title: [Pathogenesis, diagnosis, clinical and therapeutic aspects of ataxia telangiectasia].
abstract: Ataxia-telangiectasia (AT) is an autosomal recessively inherited disease (one case in 40,000 to one case in 100,000 live births) whose principal features are oculocutaneous telangiectasia, progressive cerebellar ataxia, B- and T-cell immunodeficiency with recurrent sinopulmonary infections, sensitivity to ionizing radiation and cancer predisposition. The AT-gene (ATM) was recently identified by positional cloning on chromosome 11q22-23. In this paper the diagnostic, clinical and therapeutic problems of 9 AT-patients treated in our clinic are discussed in context with the current literature. Although all patients had discrete signs of cerebellar ataxia at infancy, there was a significant delay of definitive diagnosis (median 4, range 1.5-6.5). Elevated alpha fetoprotein levels clearly distinguish AT from other ataxias and immunodeficiency syndromes.
authors.affiliation: Zentrum der Kinderheilkunde und Jugendmedizin, Klinikum, Johann-Wolfgang-Goethe-Universität Frankfurt.
authors.forename: T
authors.initials: T
authors.lastname: Güngör
authors.forename: I
authors.initials: I
authors.lastname: Bühring
authors.forename: R
authors.initials: R
authors.lastname: Cremer
authors.forename: M
authors.initials: M
authors.lastname: Gartenschläger
authors.forename: S
authors.initials: S
authors.lastname: Zielen
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins; D005260:Female; D005808:Genes, Recessive; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D010348:Patient Care Team; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases