Personalized MRI-based characterization of subcortical anomalies in Ataxia-Telangiectasia using deep-learning.

Journal: PloS one
Published Date: Aug 29, 2025

Abstract

BACKGROUND: Cerebellar atrophy is a known feature of ataxia-telangiectasia (A-T). However, basal ganglia dysfunction contributing to extrapyramidal movement disorders in A-T remains understudied.

Authors

  • Catalina Saini
    College, Pontificia Universidad Católica de Chile, Av. Vicuña Mackenna, Macul, Santiago, Chile.
  • Cristian Salazar-Vilches
    Instituto Milenio iHealth, Av. Vicuña Mackenna, Macul, Santiago, Chile.
  • Caroline C V Blanchard
    Radiological Sciences, School of Medicine, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom.
  • William P Whitehouse
    Paediatric Neurology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham, United Kingdom.
  • Denis Parra
    Instituto Milenio iHealth, Av. Vicuña Mackenna, Macul, Santiago, Chile.
  • Rob A Dineen
    Radiological Sciences, School of Medicine, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom.
  • Stefan Pszczolkowski
    Radiological Sciences, School of Medicine, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom.

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