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

References

1. 1.↵
   1. Bartzokis G,
   2. Lu PH,
   3. Tishler TA, et al

   . Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men. J Alzheimers Dis 2010;20:333–41 doi:10.3233/JAD-2010-1368 pmid:20164577

   Abstract/FREE Full Text
2. 2.↵
   1. Bartzokis G,
   2. Lu PH,
   3. Tingus K, et al

   . Gender and iron genes may modify associations between brain iron and memory in healthy aging. Neuropsychopharmacology 2011;36:1375–84 doi:10.1038/npp.2011.22 pmid:21389980

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Hagemeier J,
   2. Ramanathan M,
   3. Schweser F, et al

   . Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals. Neuroimage Clin 2018;17:530–40 doi:10.1016/j.nicl.2017.11.003 pmid:29201641

   CrossRefPubMed
4. 4.↵
   1. Brissot P,
   2. Cavey T,
   3. Ropert M, et al

   . Genetic hemochromatosis: pathophysiology, diagnostic and therapeutic management. Presse Med 2017;46:e288–95 doi:10.1016/j.lpm.2017.05.037 pmid:29158016

   CrossRefPubMed
5. 5.↵
   1. Powell LW,
   2. Seckington RC,
   3. Deugnier Y

   . Haemochromatosis. Lancet 2016;388:706–16 doi:10.1016/S0140-6736(15)01315-X pmid:26975792

   CrossRefPubMed
6. 6.↵
   1. Milman NT,
   2. Schioedt FV,
   3. Junker AE, et al

   . Diagnosis and treatment of genetic HFE-hemochromatosis: the Danish aspect. Gastroenterology Res 2019;12:221–32 doi:10.14740/gr1206 pmid:31636772

   CrossRefPubMed
7. 7.↵
   1. Nielsen JE,
   2. Jensen LN,
   3. Krabbe K

   . Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome. J Neurol Neurosurg Psychiatry 1995;59:318–21 doi:10.1136/jnnp.59.3.318 pmid:7673967

   Abstract/FREE Full Text
8. 8.↵
   1. Golfeyz S,
   2. Lewis S,
   3. Weisberg IS

   . Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert Rev Gastroenterol Hepatol 2018;12:767–78 doi:10.1080/17474124.2018.1496016 pmid:29966105

   CrossRefPubMed
9. 9.↵
   1. Labranche R,
   2. Gilbert G,
   3. Cerny M, et al

   . Liver iron quantification with MR imaging: a primer for radiologists. Radiographics 2018;38:392–412 doi:10.1148/rg.2018170079 pmid:29528818

   CrossRefPubMed
10. 10.↵
    1. Wang R,
    2. Xie G,
    3. Zhai M, et al

    . Stability of R2∗ and quantitative susceptibility mapping of the brain tissue in a large scale multi-center study. Sci Rep 2017;7:45261 doi:10.1038/srep45261 pmid:28349957

    CrossRefPubMed
11. 11.↵
    1. Ropele S,
    2. Wattjes MP,
    3. Langkammer C, et al

    . Multicenter R2* mapping in the healthy brain. Magn Reson Med 2014;71:1103–07 doi:10.1002/mrm.24772 pmid:23657963

    CrossRefPubMed
12. 12.↵
    1. Wang C,
    2. Foxley S,
    3. Ansorge O, et al

    . Methods for quantitative susceptibility and R2* mapping in whole post-mortem brains at 7T applied to amyotrophic lateral sclerosis. Neuroimage 2020;222:117216 doi:10.1016/j.neuroimage.2020.117216 pmid:32745677

    CrossRefPubMed
13. 13.↵
    1. Zheng W,
    2. Nichol H,
    3. Liu S, et al

    . Measuring iron in the brain using quantitative susceptibility mapping and X-ray fluorescence imaging. Neuroimage 2013;78:68–74 doi:10.1016/j.neuroimage.2013.04.022 pmid:23591072

    CrossRefPubMed
14. 14.↵
    1. Haacke EM,
    2. Liu S,
    3. Buch S, et al

    . Quantitative susceptibility mapping: current status and future directions. Magn Reson Imaging 2015;33:1–25 doi:10.1016/j.mri.2014.09.004 pmid:25267705

    CrossRefPubMed
15. 15.↵
    1. Yan F,
    2. He N,
    3. Lin H, et al

    . Iron deposition quantification: applications in the brain and liver. J Magn Reson Imaging 2018;48:301–17 doi:10.1002/jmri.26161 pmid:29897645

    CrossRefPubMed
16. 16.↵
    1. Ghassaban K,
    2. Liu S,
    3. Jiang C, et al

    . Quantifying iron content in magnetic resonance imaging. Neuroimage 2019;187:77–92 doi:10.1016/j.neuroimage.2018.04.047 pmid:23591072

    CrossRefPubMed
17. 17.↵
    1. Haacke EM,
    2. Cheng NY,
    3. House MJ, et al

    . Imaging iron stores in the brain using magnetic resonance imaging. Magn Reson Imaging 2005;23:1–25 doi:10.1016/j.mri.2004.10.001 pmid:15733784

    CrossRefPubMedWeb of Science
18. 18.↵
    1. Smith S

    . Fast robust automated brain extraction. Hum Brain Mapp 2002;17:143–55 doi:10.1002/hbm.10062 pmid:12391568

    CrossRefPubMedWeb of Science
19. 19.↵
    1. Abdul-Rahman HS,
    2. Gdeisat MA,
    3. Burton DR, et al

    . Fast and robust three-dimensional best path phase unwrapping algorithm. Appl Opt 2007;46:6623–35 doi:10.1364/ao.46.006623 pmid:17846656

    CrossRefPubMed
20. 20.↵
    1. Schweser F,
    2. Deistung A,
    3. Lehr BW, et al

    . Quantitative imaging of intrinsic magnetic tissue properties using MRI signal phase: an approach to in vivo brain iron metabolism? Neuroimage 2011;54:2789–807 doi:10.1016/j.neuroimage.2010.10.070 pmid:21040794

    CrossRefPubMedWeb of Science
21. 21.↵
    1. Tang J,
    2. Liu S,
    3. Neelavalli J, et al

    . Improving susceptibility mapping using a threshold-based K-space/image domain iterative reconstruction approach. Magn Reson Med 2013;69:1396–1407 doi:10.1002/mrm.24384 pmid:33192267

    CrossRefPubMed
22. 22.↵
    1. Gharabaghi S,
    2. Liu S,
    3. Wang Y, et al

    . Multi-echo quantitative susceptibility mapping for Strategically Acquired Gradient Echo (STAGE) imaging. Front Neurosci 2020;14:581474 doi:10.3389/fnins.2020.581474 pmid:33192267

    CrossRefPubMed
23. 23.↵
    1. Chen Y,
    2. Liu S,
    3. Wang Y, et al

    . STrategically Acquired Gradient Echo (STAGE) imaging, Part I: creating enhanced T1 contrast and standardized susceptibility weighted imaging and quantitative susceptibility mapping. Magn Reson Imaging 2018;46:130–39 doi:10.1016/j.mri.2017.10.005 pmid:29056394

    CrossRefPubMed
24. 24.↵
    1. Sethi SK,
    2. Kisch SJ,
    3. Ghassaban K, et al

    . Iron quantification in Parkinson’s disease using an age-based threshold on susceptibility maps: the advantage of local versus entire structure iron content measurements. Magn Reson Imaging 2019;55:145–52 doi:10.1016/j.mri.2018.10.001] pmid:30321664

    CrossRefPubMed
25. 25.↵
    1. Brissot P,
    2. Pietrangelo A,
    3. Adams PC, et al

    . Haemochromatosis. Nat Rev Dis Prim 2018;4:18016 doi:10.1038/nrdp.2018.16 pmid:29620054

    CrossRefPubMed
26. 26.↵
    1. Brissot P,
    2. Troadec MB,
    3. Loréal O, et al

    . Pathophysiology and classification of iron overload diseases; update 2018. Transfus Clin Biol 2019;26:80–88 doi:10.1016/j.tracli.2018.08.006 pmid:30173950

    CrossRefPubMed
27. 27.↵
    1. Pietrangelo A

    . Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010;139:393–408 doi:10.1053/j.gastro.2010.06.013 pmid:20542038

    CrossRefPubMedWeb of Science
28. 28.↵
    1. Kawabata H

    . The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. Int J Hematol 2018;107:31–43 doi:10.1007/s12185-017-2365-3 pmid:29134618

    CrossRefPubMed
29. 29.↵
    1. Katsarou MS,
    2. Papasavva M,
    3. Latsi R, et al

    . Hemochromatosis: Hereditary Hemochromatosis and HFE gene. Elsevier; 2019
30. 30.↵
    1. Russo N,
    2. Edwards M,
    3. Andrews T, et al

    . Hereditary haemochromatosis is unlikely to cause movement disorders. J Neurol 2004;251:849–52 doi:10.1007/s00415-004-0445-9 pmid:15258788

    CrossRefPubMed
31. 31.↵
    1. Wade QW,
    2. Chiou B,
    3. Connor JR

    1. Wade QW,
    2. Chiou B,
    3. Connor JR

    . Iron uptake at the blood-brain barrier is influenced by sex and genotype. In: Wade QW, Chiou B, Connor JR. Adv Pharmacol 2019;84:123–45 doi:10.1016/bs.apha.2019.02.005

    CrossRefPubMed
32. 32.↵
    1. Nandar W,
    2. Connor JR

    . HFE gene variants affect iron in the brain. J Nutr 2011;141:729S–39S doi:10.3945/jn.110.130351 pmid:21346098

    Abstract/FREE Full Text
33. 33.↵
    1. Connor JR,
    2. Milward EA,
    3. Moalem S, et al

    . Is hemochromatosis a risk factor for Alzheimer’s disease? J Alzheimers Dis 2001;3:471–77 doi:10.3233/jad-2001-3506 pmid:12214033

    CrossRefPubMed
34. 34.↵
    1. Hänninen MM,
    2. Haapasalo J,
    3. Haapasalo H, et al

    . Expression of iron-related genes in human brain and brain tumors. BMC Neurosci 2009;10:36 doi:10.1186/1471-2202-10-36 pmid:19386095

    CrossRefPubMed
35. 35.↵
    1. Bastin JM,
    2. Jones M,
    3. O’Callaghan CA, et al

    . Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary haemochromatosis. Br J Haematol 1998;103:931–41 doi:10.1046/j.1365-2141.1998.01102.x pmid:9886303

    CrossRefPubMedWeb of Science
36. 36.↵
    1. Johnstone D,
    2. Milward EA

    . Molecular genetic approaches to understanding the roles and regulation of iron in brain health and disease. J Neurochem 2010;113:1387–402 doi:10.1111/j.1471-4159.2010.06697.x pmid:20345752

    CrossRefPubMed
37. 37.↵
    1. Kalpouzos G,
    2. Mangialasche F,
    3. Falahati F, et al

    . Contributions of HFE polymorphisms to brain and blood iron load, and their links to cognitive and motor function in healthy adults. Neuropsychopharmacol Rep 2021;41:393–404 doi:10.1002/npr2.12197 pmid:34291615

    CrossRefPubMed
38. 38.↵
    1. Sharma S,
    2. Sethi SK,
    3. Reese D, et al

    . Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: a cross-sectional study. Eur J Neurol 2022;29:1417–26 doi:10.1111/ene.15242 pmid:34989476

    CrossRefPubMed
39. 39.↵
    1. Berg D,
    2. Hoggenmüller U,
    3. Hofmann E, et al

    . The basal ganglia in haemochromatosis. Neuroradiology 2000;42:9–13 doi:10.1007/s002340050002 pmid:10663462

    CrossRefPubMedWeb of Science
40. 40.↵
    1. Kumar N,
    2. Rizek P,
    3. Sadikovic B, et al

    . Movement disorders associated with hemochromatosis. Can J Neurol Sci 2016;43:801–08 doi:10.1017/cjn.2016.286] pmid:27827297

    CrossRefPubMed
41. 41.↵
    1. Daugherty A,
    2. Raz N

    . Age-related differences in iron content of subcortical nuclei observed in vivo: a meta-analysis. Neuroimage 2013;70:113–21 doi:10.1016/j.neuroimage.2012.12.040 pmid:23277110

    CrossRefPubMed
42. 42.
    1. Pfefferbaum A,
    2. Adalsteinsson E,
    3. Rohlfing T, et al

    . MRI estimates of brain iron concentration in normal aging: comparison of field-dependent (FDRI) and phase (SWI) methods. Neuroimage 2009;47:493–500 doi:10.1016/j.neuroimage.2009.05.006 pmid:19442747

    CrossRefPubMedWeb of Science
43. 43.↵
    1. Hallgren B,
    2. Sourander P

    . The effect of age on the non‐haemin iron in the human brain. J Neurochem 1958;3:41–51 doi:10.1111/j.1471-4159.1958.tb12607.x pmid:13611557

    CrossRefPubMedWeb of Science
44. 44.↵
    1. Langkammer C,
    2. Schweser F,
    3. Krebs N, et al

    . Quantitative susceptibility mapping (QSM) as a means to measure brain iron? A post mortem validation study. Neuroimage 2012;62:1593–99 doi:10.1016/j.neuroimage.2012.05.049 pmid:22634862

    CrossRefPubMed
45. 45.↵
    1. Liu M,
    2. Liu S,
    3. Ghassaban K, et al

    . Assessing global and regional iron content in deep gray matter as a function of age using susceptibility mapping. J Magn Reson Imaging 2016;44:59–71 doi:10.1002/jmri.25130 pmid:26695834

    CrossRefPubMed
46. 46.↵
    1. Acosta-Cabronero J,
    2. Betts MJ,
    3. Cardenas-Blanco A, et al

    . In vivo MRI mapping of brain iron deposition across the adult lifespan. J Neurosci 2016;36:364–74 doi:10.1523/JNEUROSCI.1907-15.2016 pmid:26758829

    Abstract/FREE Full Text
47. 47.↵
    1. Li Y,
    2. Sethi SK,
    3. Zhang C, et al

    . Iron content in deep gray matter as a function of age using quantitative susceptibility mapping: a multicenter study. Front Neurosci 2021;14:607705 doi:10.3389/fnins.2020.607705 pmid:33488350

    CrossRefPubMed
48. 48.↵
    1. Ghassaban K,
    2. He N,
    3. Sethi SK, et al

    . Regional high iron in the substantia nigra differentiates Parkinson’s disease patients from healthy controls. Front Aging Neurosci 2019;11:106 doi:10.3389/fnagi.2019.00106 pmid:31191294

    CrossRefPubMed
49. 49.↵
    1. Feng X,
    2. Deistung A,
    3. Reichenbach JR

    . Quantitative susceptibility mapping (QSM) and R₂* in the human brain at 3 T. Z Med Phys 2018;28:36–48 doi:10.1016/j.zemedi.2017.05.003 pmid:28601374

    CrossRefPubMed