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The natural history of ataxia-telangiectasia (A-T): A systematic review.

Emily PetleyAlexander YuleShaun AlexanderShalini OjhaWilliam P Whitehouse
Published in: PloS one (2022)
This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.
Keyphrases
  • case report
  • depressive symptoms
  • copy number
  • gene expression
  • dna methylation
  • sleep quality
  • physical activity
  • blood brain barrier
  • subarachnoid hemorrhage