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Atlas of Genetic Diagnosis and Counseling pp 167–173Cite as

Ataxia-Telangiectasia

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Ataxia-telangiectasia (A-T) is a rare hereditary disorder characterized by progressive cerebellar ataxia, conjunctival telangiectasias, recurrent sinopulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.

Synonyms and Related Disorders

Louis–Bar syndrome

Genetics/Basic Defects

  1. 1.

    Inheritance

    1. a.

      Autosomal recessive

    2. b.

      Genetic heterogeneity in at least five complementation groups (A–E)

  2. 2.

    Cause

    1. a.

      Mutations in the ataxia-telangiectasia mutated gene (ATM) which is mapped to 11q22.3

    2. b.

      Affected individuals completely lack functional ATM protein

    3. c.

      A high prevalence of specific ATM mutations in certain ethnic groups (Amish, Mennonite, Costa Rican, Polish, British, Italian, Turkish, Iranian, Israeli) with a founder effect, resulting in a small number of mutations that accounts for the majority of disease-causing mutant alleles

      ...

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References

  • Anmann, A. J., Cain, W. A., Ishizaka, K., et al. (1969). Immunoglobulin deficiency in ataxia-telangiectasia. The New England Journal of Medicine, 281, 469–472.

    Article  Google Scholar 

  • Chessa, L., Piane, M., Prudente, S., et al. (1999). Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays. Prenatal Diagnosis, 19, 542–545.

    Article  PubMed  CAS  Google Scholar 

  • Chun, H. H., & Gatti, R. A. (2004). Ataxia-telangiectasia, an evolving phenotype (Review). DNA Repair, 3, 1187–1196.

    Article  PubMed  CAS  Google Scholar 

  • Concannon, P., & Gatti, R. A. (1997). Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Human Mutation, 10, 100–107.

    Article  PubMed  CAS  Google Scholar 

  • Dahi, A. A., Calonje, D., & El-Harazi, S. M. (2010). Ataxia-telangiectasia. eMedicine from WebMD. Updated May 7, 2010. Available at: http://emedicine.medscape.com/article/1219140-overview

  • Frappart, F.-O., & McKinnon, P. J. (2006). Ataxia-telangiectasia and related diseases. Neuromolecular Medicine, 8, 495–511.

    Article  PubMed  CAS  Google Scholar 

  • Gatti, R. A. (1997). Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Human Mutation, 10, 100–107.

    Article  PubMed  Google Scholar 

  • Gatti, R. A. (2010). Ataxia-telangiectasia. GeneReviews. Updated March 11, 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK26468/

  • Gatti, R. A., Boder, E., Vinters, H., et al. (1991). Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis. Medicine, 70, 99–117.

    Article  PubMed  CAS  Google Scholar 

  • Gatti, R. A., & Perlman, S. (2009). A proposed bailout for A-T patients? European Journal of Neurology, 16, 653–655.

    Article  PubMed  Google Scholar 

  • Huo, Y. K., Wang, Z., Hong, J. H., et al. (1994). Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Research, 54, 2544–2547.

    PubMed  CAS  Google Scholar 

  • Lavin, M. R. (2008). Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer. Nature Reviews Molecular Cell Biology, 9, 759–769.

    Article  PubMed  CAS  Google Scholar 

  • Mavrou, A., Tsangaris, G. H., Roma, E., et al. (2008). The ATM gene and ataxia telangiectasia. Anticancer Research, 28, 401–406.

    PubMed  CAS  Google Scholar 

  • Metcalfe, J. A., Parkhill, J., Campbell, L., et al. (1996). Accelerated telomere shortening in ataxia telangiectasia. Nature Genetics, 13, 350–353.

    Article  PubMed  CAS  Google Scholar 

  • Meyn, M. S. (1999). Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Clinical Genetics, 55, 289–304.

    Article  PubMed  CAS  Google Scholar 

  • Nowak-Wegrzyn, A., Crawford, T. O., Winkelstein, J. A., et al. (2004). Immunodeficiency and infections in ataxia-telangiectasia. Journal of Pediatrics, 144, 505–511.

    Article  PubMed  Google Scholar 

  • Perlman, S., Becker-Catania, S., & Gatti, R. A. (2003). Ataxia-telangiectasia: Diagnosis and treatment. Seminars in Pediatric Neurology, 10, 173–182.

    Article  PubMed  Google Scholar 

  • Petersen, R. D., Kelly, W. D., & Good, R. A. (1964). Ataxia-telangiectasia: Its association with a defective thymus, immunological-deficiency disease and malignancy. Lancet, 1, 1189–1193.

    Article  Google Scholar 

  • Polubotko, E. A., Smirnova, N. V., Pleskach, N. M., et al. (2009). Premature aging syndrome in ataxia telangiectasia patients. Cell and Tissue Biology, 3, 491–496.

    Article  Google Scholar 

  • Regueiro, J. R., Porras, O., Lavin, M., et al. (2000). Ataxia-telangiectasia. A primary immunodeficiency revisited. Immunology and Allergy Clinics of North America, 20(1), 177–206.

    Article  Google Scholar 

  • Sanal, O., Ersoy, F., Yel, L., et al. (1999). Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia–telangiectasia. Journal of Clinical Immunology, 19, 326–334.

    Article  PubMed  CAS  Google Scholar 

  • Spacey, S. D., Gatti, R. A., & Bebb, G. (2000). The molecular basis and clinical management of ataxia telangiectasia. Canadian Journal of Neurological Sciences, 27, 184–191.

    PubMed  CAS  Google Scholar 

  • Sparkes, R. S., Como, R., & Golde, D. W. (1980). Cytogenetic abnormalities in ataxia telangiectasia with T-cell chronic lymphocytic leukemia. Cancer Genetics and Cytogenetics, 1, 329–336.

    Article  Google Scholar 

  • Sun, X., Becker-Catania, S. G., Chun, H. H., et al. (2002). Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. Journal of Pediatrics, 140, 724–731.

    Article  PubMed  Google Scholar 

  • Swift, M., Morrell, D., Cromartie, E., et al. (1986). The incidence and gene frequency of ataxia-telangiectasia in the United States. American Journal of Human Genetics, 39, 573–583.

    PubMed  CAS  Google Scholar 

  • Swift, M., Morrell, D., Massey, R. B., et al. (1991). Incidence of cancer in 161 families affected by ataxia-telangiectasia. The New England Journal of Medicine, 325, 1831–1836.

    Article  PubMed  CAS  Google Scholar 

  • Swift, M., Reitnauer, P. J., Morrell, D., et al. (1987). Breast and other cancers in families with ataxia-telangiectasia. The New England Journal of Medicine, 316, 1289–1294.

    Article  PubMed  CAS  Google Scholar 

  • Tangsinmankong, N., Wayne, A. S., Howenstine, M. S., et al. (2001). Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. Journal of Pediatrics, 138, 939–941.

    Article  PubMed  CAS  Google Scholar 

  • Taylor, A. M. R., & Byrd, P. J. (2005). Molecular pathology of ataxia telangiectasia. Journal of Clinical Pathology, 58, 1009–1015.

    Article  PubMed  CAS  Google Scholar 

  • Taylor, A. M., Metcalfe, A. J. A., Thick, J., et al. (1996). Leukemia and lymphoma in ataxia telangiectasia. Blood, 87, 423–438.

    PubMed  CAS  Google Scholar 

  • Taylor, M., Teraoka, S., Wang, Z., et al. (1998). Ataxia-telangiectasia: Identification and detection of founder-effect mutations in the ATM gene in ethnic populations. American Journal of Human Genetics, 62, 86–97.

    Article  Google Scholar 

  • Woods, C. G., & Taylor, A. M. R. (1992). Ataxia-telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals. Quarterly Journal of Medicine, 82, 169–179.

    PubMed  CAS  Google Scholar 

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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© 2012 Springer Science+Business Media, LLC

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(2012). Ataxia-Telangiectasia. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_18

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