Andermann Syndrome

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Yang, C. Andermann Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4721 (accessed on 26 September 2026).

Yang C. Andermann Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4721. Accessed September 26, 2026.

Yang, Catherine. "Andermann Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4721 (accessed September 26, 2026).

Yang, C. (2020, December 24). Andermann Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4721

Yang, Catherine. "Andermann Syndrome." Encyclopedia. Web. 24 December, 2020.

Andermann Syndrome

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

Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder.

genetic conditions

References

Dupré N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spasticparaparesis and neuropathy in the French-Canadian population. Can J Neurol Sci.2006 May;33(2):149-57. Review.
Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S,Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpuscallosum. Ann Neurol. 2003 Jul;54(1):9-18. Review.
Gauvreau C, Brisson JD, Dupré N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 2 [updated 2020 Sep 17]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1372/
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L,Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, ZhanFQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J,Delpire E, Rouleau GA. The K-Cl cotransporter KCC3 is mutant in a severeperipheral neuropathy associated with agenesis of the corpus callosum. Nat Genet.2002 Nov;32(3):384-92.
Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L,Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R,Lapointe JY, Rouleau GA. Distal truncation of KCC3 in non-French CanadianHMSN/ACC families. Neurology. 2007 Sep 25;69(13):1350-5.
Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Noveltruncating and missense mutations of the KCC3 gene associated with Andermannsyndrome. Neurology. 2006 Apr 11;66(7):1044-8. Erratum in: Neurology. 2006 Oct24;67(8):1528.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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