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Research ArticleAdult Brain

Quantifying Brain Iron in Hereditary Hemochromatosis Using R2* and Susceptibility Mapping

S.K. Sethi, S. Sharma, S. Gharabaghi, D. Reese, Y. Chen, P. Adams, M.S. Jog and E.M. Haacke
American Journal of Neuroradiology July 2022, 43 (7) 991-997; DOI: https://doi.org/10.3174/ajnr.A7560
S.K. Sethi
aFrom the Department of Radiology (S.K.S., E.M.H.), Wayne State University, Detroit, Michigan
bSpinTech MRI Inc (S.K.S., S.G., E.M.H.), Bingham Farms, Michigan
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S. Sharma
cDepartment of Clinical Neurological Sciences (S.S., M.S.J.), London Health Sciences Centre
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S. Gharabaghi
bSpinTech MRI Inc (S.K.S., S.G., E.M.H.), Bingham Farms, Michigan
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D. Reese
eImaging Research Laboratories (D.R.), Robarts Research Institute, London, Ontario, Canada
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Y. Chen
fDepartment of Neurology (Y.C.), Wayne State University School of Medicine, Detroit, Michigan
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P. Adams
dDivision of Gastroenterology (P.A.), Department of Medicine, Western University, London, Ontario, Canada
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M.S. Jog
cDepartment of Clinical Neurological Sciences (S.S., M.S.J.), London Health Sciences Centre
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E.M. Haacke
aFrom the Department of Radiology (S.K.S., E.M.H.), Wayne State University, Detroit, Michigan
bSpinTech MRI Inc (S.K.S., S.G., E.M.H.), Bingham Farms, Michigan
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Abstract

BACKGROUND AND PURPOSE: Brain iron dyshomeostasis is increasingly recognized as an important contributor to neurodegeneration. Hereditary hemochromatosis is the most commonly inherited disorder of systemic iron overload. Although there is an increasing interest in excessive brain iron deposition, there is a paucity of evidence showing changes in brain iron exceeding that in healthy controls. Quantitative susceptibility mapping and R2* mapping are established MR imaging techniques that we used to noninvasively quantify brain iron in subjects with hereditary hemochromatosis.

MATERIALS AND METHODS: Fifty-two patients with hereditary hemochromatosis and 47 age- and sex-matched healthy controls were imaged using a multiecho gradient-echo sequence at 3T. Quantitative susceptibility mapping and R2* data were generated, and regions within the deep gray matter were manually segmented. Mean susceptibility and R2* relaxation rates were calculated for each region, and iron content was compared between the groups.

RESULTS: We noted elevated iron levels in patients with hereditary hemochromatosis compared with healthy controls using both R2* and QSM methods in the caudate nucleus, putamen, pulvinar thalamus, red nucleus, and dentate nucleus. Additionally, the substantia nigra showed increased susceptibility while the thalamus showed an increased R2* relaxation rate compared with healthy controls, respectively.

CONCLUSIONS: Both quantitative susceptibility mapping and R2* showed abnormal levels of brain iron in subjects with hereditary hemochromatosis compared with controls. Quantitative susceptibility mapping and R2* can be acquired in a single MR imaging sequence and are complementary in quantifying deep gray matter iron.

ABBREVIATIONS:

CN
caudate nucleus
GP
globus pallidus
DGM
deep gray matter
DN
dentate nucleus
FDRI
field-dependent relaxation rate increase
HC
healthy controls
HH
hereditary hemochromatosis
PUT
putamen
PT
pulvinar of the thalamus
QSM
quantitative susceptibility mapping
RN
red nucleus
SN
substantia nigra
SWIM
susceptibility weighted imaging and mapping
THA
thalamus
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American Journal of Neuroradiology: 43 (7)
American Journal of Neuroradiology
Vol. 43, Issue 7
1 Jul 2022
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Quantifying Brain Iron in Hereditary Hemochromatosis Using R2* and Susceptibility Mapping
S.K. Sethi, S. Sharma, S. Gharabaghi, D. Reese, Y. Chen, P. Adams, M.S. Jog, E.M. Haacke
American Journal of Neuroradiology Jul 2022, 43 (7) 991-997; DOI: 10.3174/ajnr.A7560

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Quantifying Brain Iron in Hereditary Hemochromatosis Using R2* and Susceptibility Mapping
S.K. Sethi, S. Sharma, S. Gharabaghi, D. Reese, Y. Chen, P. Adams, M.S. Jog, E.M. Haacke
American Journal of Neuroradiology Jul 2022, 43 (7) 991-997; DOI: 10.3174/ajnr.A7560
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