• Sara G. Becker-Catania
  • Richard A. Gatti
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 495)


The first documented cases of ataxia-telangiectasia (A-T) were described by Syllaba and Henner in 19261. They described 3 siblings with a progressive choreoathetosis and ocular telangiectasia who were thought to exhibit a variant form of Hunts familial double athetosis (a disorder involving the basal ganglia)’. It was upon later reanalysis of these three patients by Syllaba2and Boder (personal communication) that the diagnosis of A-T was established. The syndrome was again described by Louis-Bariwho described a patient with progressive cerebellar ataxia and cutaneous telangiectasia. This patient was thought to be affected with either a variant form of Sturge-Weber syndrome, or an entirely new syndrome; consequently the disease was referred to as Louis-Bar syndrome for a period of time.


Purkinje Cell Deep Cerebellar Nucleus Purkinje Cell Degeneration External Granule Cell Layer Progressive Cerebellar Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Syllaba K, Henner K. (1926) Rev Neurol 1:541–62.Google Scholar
  2. 2.
    Henner K. (1968) Rev Neurol 118(1):60–3.Google Scholar
  3. 3.
    Louis-Bar D. (1941) Confin Neurol (Basel) 4:32–42.Google Scholar
  4. 4.
    Boder E, Sedgwick RP. (1957) Univ South California Med Bull 9:15.Google Scholar
  5. 5.
    Boder E, Sedgwick RP. (1958) Pediatrics 21:526–54.Google Scholar
  6. 6.
    Boder E. (1985) In: Gatti RA, Swift M (eds) Ataxia-telangiectasia: An overview. New York, Liss, pp 1–63.Google Scholar
  7. 7.
    Gatti RA, Becker-Catania S, Chun HH et al. (2001) In Clinical Reviews in Allergy & Immunology. M. Ballow (ed).Google Scholar
  8. 8.
    Koeppen AH. (1998) J Neuropath Exp Neuro 57:531–43.Google Scholar
  9. 9.
    Klockgether T, Evert B. (1998) Trends Neuros 21;413–18.Google Scholar
  10. 10.
    Pandita TK, Pathak S, Geard C. (1995) Cytogenet Cell Genet 71:86–3.Google Scholar
  11. 11.
    Metcalfe JA, Parkhill J, Campbell L et al. (1996) Nature Genet 13:350–53.Google Scholar
  12. 12.
    Smilenov LB, Morgan SE, Mellado W et al. (1997) Oncogene 15(22):2659–65.Google Scholar
  13. 13.
    Regueiro F, Arnau A, Perez D et al. (2000) Arch Bronconeumol 36(1):55–7.Google Scholar
  14. 14.
    Hsieh C-L, Lieber MR. (1993) In: Ataxia-Telangiectasia. Eds. RA Gatti and RB Painter. Springer-Verlag, Heidelberg. Pp 143–54.CrossRefGoogle Scholar
  15. 15.
    Gotoff SP, Amirmokri E, Liebner EJ. (1967) Am J Dis Child 114:617–25.Google Scholar
  16. 16.
    Taylor AM, Harnden DG, Arlett CF et al. (1975) Nature, 258 (5534):427–29.Google Scholar
  17. 17.
    Huo YK, Wang Z, Hong J-H et al. (1994) Cancer Res 54:2544–47.Google Scholar
  18. 18.
    Painter RB and Young BR. (1980) Proc Natl Acad Sci USA 77:7315–17.Google Scholar
  19. 19.
    Morrell D, Cromartie E, Swift M. (1986) J Natl Cancer Inst 77:89–92.Google Scholar
  20. 20.
    Swift M, Morrell D, Massey RB et al. (1991) N Eng J Med 325:1831–36.Google Scholar
  21. 21.
    Taylor AM, Metcalfe JA, Thick J et al. (1996) Blood 87 (2):423–38.Google Scholar
  22. 22.
    Gatti RA, Tward A, Concannon P. (1999) Molec Genet Metabolism 69:419–23.Google Scholar
  23. 23.
    Broeks A, Floore AN, Urbanus JHM et al. (2000) Amer J Hum Genet 66:494–500.Google Scholar
  24. 24.
    Su Y, Swift M. (2000) Ann Intern Med 133(10):770–78.Google Scholar
  25. 25.
    Gatti RA, Berke’ I, Boder E et al. (1988) Nature 336:577–80.Google Scholar
  26. 26.
    Lange E, Corresen A-L, Chen X et al. (1995) Amer J Hum Genet 57:112.Google Scholar
  27. 27.
    Savitsky K, Bar-Shira A, Gilad S et al. (1995) Science 268:1749–53.Google Scholar
  28. 28.
    Savitsky K, Sfez S, Tagle D et al. (1995) Hum Mol Genet 4:2025–32.Google Scholar
  29. 29.
    Uziel T, Savitsky K, Platzer M et al. (1996) Genomics 33:317–20.Google Scholar
  30. 30.
    Khanna KK, Keating KE, Kozlov S et al. (1998) Nature Genet 20:398–400.Google Scholar
  31. 31.
    Zhao S, Yuan FS-S, Weng Y-C et al. (2000) Nature 405: 473–76.Google Scholar
  32. 32.
    Gatei M, Scott SP, Filippovitch I et al. (2000) Cancer Res 60(12):3299–304.Google Scholar
  33. 33.
    Li S, Ting NS, Zheng L et al. (2000) Nature 406: 210–15.Google Scholar
  34. 34.
    Yang DQ, Kastan MB (2000) Nat Cell Biol 12:893–8.Google Scholar
  35. 35.
    Wang Y, Cortez D, Yazdi P et al. (2000) Genes Develop 14:927–39.Google Scholar
  36. 36.
    Becker-Catania S, Chen G, Hwang MJ et al. (2000) Molec Genet Metab 70:122–33.Google Scholar
  37. 37.
    Laake K, Vu P, Andersen TI. (2000) Br J Cancer 83(12):1650–3.Google Scholar
  38. 38.
    Li A, Swift M (2000) Am J Med Genet 92(3):170–7.Google Scholar
  39. 39.
    Barlow C, Hirotsune S, Paylor R et al. (1996) Cell 86:159–71.Google Scholar
  40. 40.
    Herzog K-H, Chong MJ, Kapsetaki M et al. (1998) Science 280:1089–91.Google Scholar
  41. 41.
    Barlow C, Dennery PA, Shigenaga MK et al. (1999) Proc Natl Acad Sci 96: 9915–19.Google Scholar
  42. 42.
    Borghesani PR, Alt FA, Bottaro A et al. (2000) Proc Natl Acad Sci 97:3336Google Scholar

Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Sara G. Becker-Catania
    • 1
  • Richard A. Gatti
    • 2
  1. 1.Department of Psychiatry and Biobehavioral ScienceLos AngelesUSA
  2. 2.Department of Pathology and Laboratory MedicineUCLA School of MedicineLos AngelesUSA

Personalised recommendations