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7T MRI detects widespread brain iron deposition in neuroferritinopathy.

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Murley, Alexander G  ORCID logo
Biggs, Heather 
Rodgers, Christopher T  ORCID logo


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.



Humans, Magnetic Resonance Imaging, Neuroaxonal Dystrophies, Iron Metabolism Disorders, Iron, Adult, Male, Female, Brain, Middle Aged, Apoferritins

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Ann Clin Transl Neurol

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Wellcome Trust (212219/Z/18/Z)
MRC (MR/S035699/1)
Wellcome Trust (098436/Z/12/B)
Wellcome Trust (109915_A_15_Z)
Wellcome Trust (219615/Z/19/Z)
MRC (MR/V009346/1)
This work was funded by the UK Medical Research Council (13,044). A.G. Murley is an Clinical Lecturer. C. T. Rodgers was funded by a Sir Henry Dale Fellowship from the Wellcome Trust and Royal Society (098436/Z/12/B). J. van den Ameele is a Wellcome Clinical Research Career Development Fellow (219615/Z/19/Z), who receives support from the Evelyn Trust (21-25), the MRC Mitochondrial Biology Unit (MC_UU_00028/8) and the BBSRC (BB/X00256X/1). R.Horvath. is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Medical Research Council (UK) (MR/V009346/1), the Addenbrookes Charitable Trust (G100142), the Evelyn Trust, the Stoneygate Trust, the Lily Foundation, Action for AT and an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1. P.F. Chinnery is a Wellcome Trust Principal Research Fellow (212219/Z/18/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UU_00028/7), the Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Leverhulme Trust (RPG-2018-408), an MRC research grant (MR/S035699/1), and an Alzheimer’s Society Project Grant (AS-PG-18b-022). This research was supported by the NIHR Cambridge Biomedical Research Centre (NIHR203312). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.