MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study

Vroegindeweij, Lena H.P.; Wielopolski, Piotr A.; Wilson, J. H. P.; Verdijk, Rob; Zheng, Sipeng; Bonnet, Sylvestre; Bossoni, L.; Weerd, Louise van der; Hernández-Tamames, Juan Antonio; Langendonk, Janneke G.

doi:10.1016/j.neuroimage.2021.118752

Cited by 4 publications

(2 citation statements)

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“…8 Alternatively, any increase in iron deposition may be undetected by MRI due to a ceiling effect of magnetic susceptibility. This has been suggested in other NBIAs with postmortem validation 17 but not in neuroferritinopathy. 8 The widespread iron deposition and subsequent neurodegeneration mirrors the clinical presentations of neuroferritinopathy and explains why many symptoms are not typically associated with a focal disease of the basal ganglia.…”

Section: Discussionmentioning

confidence: 73%

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7T MRI detects widespread brain iron deposition in neuroferritinopathy

Murley,

Rua,

Biggs

et al. 2024

Ann Clin Transl Neurol

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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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Section: Discussionmentioning

confidence: 73%