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<span>Giant axonal neuropathy</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy/</span>
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<article>
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<a name="start" id="start"></a>
<h1>Giant axonal neuropathy</h1>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional <a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by the myelin sheath. At the end of the axon are axon terminals." data-caption="" data-credit="Pawel Graczyk/Shutterstock.com" data-filepath="images/PX0000TS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000TS" data-sourceurl="" data-title="Parts of a neuron" href="https://medlineplus.gov/images/PX0000TS_PRESENTATION.jpeg" id="PX0000TS_1" title="Show image">axons<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> called giant axons. Axons are specialized extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of the disorder first become apparent in the peripheral nervous system, in which long axons connect the brain and spinal cord (central nervous system) to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. However, axons in the central nervous system are affected as well.</p><p>The signs and symptoms of giant axonal neuropathy generally begin in early childhood and get worse over time. Most affected individuals first have problems with walking. Later they may lose sensation, strength, and reflexes in their limbs; experience difficulty coordinating movements (ataxia); and require wheelchair assistance. Many affected individuals have an abnormal curvature of the spine (scoliosis). Visual and hearing problems may also occur. Many individuals with this condition have extremely kinky hair as compared to others in their family.</p><p>Giant axonal neuropathy can also impact the autonomic nervous system, which controls involuntary body processes. Affected individuals may experience problems with constipation, heat intolerance, and the release of urine (neurogenic bladder), and a reduction in or loss of the ability to sweat.</p><p>As the disorder worsens, paralysis, seizures, difficulty breathing or swallowing, and a gradual decline in mental function (dementia) can also occur. Most people with giant axonal neuropathy do not survive past their twenties.</p><p>Some affected individuals have a milder form of giant axonal neuropathy that begins later in life. Movement problems in these individuals are less severe, and the signs and symptoms usually worsen at a slower rate than in the classic form of the condition. Individuals with the milder form often have straight hair, and they may survive into adulthood.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Giant axonal neuropathy is a very rare disorder; only about 50 affected families have been described in the medical literature. The condition is thought to be underdiagnosed because its early symptoms resemble those of other, more common disorders affecting the peripheral nervous system, such as <a data-pid="14485" href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a>.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Giant axonal neuropathy is caused by mutations in the <i><a data-pid="17439" href="https://medlineplus.gov/genetics/gene/gan/">GAN</a></i> gene, which provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a process that identifies and gets rid of excess or damaged proteins within cells. In particular, gigaxonin plays a role in the breakdown of neurofilaments, which comprise the structural framework that establishes the size and shape of axons.</p><p>The <i>GAN</i> gene mutations that have been identified in people with giant axonal neuropathy result in an unstable gigaxonin protein that breaks down more easily than normal, resulting in much less gigaxonin in cells. In neurons without enough functional gigaxonin, neurofilaments that would otherwise have been broken down by the ubiquitin-proteasome system accumulate. The neurofilaments become densely packed in the giant axons of people with giant axonal neuropathy. These giant axons do not transmit signals properly and eventually deteriorate, resulting in the death of neurons. The loss of nerve cells leads to problems with walking and sensation in people with giant axonal neuropathy.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Giant axonal neuropathy</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/gan/">GAN</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>GAN</li> <li>Giant axonal disease</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1850386/" target="TheNewWin">Genetic Testing Registry: Giant axonal neuropathy 1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/6500/index" target="TheNewWin">Giant axonal neuropathy</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Giant axonal neuropathy%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/256850" target="TheNewWin">GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28giant+axonal+neuropathy%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+2520+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H,
Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P. The instability of the
BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new
penetrant and specific diagnostic test. Acta Neuropathol Commun. 2014 Apr
24;2:47. doi: 10.1186/2051-5960-2-47. <a href="https://pubmed.ncbi.nlm.nih.gov/24758703" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234992/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E,
Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M. The gene
encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is
mutated in giant axonal neuropathy. Nat Genet. 2000 Nov;26(3):370-4. doi:
10.1038/81701. <a href="https://pubmed.ncbi.nlm.nih.gov/11062483" target="TheNewWin">Citation on PubMed</a></li>
<li>Hentati F, Hentati E, Amouri R. Giant axonal neuropathy. Handb Clin Neurol.
2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. <a href="https://pubmed.ncbi.nlm.nih.gov/23931822" target="TheNewWin">Citation on PubMed</a></li>
<li>Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S. Giant axonal
disease: Report of eight cases. Brain Dev. 2015 Sep;37(8):803-7. doi:
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<li>Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H. Kelch Domain of
Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal
Neuropathy. PLoS One. 2015 Oct 13;10(10):e0140157. doi:
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<li>Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM. Giant axonal
neuropathy: An updated perspective on its pathology and pathogenesis. Muscle
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<li>Kamate M, Ramakrishna S, Kambali S, Mahadevan A. Giant axonal neuropathy: a
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<li>Mussche S, De Paepe B, Smet J, Devreese K, Lissens W, Rasic VM, Murnane M,
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<li><a href="https://neuromuscular.wustl.edu/time/child.html#gan" target="TheNewWin">Neuromuscular Disease Center, Washington University</a></li>
<li>Opal P. GAN-Related Neurodegeneration. 2003 Jan 9 [updated 2021 Oct
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<a href="https://pubmed.ncbi.nlm.nih.gov/20301315" target="TheNewWin">Citation on PubMed</a></li>
<li>Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM. The absence of
curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
Neuromuscul Disord. 2014 Jan;24(1):48-55. doi: 10.1016/j.nmd.2013.06.007. Epub
2013 Jul 24. <a href="https://pubmed.ncbi.nlm.nih.gov/23890932" target="TheNewWin">Citation on PubMed</a></li>
<li>Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N, Nagappa
M, Sinha S. Giant axonal neuropathy. J Child Neurol. 2015 Jun;30(7):912-5. doi:
10.1177/0883073814547721. Epub 2014 Sep 11. <a href="https://pubmed.ncbi.nlm.nih.gov/25213662" target="TheNewWin">Citation on PubMed</a></li>
<li>Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal
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