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 13 free, full-text research articles on human participants. First 3 results:

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
 

Author(s): Alexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, Nancy L Kuntz, Cecile Halbert, Brigitte Chabrol, Henry Houlden, Tanya Stojkovic, Brenda A Schulman, Bernd Rautenstrauss, Pascale Bomont

Journal:

 

The BTB-KELCH protein Gigaxonin plays key roles in sustaining neuron survival and cytoskeleton architecture. Indeed, recessive mutations in the Gigaxonin-encoding gene cause Giant Axonal Neuropathy (GAN), a severe neurodegenerative disorder characterized by a wide disorganization ...

Last Updated: 3 Jun 2014

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Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
 

Author(s): Saleemulla Mahammad, S N Prasanna Murthy, Alessandro Didonna, Boris Grin, Eitan Israeli, Rodolphe Perrot, Pascale Bomont, Jean-Pierre Julien, Edward Kuczmarski, Puneet Opal, Robert D Goldman

Journal: J. Clin. Invest.. 2013 May;123(5):1964-75.

 

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. In GAN, aggregates of intermediate filaments (IFs) represent the main pathological feature detected in ...

Last Updated: 2 May 2013

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Application of autologous bone marrow stem cells in giant axonal neuropathy.
 

Author(s): Alok Sharma, Nandini Gokulchandran, Pooja Kulkarni, Guneet Chopra

Journal: Indian J Med Sci. 2010 Jan;64(1):41-4.

 

Giant axonal neuropathy is a rare disorder of autosomal recessive inheritance, morphologically characterized by accumulation of neurofilaments in enlargements of preterminal regions of central and peripheral axons. We present a 7-year-old girl with thick and tightly curled lackluster ...

Last Updated: 3 Feb 2012

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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 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.