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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes pp 731–758Cite as

Ataxia-Telangiectasia

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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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Authors and Affiliations

  1. Department of Experimental Medicine 2nd Faculty of Medicine, University “La Sapienza”, Via di Grottarossa, 1035, 00160, Rome, Italy (LC, AP)

    Luciana Chessa MD, PhD & Agata Polizzi MD, PhD

  2. Institute of Neurological Science, National Research Council, Viale R. Margherita, 6, 95125, Catania, Italy (MR)

    Martino Ruggieri MD, PhD

  3. Institute of Neurological Science, National Research Council, Catania

    Martino Ruggieri MD, PhD

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  1. Luciana Chessa MD, PhD
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  2. Agata Polizzi MD, PhD
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  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Chessa, L., Polizzi, A., Ruggieri, M. (2008). Ataxia-Telangiectasia. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_49

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