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Ataxia-Telangiectasia

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Progress in Basic and Clinical Immunology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 495))

Abstract

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.

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Author information

Authors and Affiliations

  1. Department of Psychiatry and Biobehavioral Science, Los Angeles, USA

    Sara G. Becker-Catania

  2. Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, CA, 90095, USA

    Richard A. Gatti

Authors
  1. Sara G. Becker-Catania
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  2. Richard A. Gatti
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Editor information

Editors and Affiliations

  1. GreatPoland Cancer Center, University School of Medical Sciences, Poznan, Poland

    Andrzej Mackiewicz

  2. Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

    Maciej Kurpisz

  3. Department of Immunology, University School of Medical Sciences, Poznan, Poland

    Jan Żeromski

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© 2001 Springer Science+Business Media New York

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Becker-Catania, S.G., Gatti, R.A. (2001). Ataxia-Telangiectasia. In: Mackiewicz, A., Kurpisz, M., Żeromski, J. (eds) Progress in Basic and Clinical Immunology. Advances in Experimental Medicine and Biology, vol 495. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0685-0_26

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  • DOI: https://doi.org/10.1007/978-1-4615-0685-0_26

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-5194-8

  • Online ISBN: 978-1-4615-0685-0

  • eBook Packages: Springer Book Archive

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