giant Axonal Neuropathy 1 (GAN1)