title: [From gene to disease; ataxia telangiectasia].
abstract: Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectasia, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to cell kill by ionising radiation and abnormally resistant to inhibition of DNA synthesis by ionising radiation. The responsible gene, 'ataxia telangiectasia mutated' (ATM) plays a crucial role in a signal transduction pathway, regulating the cell cycle, and in preventing damaged DNA from being reproduced. This rare genetic disorder manifests itself during childhood. The illness is progressive and most individuals die in their second or third decade of life due to infections or cancer. AT is difficult to diagnose due to its rarity and clinical heterogeneity. Both a physical examination and several laboratory tests are necessary for establishing its proper diagnosis.
authors.affiliation: Afd. Experimentele Therapie, Het Nederlands Kanker Instituut/Antoni van Leeuwenhoek Ziekenhuis, Plesmanlaan 121, 1066 CX Amsterdam. abroeks@nki.nl
authors.forename: A
authors.initials: A
authors.lastname: Broeks
authors.forename: L J
authors.initials: LJ
authors.lastname: van 't Veer
authors.forename: C
authors.initials: C
authors.lastname: Ottenheim
authors.forename: J A P
authors.initials: JA
authors.lastname: Hiel
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: C
authors.initials: C
authors.lastname: Weemaes
mesh_terms: D000917:Antibody Formation / Q000235:genetics; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D064007:Ataxia Telangiectasia Mutated Proteins; D002453:Cell Cycle / Q000235:genetics; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D003937:Diagnosis, Differential; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics; D009154:Mutation; D010808:Physical Examination; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011836:Radiation Tolerance / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases