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Ataxia-Telangiectasia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Ataxia-telangiectasia (A-T) is a rare hereditary disorder characterized by progressive cerebellar ataxia, conjunctival telangiectasias, recurrent sinopulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Ataxia-Telangiectasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_18

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_18

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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