giant axonal neuropathy

giant axonal neuropathy
an autosomal recessive neuropathy of childhood due to mutation in the GAN gene (locus: 16q24.1), which encodes gigaxonin, a protein involved in the ubiquitin-proteasome system targeting damaged proteins for destruction. There are central and peripheral nervous system symptoms and enlarged axons made up of masses of tightly woven neurofilaments.

Giant axonal neuropathy. (A), Prominent eosinophilic enlarged axons are randomly distributed and occasionally surrounded by rings of Schwann cells. (B), Immunohistochemical staining demonstrating neurofilaments in axonal spheroids.

Medical dictionary. 2011.

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