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:

Pili canaliculi as manifestation of giant axonal neuropathy.
 

Author(s): Hiram Larangeira de Almeida, Gilberto Garcias, Ricardo Marques E Silva, Stela Laner Batista, Fernanda Pasetto

Journal: An Bras Dermatol. ;91(5 suppl 1):125-127.

 

Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old ...

Last Updated: 31 Dec 1969

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Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.
 

Author(s): Eitan Israeli, Dilyan I Dryanovski, Paul T Schumacker, Navdeep S Chandel, Jeffrey D Singer, Jean P Julien, Robert D Goldman, Puneet Opal

Journal: Hum. Mol. Genet.. 2016 Jun;25(11):2143-2157.

 

Intermediate filaments (IFs) are cytoskeletal polymers that extend from the nucleus to the cell membrane, giving cells their shape and form. Abnormal accumulation of IFs is involved in the pathogenesis of number neurodegenerative diseases, but none as clearly as giant axonal neuropathy ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 22 Nov 2017

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