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Quality of life in ataxia-telangiectasia

  • Nienke J.H. van Os
    Correspondence
    Department of Pediatric Neurology, Amalia Childrens Hospital, Nijmegen, the Netherlands.
    Affiliations
    Department of Pediatric Neurology, Amalia Childrens Hospital, Nijmegen, the Netherlands

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical center, Nijmegen, the Netherlands
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Published:August 18, 2022DOI:https://doi.org/10.1016/j.ejpn.2022.08.005
      Ataxia-telangiectasia (A-T) is a rare neurodegenerative disorder that was first described as a familial syndrome in a case series by Boder and Sedgwick in 1958 [
      • Boder E.
      • Sedgwick R.P.
      Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.
      ]. They noted that patients with A-T would have a characteristic ‘equable disposition’, as these children would seem to have made a good adjustment to their progressive and severe handicap. Children with A-T were described as being socially responsive, appreciative and undemanding [
      • Boder E.
      • Sedgwick R.P.
      Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.
      ].
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      References

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