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:

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)

Experts

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 06/01/2010 - "A case of pressure ulcer in a 25-year-old male patient with the neurodegenerative disorder giant axonal neuropathy (GAN) was safely and effectively treated with an eight-week regimen of oxandrolone and nutritional supplementation. "
2.	VimentinIBA 07/01/2009 - "Chemical disruption of the vimentin network with acrylamide, intermediate filament bundling in cells from a patient with giant axonal neuropathy, and absence of vimentin in fibroblasts from vimentin(-/-) mice severely reduced entry of either strain. " 01/01/1996 - "Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy." 02/01/1990 - "Giant axonal neuropathy (GAN) is a disorder characterized pathologically by distal neurofilament-filled bulbous swellings in axons, and widespread collection of intermediate filaments, including masses of vimentin filaments in cultured skin fibroblasts. " 11/01/1984 - "Giant axonal neuropathy skin fibroblasts, which are characterized by a selective and partial disorganization of vimentin filaments [1] exhibited, when compared with normal skin fibroblasts, less fibrin clot retractile (FCR) activity and spreading within the fibrin clot both during active growth and resting stage. "
3.	n-hexaneIBA 11/01/1998 - "The present results suggest that high doses of n-hexane cause a diffuse IF disorder in a similar form as occurs in giant axonal neuropathy. " 10/01/1976 - "These morphologic features are identical to those produced in experimental animals after exposure to these chemicals and are similar to those found in n-hexane neuropathy and in the three reported cases of giant axonal neuropathy. " 11/01/1983 - "Axonal swellings associated with large aggregates of neurofilaments are characteristic of neuropathies caused by chemical neurotoxins (n-hexane, methyl n-butyl ketone, and acrylamide) or giant axonal neuropathy (GAN--an autosomal recessive genetic disease). "
4.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 05/01/2013 - "Giant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. " 01/01/2013 - "Giant axonal neuropathy (GAN)(1) is a rare autosomal recessive neurological disorder caused by mutations in the GAN gene that encodes gigaxonin, a member of the BTB/Kelch family of E3 ligase adaptor proteins.(1) This disease is characterized by the aggregation of Intermediate Filaments (IF)-cytoskeletal elements that play important roles in cell physiology including the regulation of cell shape, motility, mechanics and intra-cellular signaling. "
5.	2,5-hexanedioneIBA 06/01/1993 - "The neuropathy produced by the hexacarbon 2,5-hexanedione (2,5-HD) resembles human and canine inherited giant axonal neuropathy (GAN) in the presence of giant axonal swellings that contain accumulations of neurofilaments. " 02/01/1985 - "The 2,5-hexanedione axon may provide insight into the pathogenesis of inherited and acquired giant axonal neuropathies and offers a model to investigate the relationship between number of NF and axonal size in central axons." 02/01/1985 - "Slow axonal transport was studied in the optic systems of rats treated with 2,5-hexanedione, a toxic compound that produces an experimental model of giant axonal neuropathy. "
6.	UbiquitinIBA 03/01/1989 - "The ubiquitin-containing inclusions were the Rosenthal fibers, Mallory bodies, Crooke bodies, Lafora bodies, amyloid bodies, and the giant axons of giant axonal neuropathy. "
7.	Neurofilament ProteinsIBA 06/01/2015 - "Disruption of neurofilament organization and expression or metabolism of neurofilament proteins is characteristic of certain neurological syndromes including Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth sensorimotor neuropathies and Giant Axonal Neuropathy. "
8.	TrypsinIBA 01/01/1987 - "Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin."
9.	Staphylococcal Protein A (A, Protein)IBA 04/01/2009 - "Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal functions and dynamics. "
10.	Protons (Proton)IBA 01/01/2003 - "Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy."

Therapies and Procedures

1.	Anesthesia 02/01/2007 - "Anesthesia for a child with giant axonal neuropathy."