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Ataxia telangiectasia: what the neurologist needs to know
  1. May Yung Tiet1,
  2. Rita Horvath1,
  3. Anke E Hensiek1,2
  1. 1Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, UK
  2. 2National Adult Clinic for Ataxia Telangiectasia, Papworth Hospital NHS Foundation Trust, Cambridge, UK
  1. Correspondence to Anke E Hensiek, Clinical Neurosciences, Addenbrookes Hospital, Cambridge CB2 2QQ, UK; Ahensiek{at}nhs.net

Abstract

Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia—with some preserved ataxia telangiectasia-mutated (ATM) kinase activity—have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be aware of the spectrum of clinical presentations of ataxia telangiectasia, especially given the implications for malignancy surveillance and management. Here, we review the phenotypes of ataxia telangiectasia, illustrated with case reports and videos, and discuss its pathological mechanisms, diagnosis and management.

  • GENETICS
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Footnotes

  • Correction notice This article erroneously published with an open access licence in print. This article has been published under a standard licence.

  • Contributors MT, RH and AH contributed to the drafting of the text and preparation of figures. MT edited the supplementary videos.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Consent obtained directly from patient(s).

  • Provenance and peer review Commissioned. Externally peer reviewed by Rajith de Silva, London, UK.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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