Giant Axonal Neuropathy

Common Name(s)

Giant Axonal Neuropathy

Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by {4:Berg et al., 1972}; {16:Igisu et al., 1975}; {9:Carpenter et al., 1974}). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder ({26:Tazir et al., 2009}). Genetic Heterogeneity of Giant Axonal Neuropathy See also GAN2 ({610100}), caused by mutation in the DCAF8 gene ({615820}) on chromosome 1q23.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Giant Axonal Neuropathy" for support, advocacy or research.

Hannah's Hope Fund

The mission of Hannah's Hope Fund is to raise funding for a treatment and cure of Giant Axonal Neuropathy. We have an international team of scientists collaborating on therapy developement for GAN. Our scientists are focused on executing a clinical trial for an effective, safe treatment that impacts lives TODAY, not decades down the road. We hope to begin a GAN gene delivery Phase 1 trial in the Spring of 2013.

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Giant Axonal Neuropathy" for support, advocacy or research.

Hannah's Hope Fund

The mission of Hannah's Hope Fund is to raise funding for a treatment and cure of Giant Axonal Neuropathy. We have an international team of scientists collaborating on therapy developement for GAN. Our scientists are focused on executing a clinical trial for an effective, safe treatment that impacts lives TODAY, not decades down the road. We hope to begin a GAN gene delivery Phase 1 trial in the Spring of 2013.

http://www.hannahshopefund.org

Last Updated: 12 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Giant Axonal Neuropathy" returned 20 free, full-text research articles on human participants. First 3 results:

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.
 

Author(s): Jason Lowery, Nikhil Jain, Edward R Kuczmarski, Saleemulla Mahammad, Anne Goldman, Vladimir I Gelfand, Puneet Opal, Robert D Goldman

Journal: Mol. Biol. Cell. 2016 Feb;27(4):608-16.

 

Giant axonal neuropathy (GAN) is a rare disease caused by mutations in the GAN gene, which encodes gigaxonin, an E3 ligase adapter that targets intermediate filament (IF) proteins for degradation in numerous cell types, including neurons and fibroblasts. The cellular hallmark of GAN ...

Last Updated: 12 Feb 2016

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Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.
 

Author(s): Bethany L Johnson-Kerner, Alejandro Garcia Diaz, Sean Ekins, Hynek Wichterle

Journal:

 

Patients with giant axonal neuropathy (GAN) show progressive loss of motor and sensory function starting in childhood and typically live for less than 30 years. GAN is caused by autosomal recessive mutations leading to low levels of gigaxonin (GIG), a ubiquitously-expressed BTB/Kelch ...

Last Updated: 14 Oct 2015

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Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.
 

Author(s): Bethany L Johnson-Kerner, Faizzan S Ahmad, Alejandro Garcia Diaz, John Palmer Greene, Steven J Gray, Richard Jude Samulski, Wendy K Chung, Rudy Van Coster, Paul Maertens, Scott A Noggle, Christopher E Henderson, Hynek Wichterle

Journal: Hum. Mol. Genet.. 2015 Mar;24(5):1420-31.

 

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, ...

Last Updated: 10 Feb 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Giant Axonal Neuropathy" returned 1 free, full-text review articles on human participants. First 3 results:

Giant axonal neuropathy.
 

Author(s): Neil Gordon

Journal: Dev Med Child Neurol. 2004 Oct;46(10):717-9.

 

Last Updated: 11 Oct 2004

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy
 

Status: Recruiting

Condition Summary: Giant Axonal Neuropathy; Gene Transfer

 

Last Updated: 2 Dec 2016

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