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).
Also Known As:
Axonal Neuropathies, Giant; Axonal Neuropathies, Giant (GAN); Axonal Neuropathy, Giant; Axonal Neuropathy, Giant (GAN); Giant Axonal Neuropathies; Giant Axonal Neuropathies (GAN); Neuropathies, Giant Axonal; Neuropathies, Giant Axonal (GAN); Neuropathy, Giant Axonal (GAN); Giant Axonal Neuropathy (GAN); Giant Axonal Neuropathy 1; Giant Axonal Neuropathy 1 (GAN1); Neuropathy, Giant Axonal
Networked: 26 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neurodegenerative Diseases (Neurodegenerative Disease)
2. Pressure Ulcer (Bedsore)
3. Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
4. Nervous System Diseases (Neurological Disorders)
5. Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)


1. Opal, Puneet: 2 articles (05/2013 - 01/2013)
2. Goldman, Robert D: 2 articles (05/2013 - 01/2013)
3. Tibshirani, Michael: 1 article (06/2015)
4. Durham, Heather D: 1 article (06/2015)
5. Gentil, Benoit J: 1 article (06/2015)
6. Garcia Diaz, Alejandro: 1 article (01/2015)
7. Wichterle, Hynek: 1 article (01/2015)
8. Ekins, Sean: 1 article (01/2015)
9. Johnson-Kerner, Bethany L: 1 article (01/2015)
10. Bharath, M M Srinivas: 1 article (02/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Giant Axonal Neuropathy:
1. Oxandrolone (Anavar)FDA LinkGeneric
2. VimentinIBA
3. n-hexaneIBA
4. Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
5. 2,5-hexanedioneIBA
6. UbiquitinIBA
7. Neurofilament ProteinsIBA
8. TrypsinIBA
9. Staphylococcal Protein A (A, Protein)IBA
10. Protons (Proton)IBA

Therapies and Procedures

1. Anesthesia