Infantile Neuroaxonal Dystrophy

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Xu, C. Infantile Neuroaxonal Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4225 (accessed on 26 September 2026).

Xu C. Infantile Neuroaxonal Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4225. Accessed September 26, 2026.

Xu, Camila. "Infantile Neuroaxonal Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4225 (accessed September 26, 2026).

Xu, C. (2020, December 23). Infantile Neuroaxonal Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4225

Xu, Camila. "Infantile Neuroaxonal Dystrophy." Encyclopedia. Web. 23 December, 2020.

Infantile Neuroaxonal Dystrophy

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/infantile-neuroaxonal-dystrophy

Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.

genetic conditions

References

Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. Catalytic function ofPLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophybut not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi:10.1371/journal.pone.0012897.
Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes topathogenesis. Semin Pediatr Neurol. 2006 Sep;13(3):182-5. Review.
Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R,Galil A, Elbedour K, Birk OS. PLA2G6 mutation underlies infantile neuroaxonaldystrophy. Am J Hum Genet. 2006 Nov;79(5):942-8.
Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG,Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER.Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 2008 Apr 29;70(18):1623-9. doi:10.1212/01.wnl.0000310986.48286.8e.
McNeill A, Chinnery PF. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. Review.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H,Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I,Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, LevinsonB, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. PLA2G6,encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006 Jul;38(7):752-4.Genet. 2006 Aug;38(8):957.
Polster B, Crosier M, Lindsay S, Hayflick S. Expression of PLA2G6 in humanfetal development: Implications for infantile neuroaxonal dystrophy. Brain ResBull. 2010 Nov 20;83(6):374-9. doi: 10.1016/j.brainresbull.2010.08.011.
Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brainiron accumulation (NBIA): an update on clinical presentations, histological andgenetic underpinnings, and treatment considerations. Mov Disord. 2012Jan;27(1):42-53. doi: 10.1002/mds.23971.
Wu Y, Jiang Y, Gao Z, Wang J, Yuan Y, Xiong H, Chang X, Bao X, Zhang Y, XiaoJ, Wu X. Clinical study and PLA2G6 mutation screening analysis in Chinesepatients with infantile neuroaxonal dystrophy. Eur J Neurol. 2009Feb;16(2):240-5. doi: 10.1111/j.1468-1331.2008.02397.x.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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