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The Molecular Basis and Clinical Management of Ataxia Telangiectasia

  • Sian D. Spacey (a1), Richard A. Gatti (a1) and Gwyn Bebb (a2)


The unique combination of phenotypic manifestations seen in ataxia telangiectasia (AT) has intrigued neurologists, oncologists, radiation biologists and immunologists for several decades. Initially, the primary care givers of AT patients are often pediatricians but neurologists will inevitably become involved in their care. Over the last few years great strides have been made in understanding the genetic basis of this disease but useful therapeutic interventions are still not available. In this article, we review the clinical features and the current understanding of the pathophysiology of the syndrome. In addition, we address issues related to genetic counseling, prenatal diagnosis, screening and implications for AT heterozygotes.


La combinaison unique des manifestations phétypiques observédans l’ataxie-téngiectasie (AT) a intriguées neurologues, les oncologues, les radiobiologistes et les immunologistes depuis plusieurs dénnies. Initialement, les principaux dispensateurs de soins àes patients sont souvent les péatres, mais les neurologues sont inétablement impliqué Au cours des derniès anné, des progrèimportants ont é réisédans la comprénsion du fondement gétique de cette maladie, mais il n’existe pas encore de traitement. Nous revoyons les manifestations cliniques et les connaissances actuelles de la physiopathologie de ce syndrome. De plus, nous discutons des questions relatives au conseil gétique, au diagnostic prétal, au déstage et aux implications pour les hérozygotes.

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The Molecular Basis and Clinical Management of Ataxia Telangiectasia

  • Sian D. Spacey (a1), Richard A. Gatti (a1) and Gwyn Bebb (a2)


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