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The Molecular Basis and Clinical Management of Ataxia Telangiectasia

Published online by Cambridge University Press:  02 December 2014

Sian D. Spacey ,
Richard A. Gatti  and
Gwyn Bebb
Sian D. Spacey
Affiliation:
Department of Pathology, School of Medicine, University of California, Los Angeles, California, USA
Richard A. Gatti
Affiliation:
Department of Pathology, School of Medicine, University of California, Los Angeles, California, USA
Gwyn Bebb
Affiliation:
Department of Medicine, University of British Columbia, and the Department of Advanced Therapeutics, BC Cancer Research, Centre, Vancouver, BC, Canada
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Abstract

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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.

Résumé

RÉSUMÉ

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.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 27 , Issue 3 , August 2000 , pp. 184 - 191
Copyright
Copyright © The Canadian Journal of Neurological 2000

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