Ataxia-telangiectasia: recommendations for multidisciplinary treatment

Authors

  • Nienke J H van Os,

    Corresponding author
    1. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
    • Correspondence to Nienke J H van Os at Department of Neurology, Huispost 935, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. E-mail: nienke.vanos@radboudumc.nl

    Search for more papers by this author
    • These authors contributed equally to this work.
  • Charlotte A Haaxma,

    1. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
    • These authors contributed equally to this work.
  • Michiel van der Flier,

    1. Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • Peter J F M Merkus,

    1. Department of Pediatric Pulmonology, Amalia Children's Hospital and Canisius Wilhelmina Hospital, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • Marcel van Deuren,

    1. Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • Imelda J M de Groot,

    1. Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • Jan Loeffen,

    1. Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Centre, Rotterdam, the Netherlands
    Search for more papers by this author
  • Bart P C van de Warrenburg,

    1. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • Michèl A A P Willemsen,

    1. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
    Search for more papers by this author
  • The A-T Study Group

    Search for more papers by this author
    • Members of the A-T Study Group are listed in Appendix S1 (online supporting information).

Abstract

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

Ancillary