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Xu, C. Giant Axonal Neuropathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/3998 (accessed on 27 September 2026).
Xu C. Giant Axonal Neuropathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/3998. Accessed September 27, 2026.
Xu, Camila. "Giant Axonal Neuropathy" Encyclopedia, https://encyclopedia.pub/entry/3998 (accessed September 27, 2026).
Xu, C. (2020, December 23). Giant Axonal Neuropathy. In Encyclopedia. https://encyclopedia.pub/entry/3998
Xu, Camila. "Giant Axonal Neuropathy." Encyclopedia. Web. 23 December, 2020.
Giant Axonal Neuropathy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy

Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons.

genetic conditions

References

  1. 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 theBTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun. 2014 Apr24;2:47. doi: 10.1186/2051-5960-2-47.
  2. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E,Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. The geneencoding 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.
  3. 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. Review.
  4. Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S. Giant axonaldisease: Report of eight cases. Brain Dev. 2015 Sep;37(8):803-7. doi:10.1016/j.braindev.2014.12.002.
  5. Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H. Kelch Domain ofGigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. PLoS One. 2015 Oct 13;10(10):e0140157. doi:10.1371/journal.pone.0140157.
  6. Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM. Giant axonalneuropathy: An updated perspective on its pathology and pathogenesis. MuscleNerve. 2014 Oct;50(4):467-76. doi: 10.1002/mus.24321. Review.
  7. Kamate M, Ramakrishna S, Kambali S, Mahadevan A. Giant axonal neuropathy: arare inherited neuropathy with simple clinical clues. BMJ Case Rep. 2014 Sep12;2014. pii: bcr2014204481. doi: 10.1136/bcr-2014-204481.
  8. Kuhlenbäumer G, Timmerman V, Bomont P. Giant Axonal Neuropathy. 2003 Jan 9[updated 2014 Oct 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1136/
  9. Mussche S, De Paepe B, Smet J, Devreese K, Lissens W, Rasic VM, Murnane M,Devreese B, Van Coster R. Proteomic analysis in giant axonal neuropathy: newinsights into disease mechanisms. Muscle Nerve. 2012 Aug;46(2):246-56. doi:10.1002/mus.23306.
  10. Neuromuscular Disease Center, Washington University
  11. Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM. The absence ofcurly 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.
  12. 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.
  13. Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-nataland infantile onset. J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi:10.1111/j.1529-8027.2012.00412.x. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 840
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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