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7T MRI detects widespread brain iron deposition in neuroferritinopathy

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Peer-reviewed

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Authors

Murley, Alexander G.  ORCID logo  https://orcid.org/0000-0003-0813-0670
Biggs, Heather 
Rodgers, Christopher T.  ORCID logo  https://orcid.org/0000-0003-1275-1197

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.

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Publication status: Published


Funder: Stoneygate Trust


Funder: Lily Foundation; doi: http://dx.doi.org/10.13039/501100022186

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Sponsorship
UK Medical Research Council (13044, MR/S035699/1, MR/V009346/1, MR/S005021/1, MC_UU_00028/7)
Addenbrookes Charitable Trust (G100142)
Wellcome Trust (109915/Z/15/Z, 212219/Z/18/Z)
Royal Society (098436/Z/12/B)
BBSRC (BB/X00256X/1)
Evelyn Trust (219615/Z/19/Z)
Leverhulme Trust (RPG‐2018‐408)
Alzheimer's Society (AS‐PG‐18b‐022)
NIHR Cambridge Biomedical Research Centre (NIHR203312)