Ataxia-Telangiectasia: A Brief Historical Overview

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

Abstract

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)

Keywords

Neurol Kelly Stim Alan Bronchiectasis 

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References

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Copyright information

© Springer-Verlag Berlin Heidelberg 1993

Authors and Affiliations

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

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