Ataxia-Telangiectasia

  • Luciana Chessa
  • Agata Polizzi
  • Martino Ruggieri

Abstract

Ataxia Telangiectasia (AT; OMIM #208900) is a multisystemic autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, recurrent sinopulmonary infections, growth retardation, endocrine abnormalities, hypogonadism and cancer proneness, with laboratory evidence of increased alpha- fetoprotein levels, chromosomal instability and hypersensitivity to ionising radiations (Boder 1985, Taylor et al. 1975, Gatti et al. 1991). This radiohypersensitivity was first noted after exposure of an AT patient to conventional doses of radiation therapy, which proved fatal (Gotoff et al. 1967).

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Copyright information

© Springer-Verlag/Wien 2008

Authors and Affiliations

  • Luciana Chessa
    • 1
  • Agata Polizzi
    • 1
  • Martino Ruggieri
    • 2
    • 3
  1. 1.Department of Experimental Medicine 2nd Faculty of MedicineUniversity “La Sapienza”RomeItaly (LC, AP)
  2. 2.Institute of Neurological ScienceNational Research CouncilCataniaItaly (MR)
  3. 3.Institute of Neurological ScienceNational Research CouncilCatania

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