Annals of Clinical and Translational Neurology (May 2024)

7T MRI detects widespread brain iron deposition in neuroferritinopathy

  • Alexander G. Murley,
  • Catarina Rua,
  • Heather Biggs,
  • Christopher T. Rodgers,
  • Tomasz Matys,
  • Jelle van denAmeele,
  • Rita Horvath,
  • Patrick F. Chinnery

DOI
https://doi.org/10.1002/acn3.52053
Journal volume & issue
Vol. 11, no. 5
pp. 1359 – 1364

Abstract

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Abstract Neuroferritinopathy is a disorder of neurodegeneration with brain iron accumulation that has no proven disease‐modifying treatments. Clinical trials require biomarkers of iron deposition. We examined brain iron accumulation in one presymptomatic FTL mutation carrier, two individuals with neuroferritinopathy and one healthy control using ultra‐high‐field 7T MRI. There was increased magnetic susceptibility, suggestive of iron deposition, in superficial and deep gray matter in both presymptomatic and symptomatic neuroferritinopathy. Cavitation of the putamen and globus pallidus increased with disease stage and at follow up. The widespread brain iron deposition in presymptomatic and early disease provides an opportunity for monitoring disease‐modifying intervention.