PATHOGENESIS, DIAGNOSIS, CLINICAL AND THERAPEUTIC ASPECTS OF ATAXIA-TELANGIECTASIA

Ataxia-telangiectasia (AT) is an autosomal recessively in herited dise ase (one case in 40000 to one case in 100000 live births) whose princi pal features are oculocutaneous telangiectasia, progressive cerebellar ataxia, B-and T-cell immunodeficiency with recurrent sinopulmonary in fections, sensitivity to ionizing radiation and cancer predisposition. The AT-gene (ATM) was recently identified by positional cloning on ch romosome 11q22-23. In this paper the diagnostic, clinical and therapeu tic problems of 9 AT-patients treated in our clinic are discussed in c ontext with the current literature.Although all patients had discrete signs of cerebellar ataxia at infancy, there was a significant delay o f definitive diagnosis (median 4, range 1.5-6.5). Elevated alpha fetop rotein levels clearly distinguish AT from other ataxias and immunodefi ciency syndromes.