Ataxia-Telangiectasia: A Brief Historical Overview

  • Robert P. Sedgwick
Conference paper
Part of the NATO ASI Series book series (volume 77)


Despite two early case reports(1)(2) the clinical-pathological delineation of ataxia-telangiectasia (A-T) as a disease entity occurred over the years 1957–1963.(3)(4)(5)(6) By 1963 it was possible to publish a review of 101 cases world-wide illustrating the stereotyped nature of the disorder: progressive cerebellar ataxia in childhood, autosomal recessive heredity, oculocutaneous telangiectasia, frequency of sinopulmonary infection, peculiarity of eye movements, frequency of lymphoreticular malignancy and pathological demonstration of cortical cerebellar atrophy and dystrophic thymus.(6) Publications in 1963, 1964 and 1966(7)(8)(9) confirmed inconstant hypogammaglobulinemia (particularly IgA) and described immunological defect as shown by deficient response to a variety of antigenic stimuli and delayed and impaired skin homograft rejection. It was postulated that the fundamental immunological defect was a consequence of the thymic deficiency and suggestion was made that A-T patients may be critical keys to the study of complex host factors involved in immunogenesis and malignancy. In 1968 the peculiar generalized nucleocytomegaly was recognized confirming the fact that A-T is a multisystem disorder.(10)


Tuberous Sclerosis Deficient Response Familial Syndrome Immunological Defect Progressive Cerebellar Ataxia 
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  1. Aguilar MM, Kamoshita S, Landing GH, Boder E, Sedgwick RP (1968) Pathological observations in ataxia-telangiectasia. A report on 5 cases. J Neuropathol exp Neurol 27:659–676PubMedCrossRefGoogle Scholar
  2. Arlett CF, Harcourt SA (1980) Survey of radiosensitivity in a variety of human cell strains. Cancer Res 117:40:926–932Google Scholar
  3. Biemond A (1957) A palaeocerebellar atrophy with extrapyramidal manifestations in association with bronchiectasis and telangiectasis of the conjunctiva bulbi as a familial syndrome. In L van Bogaert and J Radermecker (eds) Proc 1st Intern Congr of Neurological Sciences Brussels July 1957 London Pergamon Press 4:206Google Scholar
  4. Boder E, Sedgwick RP (1957) Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy and a case history. Univ Sth Calif Med Bull 9:15–28Google Scholar
  5. Boder E, Sedgwick RP (1963a) Ataxia-telangiectasia. A review of 101 cases. In G Walsh (ed) Little Club Clinics in Develop Med London, Heinemann Medical Books 8:110–118Google Scholar
  6. Cox R, Hosking GP, Wilson J (1978) Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test. Arch Dis Child 53:5:386–390PubMedCrossRefGoogle Scholar
  7. Fireman P, Boesman M, Gitlin D (1964) Ataxia telangiectasia. A dysgammaglobulinemia with deficient gamma IA (B2A)-globulin. Lancet 1:1193–1195PubMedCrossRefGoogle Scholar
  8. Gatti RA (1991) Molecular genetics of ataxia-telangiectasia. Handbook of Clinical Neurology 16:60:425–431Google Scholar
  9. Gotoff SP, Amirmokri E, Liebner EJ (1967) Ataxia-telangiectasia Neoplasia, untoward response to X-irradiation, and tuberous sclerosis. Am J Dis Child 114:617–625PubMedGoogle Scholar
  10. Hanawalt P, Painter R (1985) On the nature of a ‘DNA-processing’ defect in ataxia-telangiectasia. In: RA Gatti and M Swift (eds) Ataxia-Telangiectasia. New York, Alan R Liss Inc. Kroc Found Ser 19:67–71Google Scholar
  11. Hecht F, Hecht BK (1985) Ataxia-Telangiectasia breakpoints in chromosome rearrangements reflect genes important to T and B lymphocytes. In: RA Gatti and M Swift (eds) Ataxia-Telangiectasia. New York, Alan R Liss Inc. Krock Found Ser 19:189–195Google Scholar
  12. Hecht F, MCCaw BK, Koler R (1973) Ataxia-Telangiectasia-clonal growth of translocation lymphocytes. N Engl J Med 289:6:286–291PubMedCrossRefGoogle Scholar
  13. Lehmann AR, James MR, Stevens SS (1982) Miscellaneous observations on DNS repair in ataxia-telangiectasia. In BA Bridges and DG Harnden (eds) Ataxia-Telangiectasia, New York, Wiley 347–353.Google Scholar
  14. Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétrigues, à disposition naevode et de troubles cérébelleux. Confin neurol (Basel) 4:32–42CrossRefGoogle Scholar
  15. Pascual-Pascual SI, Pascual-Castroviejo I, Fontan G, Lopez-Martin V (1981) Ataxia-Telangiectasia (A-T). Contribution with eighteen personal cases. Brain Dev 3:3:289–296PubMedCrossRefGoogle Scholar
  16. Paterson MC, Anderson AK, Smith BP, Smith PJ (1979) Enhanced radiosensitivity of cultured fibroblasts from ataxia-telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNS repair replication after hypoxic gamma-irradiation. Cancer Res 39:9:3725–3734PubMedGoogle Scholar
  17. Peterson RDA, Kelly WD, Good RA (1964) Ataxia-telangiectasia: Its association with a defective thymus, immunological-deficiency disease, and malignancy. Lancet 1:1189–1193PubMedCrossRefGoogle Scholar
  18. Strich S (1966) Pathological findings in 3 cases of ataxia-tellangiectasia. J Neurol, Neurosurg, Psychiatry 29:489–499CrossRefGoogle Scholar
  19. Swift M (1990) Genetics Aspects of Ataxia-Telangiectasia. Immunodefic Rev 2:67–81PubMedGoogle Scholar
  20. Syllaba L, Henner K (1926) Contribution à l’indépendance de l’athétose double idiopathigue at congénitale. Atteinte familiale, syndrome dystrophigue, signe du réseau vasculaire conjunctival, intégrité psychigue. Rev neurol 1:541–562Google Scholar
  21. Taylor AM, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Bridges BA (1975) Ataxia-Telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 4: 258 (5534) 427–429Google Scholar
  22. Waldmann TA, McIntire KR (1972 Serum-alpha-fetoprotein levels in patients with Ataxia-Telangiectasia Lancet 25; 2 (787) 1112–1115CrossRefGoogle Scholar
  23. Wells CE, Shy GM (1957) Progressive familial choreoathetosis with cutaneous telangiectasia. J Neurol Neurosurg Psychiat 20: 98–104PubMedCrossRefGoogle Scholar
  24. Young RR, Austen KF, Moser HW (1964a) Abnormalities of serum gamma 1A globulin and ataxia telangiectasia. Medicine 43:423–433PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1993

Authors and Affiliations

  • Robert P. Sedgwick
    • 1
  1. 1.Los AngelesUSA

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