Ataxia-telangiectasia

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1		Catherine Yang	+ 571 word(s)	7115	2020-12-15 07:16:25

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

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.

genetic conditions

References

Biton S, Barzilai A, Shiloh Y. The neurological phenotype ofataxia-telangiectasia: solving a persistent puzzle. DNA Repair (Amst). 2008 Jul1;7(7):1028-38. doi: 10.1016/j.dnarep.2008.03.006.
Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair(Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.
Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survivalprobability in ataxia telangiectasia. Arch Dis Child. 2006 Jul;91(7):610-1.
de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC,Kleibeuker JH, Schaapveld M, de Vries EG. Genes other than BRCA1 and BRCA2involved in breast cancer susceptibility. J Med Genet. 2002 Apr;39(4):225-42.Review.
Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS,Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I,Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K,Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K,de Sá J, Lourenco CM, Varon R. New mutations in the ATM gene and clinical data of25 AT patients. Neurogenetics. 2011 Nov;12(4):273-82. doi:10.1007/s10048-011-0299-0.
Gatti R, Perlman S. Ataxia-Telangiectasia. 1999 Mar 19 [updated 2016 Oct 27]. 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/NBK26468/
Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: geneexpression profiles and sequence variants. Cancer Lett. 2005 Sep28;227(2):105-14.
McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep. 2004 Aug;5(8):772-6.Review.
Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis andtreatment. Semin Pediatr Neurol. 2003 Sep;10(3):173-82. Review.
Taylor AM, Byrd PJ. Molecular pathology of ataxia telangiectasia. J ClinPathol. 2005 Oct;58(10):1009-15. Review.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F,Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA,Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA,Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP,Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM,Taylor MA, van Deuren M, Willemsen MA. Presence of ATM protein and residualkinase activity correlates with the phenotype in ataxia-telangiectasia: agenotype-phenotype study. Hum Mutat. 2012 Mar;33(3):561-71. doi:10.1002/humu.22016.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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