Skip to main content
Log in

The pathogenesis of ataxia-telangiectasia

Learning from a rosetta stone

  • Published:
Clinical Reviews in Allergy & Immunology Aims and scope Submit manuscript

Conclusion

Many issues in A-T research remain unresolved. However, certain common denominators are becoming clear that were not obvious just a few years ago, i.e., the relationship between double-strand break rejoining, radiosensitivity, and immunodeficiency. The downstream pathways that are activated by ATM phosphorylating p53, c-abl, chk2, Brca1, nibrin, RPA, and other proteins that contribute to cell-cycles checkpoints and DNA repair complexes, are helping to understand the cancer susceptibility of A-T patients, and perhaps of A-T heterozygotes. The identification and categorization of mutations in the ATM, NBS and Mre11 genes now allow more definitive diagnoses. Developmental studies are rapidly identifying early sites of pathogenesis that can perhaps be targeted for neural stem cell implantation therapy. If over-whelmed oxidative stress responses underlie the neurological degeneration of A-T patients, maintaining adequate therapeutic levels of free-radical scavengers, such as Vitamin E, alpha-lipoic acid, aspirin, and Coenzyme Q10, may be of some therapeutic benefit.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Gatti, R. A. (2001), in Metabolic and Molecular Basis of Human Disease, 8th ed., Scriver, C. R., Beaudet, A., Sly, W. S., Valle, D., eds. McGraw-Hill, NY (in press).

    Google Scholar 

  2. Gatti, R. A. (2001) Acta Oncologica, in press.

  3. Syllaba, X. and Henner, A. A. (1926), Rev. Neurol. 1, 541–562.

    Google Scholar 

  4. Boder, E. and Sedgwick, R. P. (1958), Pediatrics 21, 526–554.

    PubMed  CAS  Google Scholar 

  5. Boder, E. and Sedgwick, R. P. (1963), in Little Club Clinics in Developmental Medicine, No. 8, Walsh, G., ed., Heinemann Medical Books, London, pp 110–118.

    Google Scholar 

  6. Gatti, R. A. and Good, R. A. (1971), Cancer 28, 89–98.

    Article  PubMed  CAS  Google Scholar 

  7. Peterson, R. D. A., Kelly, W. D., and Good, R. A. (1964), Lancet 1, 1189.

    Article  PubMed  CAS  Google Scholar 

  8. Gotoff, S. P., Amirmokri, E., and Liebner, E. J. (1967), Am. J. Dis. Child. 114, 617–625.

    PubMed  CAS  Google Scholar 

  9. Taylor, A. M. R., Harnden, D. G., Arlett, C. F., Harcourt, S. A., Lehmann, A. R., Stevens, S., et al. (1975), Nature 258, 427–429.

    Article  PubMed  CAS  Google Scholar 

  10. Waldmann, T. A. and McIntire, K. R. (1972), Lancet 2, 112–115.

    Google Scholar 

  11. Hecht, F., Koler, R. D., Rigas, D. A., Dahnke, G., Case, M., Tisdale, V., et al. (1966), Lancet 2, 1193.

    Article  Google Scholar 

  12. Aurias, A., Dutrillaux, B., Buriot, D., and Lejeune, J. (1980), Mutat. Res. 69, 369–374.

    PubMed  CAS  Google Scholar 

  13. Gatti, R. A., Aurias, A., Griscelli, C., and Sparkes, R. S. (1985), Dis. Markers 3, 169–175.

    Google Scholar 

  14. Kojis, T. L., Schreck, R. R., Gatti, R. A., and Sparkes, R. S. (1989), Hum. Genet. 83, 337–353.

    Article  Google Scholar 

  15. Taylor, A. M. R., Metcalfe, J. A., Thick, J., and Mak, Y-F. (1996), Blood 87, 423–438.

    PubMed  CAS  Google Scholar 

  16. Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C., Van Munster, P. J. J., Bakkeren, J. A. J. M., and Taalman, R. D. F. M. (1981), Acta Paediatr. Scand. 70, 557–562.

    PubMed  CAS  Google Scholar 

  17. Chrzanowska, K. H., Kleijer, W. J., Krajewska-Walasek, M., Bialecka, M., Gutkowska, A., Goryluk-Kozakiewicz, B., et al. (1995), Am. J. Med. Genet. 57, 462–471.

    Article  PubMed  CAS  Google Scholar 

  18. Wegner, R. D., Metzger, M., Hanefeld, N. G., Jaspers, J., Baan, C., Magdorf, K., et al. (1988), Clin. Genet. 33, 20–32.

    PubMed  CAS  Google Scholar 

  19. Gatti, R. A., Berkel, I., Boder, E., Braedt, G., Charmley, P., Concannon, P. et al. (1988), Nature 336, 577–580.

    Article  PubMed  CAS  Google Scholar 

  20. Stumm, M., Seemanova, E., Gatti, R. A., Sperling, K., Reis, A., Wegner, R. D., et al. (1995), Am. J. Hum. Genet. 57, 960–962.

    PubMed  CAS  Google Scholar 

  21. Saar, K., Chrzanowska, K. H., Stumm, M., Jung, M., Nurnberg, G., Wienker, T. F., et al. (1997), Am. J. Hum. Genet. 60, 605–610.

    PubMed  CAS  Google Scholar 

  22. Cerosaletti, K. M., Lange, E., Stringham, H. M., Weemaes, C. M. R., Smeets, D., Solder, B., et al. (1998), Am. J. Hum. Genet. 63, 125–134.

    Article  PubMed  CAS  Google Scholar 

  23. Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K. M., Chrzanowska, K. H., Saar, K., et al. (1998), Cell. 93, 467–476.

    Article  PubMed  CAS  Google Scholar 

  24. Naito, T., Matsuura, A., Ishikawa, F. (1998), Nature Genet. 20, 203–206.

    Article  PubMed  CAS  Google Scholar 

  25. Hiel, J. A. (2000), Arch. Dis. Childhood 82, 400–406.

    Article  Google Scholar 

  26. Curry, C. J. R., O'Lague, P., Tsai, J., Hutchinson, H. T., Jaspers, N. G. J., Wara, D., et al. (1989), Am. J. Hum. Genet. 45, 270–275.

    PubMed  CAS  Google Scholar 

  27. Gilad, S., Chessa, L., Khosravi, R., Russel, P., Galanty, Y., Piane, M., et al. (1998), Am. J. Hum. Genet. 62, 551–561.

    Article  PubMed  CAS  Google Scholar 

  28. Zhao, S., Weng, Y-C., Yuan, S-S. F., Lin, Y-T., Hsu, H-C. H., Lin, S-C. J. et al. (2000), Nature 405, 473–476.

    Article  PubMed  CAS  Google Scholar 

  29. Kim, S. T., Lim, D. S., and Kastan, M. B. (1999), J. Biol. Chem. 274, 37,538–37,543.

    CAS  Google Scholar 

  30. Gatei, M., Young, D., Cerosaletti, K. M., Desai-Mehta, A., Kozlov, S., Lavin, M. F., et al. (2000), Nature Genet. 25, 115–119.

    Article  PubMed  CAS  Google Scholar 

  31. Hendrickson, E. A. (1997), Am. J. Hum. Genet. 61, 795–800.

    PubMed  CAS  Google Scholar 

  32. Carney, J. P., Maser, R. S., Olivares, H., Davis, E. M., Le Beau, M., and Yates, J. R. (1998), Cell 93, 477–486.

    Article  PubMed  CAS  Google Scholar 

  33. Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D. A., Kaplan, M. I., and Jaspers, N. G. J. (1999), Cell 99, 577–587.

    Article  PubMed  CAS  Google Scholar 

  34. McConville, C. M., Stankovic, T., Byrd, P. J., McGuire, G. M., Yao, Q. Y., Lennox, G., et al. (1996), Am. J. Hum. Genet. 59, 320–330.

    PubMed  CAS  Google Scholar 

  35. Thieffry, S., Arthuis, M., Aicardi, J., and Lyon, G. (1961), Rev. Neurol. 105, 390–405.

    PubMed  CAS  Google Scholar 

  36. Ammann, A. J., Cain, W. A., Ishizaka, K., Hong, R., and Good, R. A. (1969), N. Engl. J. Med. 281, 469–474.

    PubMed  CAS  Google Scholar 

  37. Oxelius, V-A., Berkel, A. I., and Hanson, L. A. (1982), N. Engl. J. Med. 306, 515–520.

    PubMed  CAS  Google Scholar 

  38. Rivat-Peran, L., Buriot, D., Salier, J. P., Rivat, C., Dumitresco, S. M., and Griscelli, C. (1981), Clin. Immunol. Immunopath. 20, 99–110.

    Article  CAS  Google Scholar 

  39. Gatti, R. A., Bick, M. B., Tam, C. F., Medici, M. A., Oxelius, V. A., Holland, M., et al. (1982), Clin. Immunol. Immunopath. 23, 501–516.

    Article  CAS  Google Scholar 

  40. Sanal, O., Smeets, D., Aksoy, Y., Berkel, A. I., Ersoy, F., Gariboglu, S., et al. J. International Workshop on Ataxia-Telangiectasia. Clermont-Ferrond, France, November 22–24. Abstract 47.

  41. Zielen, S., Schubert, R., Schindler, D., and Buehring, I. (1997), 1997. International Workshop on Ataxia-Telangiectasia. Clermont-Ferrand, France, November 22–24, Abstract #41.

  42. Pump, K. K., Dunn, H. G., and Meuwissen, H. (1965), Dis. Chest. 47, 473–486.

    PubMed  CAS  Google Scholar 

  43. Clarke, R. A., Kairouz, R., Watters, D., Lavin, M. F., Kearsley, J. H., Lee, C. S. (1998), Mol Pathol 51, 224–226.

    PubMed  CAS  Google Scholar 

  44. Yarchoan, R., Kurman, C. C., and Nelson, D. L. (1985), in Ataxia-telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, Gatti, R. A., and Swift, M., eds., Alan R. Liss, New York, pp. 315–329.

    Google Scholar 

  45. Regueiro, J. R., Porras, O., Lavin, M., Gatti, R. A. (2000), Immunol. Allergy Clin. N. Am. 20, 177–206.

    Article  Google Scholar 

  46. Paganelli, R., Scala, E., Scarselli, E., Ortolani, C., Cossarizza, A., Carmini, D., et al. (1992), J. Clin. Immunol. 12, 84–91.

    Article  PubMed  CAS  Google Scholar 

  47. Amromin, G. D., Boder, E., and Teplitz, R. (1979), J. Neuropath. Exp. Neurol. 38, 621–643.

    Article  PubMed  CAS  Google Scholar 

  48. Gatti, R. A. (1983), in Immunoregulation, Fabris, N., Garaci, E., Hadden, J., and Mitchison, N. A., eds., Plenum, New York, pp. 385–398.

    Google Scholar 

  49. Hsieh, C-L. and Lieber, M. R. (1993) in Ataxia-Telangiectasia, Gatti, R. A. and Painter, R. B., eds., Springer-Verlag, Heidelberg, pp. 143–154.

    Google Scholar 

  50. Lim, D-S., Kirsch, D. G., Canman, C. E., Ahn, J-H., Ziv, Y., Newman, L. S., et al. (1998), Proc. Natl. Acad. Sci. USA 95, 10,146–10,151.

    CAS  Google Scholar 

  51. Rivero-Carmena, M. E., Porras, O., Pelaez, B., Pacheco-Castro, A., Gatti, R. A., Regueiro, J. R. (2000), Int. Immunol. 12, 927–935.

    Article  PubMed  CAS  Google Scholar 

  52. Becker-Catania, S., Iyer, S., Kornblum, H. I., Gatti, R. A., Submitted.

  53. Oka, A. and Takashima, S. (1998), Neuroscience Lett. 252, 195–198.

    Article  CAS  Google Scholar 

  54. Soares, H. D., Morgan, J. I., and McKinnon, P. J. (1998), Neuroscience 86, 1045–1054.

    Article  PubMed  CAS  Google Scholar 

  55. Chen, G. and Lee EY-HP. (1996), J. Biol. Chem. 271, 33,693–33,697.

    CAS  Google Scholar 

  56. Savitsky, K., Sfez, S., Tagle, D. A., Ziv, Y., Sartiel, A., Collins, F. S., et al. (1995), Hum. Mol. Genet. 4, 2025–2032.

    Article  PubMed  CAS  Google Scholar 

  57. Zakian, V. A. (1995), Cell 82, 685–687.

    Article  PubMed  CAS  Google Scholar 

  58. Lavin, M. F., Khanna, K. K., Beamish, H., Spring, K., Watters, D., and Shiloh, Y. (1995), Trends Biol. Sci. 20, 382, 383.

    Article  CAS  Google Scholar 

  59. Keegan, K. S., Holtzman, D. A., Plug, A. W., Christenson, E. R., Brainerd, E. E., Flaggs, G., et al. (1996), Genes Dev. 10, 2423–2437.

    Article  PubMed  CAS  Google Scholar 

  60. Rotman, G. and Shiloh, Y. (1999), Oncogene 18, 6135–6144.

    Article  PubMed  CAS  Google Scholar 

  61. Spacey, S. D., Gatti, R. A., and Bebb, G. (2000), Can. J. Neurol. Sci. 27, 184–191.

    PubMed  CAS  Google Scholar 

  62. Banin, S., Moyal, L., Shieh, S-Y., Taya, Y., Anderson, C. W., Chessa, L., et al. (1998), Science 281, 1675–1677.

    Article  Google Scholar 

  63. Canman, C. E., Lim, D-S., Cimprich, K. A., Taya, Y., Tamai, K., Sakaguchi, K., et al. (1998), Science 281, 1677–1679.

    Article  PubMed  CAS  Google Scholar 

  64. Khanna, K. K., Keating, K. E., Kozlov, S., Scott, S., Gatei, M., Hobson, K., et al. (1998), Nature Genet. 20, 398–400.

    Article  PubMed  CAS  Google Scholar 

  65. Barlow, C., Hirotsune, S., Paylor, R., Liyanage, M., Eckhaus, M., Collins, F., et al. (1996), Cell 86, 159–171.

    Article  PubMed  CAS  Google Scholar 

  66. Boder, E. (1985), in Ataxia-telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, Gatti, R. A. and Swift, M., eds., Alan R. Liss, New York, pp. 1–63.

    Google Scholar 

  67. Vinters, H. V., Gatti, R. A., and Rakic, P. (1985), in Ataxia-telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, Gatti, R. A. and Swift, M., eds., Alan R. Liss, New York, pp. 233–255.

    Google Scholar 

  68. Gatti, R. A. and Vinters, H. V. (1985), in Ataxia-telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, Gatti, R. A. and Swift, M., eds., Alan R. Liss, New York, pp. 225–232.

    Google Scholar 

  69. Westphal, C. H., Hoyes, K. P., Canman, C. E., Huang, X., Kastan, M. B., Hendry, J. H., et al. (1998), Cancer Res. 58, 5637–5639.

    PubMed  CAS  Google Scholar 

  70. Meyn, M. S. (1995), Cancer Res. 55, 5991–6001.

    PubMed  CAS  Google Scholar 

  71. Walpita, D., Plug, A. W., Neff, N. F., German, J., Ashley, T. (1999), Proc. Natl. Acad. Sci. USA 96, 5622–5627.

    Article  PubMed  CAS  Google Scholar 

  72. Xu, Y., Ashley, T., Brainerd, E. E., Bronson, R. T., Meyn, M. S., Baltimore, D. (1996), Genes Dev. 10, 2411–2422.

    Article  PubMed  CAS  Google Scholar 

  73. Chrzanowsak, K. H., Krajewska-Walasek, M., Bialecka, M., Bernatowska, E., Kostyk, E., Midro, A. T. et al. (1998), Dis. Markers 14, 31, 32.

    Google Scholar 

  74. Helms, B. E., Maser, R. S., MacKay, J. F., Lagally, M. G., and Petrini, J. H. (1998), Science 280, 590–592.

    Article  Google Scholar 

  75. Meredith, M. J. and Dodson, M. L. (1987), Cancer Res. 47, 4576–4581.

    PubMed  CAS  Google Scholar 

  76. Rotman, G. and Shiloh, S. (1997), BioEssays 19, 911–917.

    Article  PubMed  CAS  Google Scholar 

  77. Lavin, M. (1998), Radiother. Oncol. 47, 113–123.

    Article  PubMed  CAS  Google Scholar 

  78. Reichenback, J., Schubert, R., Schwan, C., Muller, K., Bohles, H. J., Zielen, S. (1999), Clin. Exp. Immunol. 117, 535–539.

    Article  Google Scholar 

  79. Barlow, C., Dennery, P. A., Shigenaga, M. K., Smith, M. A., Morrow, J. D., Roberts, L. J., et al. (1999), Proc. Natl. Acad. Sci. USA 96, 9915–9919.

    Article  PubMed  CAS  Google Scholar 

  80. Herzog, K-H., Chong, M. J., Kapsetaki, M., Morgan, J. I., McKinnon, P. J. (1998), Science 280, 1089–1091.

    Article  PubMed  CAS  Google Scholar 

  81. Watters, D., Kedar, P., Spring, K., Bjorkman, J., Chen, P., Gatei, M., et al. (1999), J. Biol. Chem. 274, 34,277–34,282.

    CAS  Google Scholar 

  82. Smith, G. C., Cary, R. B., Lakin, N. D., Hann, B. C., Teo, S. H., Chen, D. J., et al. (1999), Proc. Natl. Acad. Sci. USA 96, 11,134–11,139.

    CAS  Google Scholar 

  83. Rasio, D., Negrini, M., and Croce, C. M. (1995), Cancer Res. 55, 6053–6057.

    PubMed  CAS  Google Scholar 

  84. Platzer, M., Rotman, G., Bauer, D., Savitsky, K., Shiloh, Y., and Rosenthal, A. (1997), Genome Res. 7, 592–605.

    PubMed  CAS  Google Scholar 

  85. Concannon, P. and Gatti, R. A. (1997), Hum. Mutat. 10, 100–107.

    Article  PubMed  CAS  Google Scholar 

  86. Telatar, M., Wang, Z., Udar, N., Liang, T., Bernatowska-Matuszkiewicz, E., Lavin, M., et al. (1996), Am. J. Hum. Genet. 59, 40–44.

    PubMed  CAS  Google Scholar 

  87. Wright, J., Teraoka, S., Onengut, S., Tolun, A., Gatti, R. A., Ochs, H. D., et al. (1996), Am. J. Hum. Genet. 59, 839–846.

    PubMed  CAS  Google Scholar 

  88. Teraoka, S., Telatar, M., Becker-Catania, S., Liang, T., Onegut, S., Tolun, A., et al. (1999), Am. J. Hum. Genet. 64, 1617–1631.

    Article  PubMed  CAS  Google Scholar 

  89. Castellvi-Bel, S., Sheikhavandi, S., Telatar, M., Tai, L-Q., Hwang, M., Wang, Z., et al. (1999), Hum. Mutat. 14, 156–162.

    Article  PubMed  CAS  Google Scholar 

  90. Vorechovsky, I., Rasio, D., Luo, L., Monaco, C., Hammarstrom, L., Webster, et al. (1996), Cancer Res. 56, 2726–2732.

    PubMed  CAS  Google Scholar 

  91. Telatar, M., Wang, S., Castellvi-Bel, S., Tai, L. Q., Sheikhavandi, S., Regueiro, J. R., et al. (1998), Mol. Genet. Metab. 64, 36–43.

    Article  PubMed  CAS  Google Scholar 

  92. Buzin, C. H., Wen, C. Y., Nguyen, V. Q., Nozari, G., Mengos, A., Li, X., et al. (2000), BioTechniques 28, 746–750.

    PubMed  CAS  Google Scholar 

  93. Thorstenson, Y., Oefner, P., and Chu, G. (1999), Eighth International Workshop on Ataxia-Telangiectasia. Las Vegas, NV, February 14–17, Abstract for poster.

  94. Hacia, J. G., Sun, B., Hunt, N., Edgemon, K., Mosbrook, D., Robbins, C., et al. (1998), Genome Res. 8, 1245–1258.

    PubMed  CAS  Google Scholar 

  95. Telatar, M., Teraoka, S., Wang, Z., Chun, H. H., Liang, T., Castellvi-Bel, S., et al. (1998), Am. J. Hum. Genet. 62, 86–97.

    Article  PubMed  CAS  Google Scholar 

  96. Laake, K., Telatar, M., Geitvik, G. A., Hansen, R. O., Heiberg, A., and Andersen, A. M. (1998), Eur. J. Hum. Genet. 6, 235–244.

    Article  PubMed  CAS  Google Scholar 

  97. Stankovic, T., Kidd, A. M. J., Sutcliffe, A., McGuire, G. M., Robinson, P., Weber, P., et al. (1998), Am. J. Hum. Genet. 62, 334–345.

    Article  PubMed  CAS  Google Scholar 

  98. Gilad, S., Bar-Shira, A., Harnik, R., Shkedy, D., Ziv, Y., Shosravi, R., et al. (1998), Hum. Mut. 12, 330–337.

    Article  Google Scholar 

  99. Sandoval, N., Platzer, M., Rosenthal, A., Dork, T., Bendix, R., Skawran, B., et al. (1999), Hum. Mol. Genet. 8, 69–79.

    Article  PubMed  CAS  Google Scholar 

  100. Broeks, A., de Klein, A., Floore, A. N., Muijtjens, M., Kleijer, W. J., Jaspers, N. G., et al. (1998), Hum. Mut. 12, 330–337.

    Article  PubMed  CAS  Google Scholar 

  101. Becker-Catania, S., Chen, G., Hwang, M. J., Wang, A., Sun, X. Sanal, O., et al. Mol. Genet. Metab. 70, 122–133.

  102. Vorechovsky, I., Luo, L., Lindblom, A., Negrini, M., Webster, D. B., Croce, C. M., et al. (1996), Cancer Res. 56, 4130–4133.

    PubMed  CAS  Google Scholar 

  103. Laake, K., Jansen, L., Hahnermann, J. M., Brondum-Nielsen, K., Lonnqvist, T., Kaariainen, H., et al. (2000), Hum. Mutat. 16, 232–246.

    Article  PubMed  CAS  Google Scholar 

  104. Lavin, M. F., Concannon, P., and Gatti, R. A. (1999), Cancer Res. 59, 3845–3849.

    PubMed  CAS  Google Scholar 

  105. Broeks, A., Broeks, A., Floore, A. N., Urbanus, J. H. M., Dahler, E. C., Klijn, J. G. M., et al. (2000), Am. J. Hum. Genet. 66, 494–500.

    Article  PubMed  CAS  Google Scholar 

  106. Dork, T., Nicke, M., Klopper, K., Bendix, R., Stuhmann, R., Bremer, M., et al. (1999), Am. J. Hum. Genet. 65 (Suppl), A124.

    Google Scholar 

  107. Bay, J-O., Grancho, M., Pernin, D., Presneau, N., Rio, P., Tchirkov, A., et al. (1998), Intl. J. Oncol. 12, 1385–1390.

    CAS  Google Scholar 

  108. Izatt, L., Greenman, J., Hodgson, S., Ellis, D., Watts, S., Scott, G., et al. (1999), Genes Chromosomes Cancer 26, 286–294.

    Article  PubMed  CAS  Google Scholar 

  109. Stankovic, T., Weber, P., Stewart, G., Bedenham, T., Byrd, P. J., Moss, P. A., et al. (1999), Lancet 353, 26–29.

    Article  PubMed  CAS  Google Scholar 

  110. Bullrich, F., Rasio, D., Kitada, S., Starostik, P., Kipps, T., Keating, M., et al. (1999), Cancer Res. 59, 24–27.

    PubMed  CAS  Google Scholar 

  111. Yuille, M. R., Colgnet, L. J., Abraham, S. M., Yaqub, F., Luo, L., Matutes, E., et al. (1998), Oncogene 16, 789–796.

    Article  PubMed  CAS  Google Scholar 

  112. Russo, G., Isobe, M., Gatti, R. A., Finan, J., Batuman, O., Huebner, K. (1989), Proc. Natl. Acad. Sci. USA 86, 602–606.

    Article  PubMed  CAS  Google Scholar 

  113. Schaffner, C., Silgenbauer, S., Rappold, G. A., Dohner, H., and Lichter, P. (1999), Blood 94, 748–753.

    PubMed  CAS  Google Scholar 

  114. Smith, L., Liu, S. J., Goodrich, L., Jacobson, D., Degnin, C., and Bentley, N. (1998), Nature Genet. 19, 39–46.

    Article  PubMed  CAS  Google Scholar 

  115. Laake, K., Launonen, V., Niederacher, D., Gudlaugsdottir, S., Seitz, S., Rio, P., et al. (1999), Genes Chromosomes Cancer 25, 212–221.

    Article  PubMed  CAS  Google Scholar 

  116. Kuljis, R. O., Xu, Y., Aguila, M. C., Baltimore, D. (1997), Proc. Natl. Acad. Sci. USA 94, 12,688–12,693.

    Article  CAS  Google Scholar 

  117. Borghesani, P. R., Alt, F. A., Bottaro, A., Davidson, L., Aksoy, S., and Rathbun, G. A., et al. (2000), Proc. Natl. Acad. Sci. USA 97, 3336–3341.

    Article  PubMed  CAS  Google Scholar 

  118. Swift, M., Reitnauer, P. J., Morrell, D., and Chase, C. L. (1987), N. Engl. J. Med. 316, 1289–1294.

    PubMed  CAS  Google Scholar 

  119. Swift, A., Morrell, D., Massey, R. B., and Chase, C. L. (1991), N. Engl. J. Med. 325, 1831–1836.

    PubMed  CAS  Google Scholar 

  120. Pippard, E. C., Hall, A. J., Barker, D. J. P., and Bridges, B. A. (1988), Cancer Res. 48, 2929–2933.

    PubMed  CAS  Google Scholar 

  121. Borresen, A. L., Andersen, T. I., Tretli, S., Heiberg, A., and Moller, P. (1990), Genes Chromosomes Cancer 2, 339–341.

    Article  PubMed  CAS  Google Scholar 

  122. Easton, D. F. (1994), Intl. J. Radiat. Biol. 66, S177-S182.

    PubMed  CAS  Google Scholar 

  123. Athma, P., Rappaport, R., and Swift, M. (1996), Cancer Genet. Cytogenet. 92, 130–134.

    Article  PubMed  CAS  Google Scholar 

  124. Chen, J., Birksholtz, G. C., Lindblom, P., Rubio, C., and Lindblom, A. (1998), Cancer Res. 58, 1376–1379.

    PubMed  CAS  Google Scholar 

  125. FitzGerald, M. G., Bean, J. M., Hegde, S. R., Unsal, H., MacDonald, D. J., Harkin, D. P., et al. (1997), Nature Genet. 15, 307–310.

    Article  PubMed  CAS  Google Scholar 

  126. Gatti, R. A., Tward, A., and Concannon, P. (1999), Mol. Genet. Metab. 69, 419–423.

    Article  CAS  Google Scholar 

  127. Young, B. R. and Painter, R. B. (1989), Hum. Genet. 82, 113–117.

    Article  PubMed  CAS  Google Scholar 

  128. Huo, Y. K., Wang, Z., Hong, J-H., Chessa, L., McBride, W. H., Perlman, S. L. et al. (1994), Cancer Res. 54, 2544–2547.

    PubMed  CAS  Google Scholar 

  129. Taylor, A. M. R., McConville, C. M., Rotman, G., Shiloh, Y., and Byrd, P. J. (1994), Intl. J. Radiat. Biol. 66, S35-S44.

    PubMed  CAS  Google Scholar 

  130. Woods, C. G. and Taylor, A. M. R. (1992), Q. J. Med. N. Series 298, 169–179.

    Google Scholar 

  131. Udar, N., Farzad, S., Tai, L-Q., Bay, J-O., and Gatti, R. A. (1999), Am. J. Med. Genet. 82, 287–289.

    Article  PubMed  CAS  Google Scholar 

  132. Piatek, A. S., Telenti, A., Murray, M. R., El-Hajj, H., Jacobs, W. R., Jr., Kramer, F. R., et al. (2000), Antimicrob. Agents Chemother. 44, 103–110.

    Article  PubMed  CAS  Google Scholar 

  133. Cerosaletti, K. M., Lange, E., Stringham, H. M., Weemaes, C. M. R., Smeets, D., Solder, B., et al. (1998), Am. J. Hum. Genet. 63, 125–134.

    Article  PubMed  CAS  Google Scholar 

  134. Hernandez, D., McConville, C. M., Stacey, M., Woods, C. G., Brown, M. M., Shutt, P., et al. (1993), J. Med. Genet. 30, 135–140.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Richard A. Gatti.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gatti, R.A., Becker-Catania, S., Chun, H.H. et al. The pathogenesis of ataxia-telangiectasia. Clinic Rev Allerg Immunol 20, 87–108 (2001). https://doi.org/10.1385/CRIAI:20:1:87

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1385/CRIAI:20:1:87

Keywords

Navigation