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Ataxia-Telangiectasia

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

Keywords

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.

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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

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