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Yang, C. Canavan Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5141 (accessed on 22 September 2026).
Yang C. Canavan Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5141. Accessed September 22, 2026.
Yang, Catherine. "Canavan Disease" Encyclopedia, https://encyclopedia.pub/entry/5141 (accessed September 22, 2026).
Yang, C. (2020, December 24). Canavan Disease. In Encyclopedia. https://encyclopedia.pub/entry/5141
Yang, Catherine. "Canavan Disease." Encyclopedia. Web. 24 December, 2020.
Canavan Disease
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/canavan-disease

Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.

genetic conditions

References

  1. Baslow MH, Guilfoyle DN. Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.Biochimie. 2013 Apr;95(4):946-56. doi: 10.1016/j.biochi.2012.10.023.
  2. Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL.Canavan disease: carrier-frequency determination in the Ashkenazi Jewishpopulation and development of a novel molecular diagnostic assay. Am J Med Genet A. 2004 Jan 15;124A(2):142-7.
  3. Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E,McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in aCanavan disease model. Ann Neurol. 2015 May;77(5):884-8. doi: 10.1002/ana.24392.
  4. Janson CG, McPhee SW, Francis J, Shera D, Assadi M, Freese A, Hurh P,Haselgrove J, Wang DJ, Bilaniuk L, Leone P. Natural history of Canavan diseaserevealed by proton magnetic resonance spectroscopy (1H-MRS) anddiffusion-weighted MRI. Neuropediatrics. 2006 Aug;37(4):209-21.
  5. Madhavarao CN, Arun P, Moffett JR, Szucs S, Surendran S, Matalon R, Garbern J,Hristova D, Johnson A, Jiang W, Namboodiri MA. Defective N-acetylaspartatecatabolism reduces brain acetate levels and myelin lipid synthesis in Canavan'sdisease. Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5221-6.
  6. Matalon R, Delgado L, Michals-Matalon K. Canavan Disease. 1999 Sep 16 [updated2018 Sep 13]. 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/NBK1234/
  7. Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN. Canavan disease and the role of N-acetylaspartate in myelinsynthesis. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23.Review.
  8. Surendran S, Bamforth FJ, Chan A, Tyring SK, Goodman SI, Matalon R. Mildelevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003 Nov;18(11):809-12.
  9. Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R. Canavan disease: a monogenic trait with complex genomic interaction. Mol GenetMetab. 2003 Sep-Oct;80(1-2):74-80. Review. Erratum in: Mol Genet Metab. 2006Mar;87(3):279.
  10. Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, RollandMO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H. Possiblegenotype-phenotype correlations in children with mild clinical course of Canavan disease. Neuropediatrics. 2005 Aug;36(4):252-5.
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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 : Catherine Yang
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Update Date: 24 Dec 2020
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