Alexander Disease

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Yang, C. Alexander Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4682 (accessed on 28 September 2026).

Yang C. Alexander Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4682. Accessed September 28, 2026.

Yang, Catherine. "Alexander Disease" Encyclopedia, https://encyclopedia.pub/entry/4682 (accessed September 28, 2026).

Yang, C. (2020, December 24). Alexander Disease. In Encyclopedia. https://encyclopedia.pub/entry/4682

Yang, Catherine. "Alexander Disease." Encyclopedia. Web. 24 December, 2020.

Alexander Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alexander-disease

Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.

genetic conditions

References

Gorospe JR, Maletkovic J. Alexander disease and megalencephalicleukoencephalopathy with subcortical cysts: leukodystrophies arising fromastrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 2006;12(2):113-22.Review.
Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N. Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 2014 Jan 7;82(1):49-56. doi: 10.1212/01.wnl.0000438230.33223.bc.
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, RuyleSZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M. Glialfibrillary acidic protein mutations in infantile, juvenile, and adult forms ofAlexander disease. Ann Neurol. 2005 Mar;57(3):310-26.
Quinlan RA, Brenner M, Goldman JE, Messing A. GFAP and its role in Alexanderdisease. Exp Cell Res. 2007 Jun 10;313(10):2077-87.
Srivastava S, Waldman A, Naidu S. Alexander Disease. 2002 Nov 15 [updated 2020Nov 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1172/
van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A,Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS.Alexander disease: ventricular garlands and abnormalities of the medulla andspinal cord. Neurology. 2006 Feb 28;66(4):494-8.
Zang L, Wang J, Jiang Y, Gu Q, Gao Z, Yang Y, Xiao J, Wu Y. Follow-up study of22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. J Hum Genet. 2013 Apr;58(4):183-8. doi:10.1038/jhg.2012.152.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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