The molecular basis and clinical management of ataxia telangiectasia

The unique combination of phenotypic manifestations seen in ataxia telangie ctasia (AT) has intrigued neurologists, oncologists, radiation biologists a nd immunologists for several decades. initially, the primary care givers of AT patients are often pediatricians but neurologists will inevitably becom e involved in their care. Over the last few years great strides have been m ade in understanding the genetic basis of this disease but useful therapeut ic interventions are still not available. In this article, we review the cl inical features and the current understanding of the pathophysiology of the syndrome. In addition, we address issues related to genetic counseling, pr enatal diagnosis, screening and implications for AT heterozygotes.