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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 (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Also Known As:
Neuropathy, Giant Axonal, Autosomal Recessive; Axonal Neuropathy, Giant; Axonal Neuropathy, Giant (GAN); Neuropathy, Giant Axonal (GAN); Giant Axonal Neuropathy (GAN); Giant Axonal Neuropathy 1; Giant Axonal Neuropathy 1 (GAN1); Neuropathy, Giant Axonal
Networked: 52 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neurodegenerative Diseases (Neurodegenerative Disease)
2. Pressure Ulcer (Bedsore)
3. Ataxia (Dyssynergia)
4. Spinocerebellar Ataxias (Spinocerebellar Ataxia)
5. Polyneuropathies (Polyneuropathy)

Experts

1. Bomont, Pascale: 4 articles (01/2020 - 05/2013)
2. Goldman, Robert D: 4 articles (01/2017 - 01/2013)
3. Gray, Steven J: 3 articles (01/2021 - 02/2013)
4. Opal, Puneet: 3 articles (02/2016 - 01/2013)
5. Johnson-Kerner, Bethany L: 3 articles (03/2015 - 01/2014)
6. Lescouzères, Léa: 2 articles (01/2020 - 12/2019)
7. Boizot, Alexia: 2 articles (12/2019 - 04/2014)
8. Kuczmarski, Edward R: 2 articles (01/2017 - 02/2016)
9. Mahammad, Saleemulla: 2 articles (02/2016 - 05/2013)
10. Van Coster, Rudy: 2 articles (03/2015 - 02/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Giant Axonal Neuropathy:
1. Oxandrolone (Anavar)FDA LinkGeneric
2. Fumaric aciduriaIBA
3. Proteins (Proteins, Gene)FDA Link
4. Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
5. VimentinIBA
6. n-hexaneIBA
7. Neurofilament ProteinsIBA
8. Methyl n-Butyl KetoneIBA
9. Ligases (Synthetase)IBA
10. 2,5-hexanedioneIBA

Therapies and Procedures

1. Therapeutics
01/01/2020 - ": 4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive."
2. Anesthesia