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.

Look at other dictionaries:

  • Giant axonal neuropathy — Classification and external resources OMIM 256850 DiseasesDB 33515 Giant axonal neuropathy is a rare, autosomal recessive …   Wikipedia

  • Neuropathy (disambiguation) — Neuropathy usually refers to peripheral neuropathy, which denotes damage to nerves of the peripheral nervous system. Neuropathy may also refer to: Cranial neuropathy, any condition affecting cranial nerves Auditory neuropathy, any condition… …   Wikipedia

  • Neuropathy — Any and all disease or malfunction of the nerves. * * * 1. A classical term for any disorder affecting any segment of the nervous system. 2. In contemporary usage, a disease involving the cranial nerves or the peripheral or autonomic nervous …   Medical dictionary

  • Optic neuropathy — Classification and external resources ICD 10 H46 The optic nerve contains axons of nerve cells that emerge from the retina, leave the eye at the optic disc, and go to the visual cortex where input from the eye is processed into vision. There are… …   Wikipedia

  • GAN (gene) — Giant axonal neuropathy (gigaxonin), also known as GAN, is a human gene. PBB Summary section title = summary text = This gene encodes a member of the cytoskeletal BTB/kelch (Broad Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats… …   Wikipedia

  • Charcot–Marie–Tooth disease — Charcot Marie Tooth disease Classification and external resources The foot of a person with Charcot Marie Tooth. The lack of muscle, a high arch, and claw toes are signs of the genetic disease. ICD 10 …   Wikipedia

  • Laminopathy — Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence note the irregular and bumpy shape of the laminopathic nuclei[1] Laminopathies are a group of rare genetic disorders… …   Wikipedia

  • List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

  • Monilethrix — Classification and external resources ICD 10 Q84.1 (ILDS Q84.140) ICD 9 757.4 …   Wikipedia

  • Meesmann juvenile epithelial corneal dystrophy — Classification and external resources Multiple opaque spots in the corneal epithelium ICD …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”