Neurodegeneration with brain iron accumulation–clinical syndromes and neuroimaging
Open accessAbstract
Iron participates in a wide array of cellular functions and is essential for normal neural development and physiology. However, if inappropriately managed, the transition metal is capable of generating neurotoxic reactive oxygen species. A number of hereditary conditions perturb body iron homeostasis and some, collectively referred to as neurodegeneration with brain iron accumulation (NBIA), promote pathological deposition of the metal predominantly or exclusively within the central nervous system (CNS). In this article, we discuss seven NBIA disorders with emphasis on the clinical syndromes and neuroimaging. The latter primarily entails magnetic resonance scanning using iron-sensitive sequences. The conditions considered are Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, and neuroferritinopathy. An approach to differential diagnosis and the status of iron chelation therapy for several of these entities are presented. This article is part of a Special Issue entitled: Imaging Brain Aging and Neurodegenerative disease.
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In other rare genetic diseases of the neurodegeneration with brain iron accumulation group, mutations disrupt proteins with cellular functions different from iron metabolism, and the mechanisms that result in brain iron overload are undefined.
“In other rare genetic diseases of this group, such as pantothenate kinase-associated neurodegeneration, phospholipase A2G6-associated neurodegeneration, and Kufor-Rakeb disease, mutations disrupt proteins with cellular functions different from iron metabolism, and the mechanisms that result in brain iron overload are undefined.169–173”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [169]
Neurodegeneration with brain iron accumulation is associated with excess iron accumulation in deep grey matter nuclei.
“Neurodegeneration with brain iron accumulation is associated with excess iron accumulation in deep grey matter nuclei.169”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [169]
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Hentze, M. W., Muckenthaler, M. U., & Andrews, N. C. (2004) · Cell · doi:10.1016/s0092-8674(04)00343-5 · Cited by 1,736 · see citing works
Susceptibility weighted imaging (SWI)
Haacke, E. M., Xu, Y., Cheng, Y. N., & Reichenbach, J. R. (2004) · Magnetic Resonance in Medicine · doi:10.1002/mrm.20198 · Cited by 1,582 · see citing works
The effect of age on the non-haemin iron in the human brain
Hallgren, B., & Sourander, P. (1958) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1958.tb12607.x · Cited by 1,427 · see citing works
(2009) · Elsevier eBooks · doi:10.1016/c2009-1-03742-3 · Cited by 1,332 · see citing works
Ramirez, A., Heimbach, A., Gründemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1884 · Cited by 1,208 · see citing works
Susceptibility-Weighted Imaging: Technical Aspects and Clinical Applications, Part 1
Haacke, E. M., Mittal, S., Wu, Z., Neelavalli, J., & Cheng, Y. N. (2008) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1400 · Cited by 1,114 · see citing works
C ERULOPLASMIN M ETABOLISM AND F UNCTION
Hellman, N. E., & Gitlin, J. D. (2002) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.22.012502.114457 · Cited by 930 · see citing works
(2009) · doi:10.1007/978-3-540-29678-2 · Cited by 900 · see citing works
Chemistry and biology of eukaryotic iron metabolism
Aisen, P. (2001) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(01)00063-2 · Cited by 804 · see citing works
Susceptibility-Weighted Imaging: Technical Aspects and Clinical Applications, Part 2
Mittal, S., Wu, Z., Neelavalli, J., & Haacke, E. M. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1461 · Cited by 765 · see citing works
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
Zhou, B., Westaway, S. K., Levinson, B., Johnson, M., Gitschier, J. M., & Hayflick, S. J. (2001) · Nature Genetics · doi:10.1038/ng572 · Cited by 756 · see citing works
The molecular mechanisms of the metabolism and transport of iron in normal and neoplastic cells
Richardson, D. R., & Ponka, P. (1997) · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes · doi:10.1016/s0304-4157(96)00014-7 · Cited by 706 · see citing works
High-field MRI of brain cortical substructure based on signal phase
Duyn, J. H., van Gelderen, P., Li, T., de Zwart, J. A., Koretsky, A. P., & Fukunaga, M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610821104 · Cited by 641 · see citing works
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T., & Gitlin, J. D. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.7.2539 · Cited by 558 · see citing works
Arosio, P., & Levi, S. (2002) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(02)00842-0 · Cited by 543 · see citing works
Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics · doi:10.1038/ng571 · Cited by 537 · see citing works
Gitler, A. D., Chesi, A., Geddie, M. L., Strathearn, K. E., Hamamichi, S., Hill, K. J., Caldwell, K. A., Caldwell, G. A., Cooper, A. A., Rochet, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.300 · Cited by 535 · see citing works
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangül, H., Coryell, J. C., Canham, N. L. E., Nardocci, N., et al. (2006) · Nature Genetics · doi:10.1038/ng1826 · Cited by 532 · see citing works
Function and regulation of transferrin and ferritin.
Ponka, P., Beaumont, C., & Richardson, D. R. (1998) · PubMed · Cited by 524 · see citing works
Regulation of iron acquisition and storage: consequences for iron-linked disorders
De Domenico, I., McVey Ward, D., & Kaplan, J. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2295 · Cited by 464 · see citing works
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N. (1995) · Nature Genetics · doi:10.1038/ng0395-267 · Cited by 463 · see citing works
Iron trafficking inside the brain
Moos, T., Nielsen, T. R., Skjørringe, T., & Morgan, E. H. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04976.x · Cited by 421 · see citing works
Selective iron chelation in Friedreich ataxia: biologic and clinical implications
Boddaert, N., Le Quan Sang, K. H., Rötig, A., Leroy-Willig, A., Gallet, S., Brunelle, F., Sidi, D., Thalabard, J.-C., Munnich, A., & Cabantchik, Z. I. (2007) · Blood · doi:10.1182/blood-2006-12-065433 · Cited by 409 · see citing works
Brain ferritin iron may influence age- and gender-related risks of neurodegeneration
Bartzokis, G., Tishler, T. A., Lu, P. H., Villablanca, P. J., Altshuler, L. L., Carter, M., Huang, D., Edwards, N. J., & Mintz, J. (2006) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2006.02.005 · Cited by 343 · see citing works
High‐field magnetic resonance imaging of brain iron: birth of a biomarker?
Schenck, J. F., & Zimmerman, E. A. (2004) · NMR in Biomedicine · doi:10.1002/nbm.922 · Cited by 330 · see citing works
Patel, B. N., & David, S. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.32.20185 · Cited by 327 · see citing works
Neurodegeneration with brain iron accumulation
Hayflick, S. J., Kurian, M. A., & Hogarth, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00019-1 · Cited by 323 · see citing works
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
McNeill, A., Birchall, D., Hayflick, S. J., Gregory, A., Schenk, J. F., Zimmerman, E. A., Shang, H., Miyajima, H., & Chinnery, P. F. (2008) · Neurology · doi:10.1212/01.wnl.0000310985.40011.d6 · Cited by 305 · see citing works
Iron in Chronic Brain Disorders: Imaging and Neurotherapeutic Implications
Stankiewicz, J. M., Panter, S. S., Neema, M., Arora, A., Batt, C. E., & Bakshi, R. (2007) · Neurotherapeutics · doi:10.1016/j.nurt.2007.05.006 · Cited by 301 · see citing works
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
Miyajima, H., Nishimura, Y., Mimguchi, K., Sakamoto, M., Shimizu, T., & Honda, N. (1987) · Neurology · doi:10.1212/wnl.37.5.761 · Cited by 295 · see citing works
Neurodegeneration associated with genetic defects in phospholipase A 2
Gregory, A., Westaway, S. K., Holm, I. E., Kotzbauer, P. T., Hogarth, P., Sonek, S., Coryell, J. C., Nguyen, T. M., Nardocci, N., Zorzi, G. S., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000327094.67726.28 · Cited by 269 · see citing works
Haacke, E. M., Ayaz, M., Khan, A., Manova, E., Krishnamurthy, B., Gollapalli, L., Ciulla, C., Kim, I., Petersen, F. F., & Kirsch, W. M. (2007) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.22987 · Cited by 241 · see citing works
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
Kruer, M. C., Paisán‐Ruiz, C., Boddaert, N., Yoon, M. Y., Hama, H., Gregory, A., Malandrini, A., Woltjer, R. L., Münnich, A., Gobin, S., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22122 · Cited by 239 · see citing works
Balsinde, J., & Balboa, M. A. (2005) · Cellular Signalling · doi:10.1016/j.cellsig.2005.03.002 · Cited by 238 · see citing works
Antioxidant Treatment of Patients With Friedreich Ataxia
Hart, P. E., Lodi, R., Rajagopalan, B., Bradley, J. L., Crilley, J. G., Turner, C., Blamire, A. M., Manners, D. N., Styles, P., Schapira, A. H. V., et al. (2005) · Archives of Neurology · doi:10.1001/archneur.62.4.621 · Cited by 224 · see citing works
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
Al-Din, A. S. N., Wriekat, A., Mubaidin, A., Dasouki, M., & Hiari, M. A. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.1994.tb02645.x · Cited by 220 · see citing works
Edvardson, S., Hama, H., Shaag, A., Gomori, J. M., Berger, I., Soffer, D., Korman, S. H., Taustein, I., Saada, A., & Elpeleg, O. N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.010 · Cited by 218 · see citing works
Fatty acid 2-Hydroxylation in mammalian sphingolipid biology
Hama, H. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2009.12.004 · Cited by 216 · see citing works
Pandolfo, M. (2008) · Archives of Neurology · doi:10.1001/archneur.65.10.1296 · Cited by 206 · see citing works
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., et al. (2006) · Brain · doi:10.1093/brain/awl319 · Cited by 205 · see citing works
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
Dick, K. J., Eckhardt, M., Paisán‐Ruiz, C., Al‐Khayat, A., Proukakis, C., Sibtain, N. A., Maier, H., Sharifi, R., Patton, M. A., Bashir, W., et al. (2010) · Human Mutation · doi:10.1002/humu.21205 · Cited by 201 · see citing works
The Cardiomyopathy of Friedreich's Ataxia Morphological Observations in 3 Cases
Lamarche, J. B., Côté, M., & Lemieux, B. (1980) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100022927 · Cited by 189 · see citing works
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Schneider, S. A., Paisán‐Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., & Bhatia, K. P. (2010) · Movement Disorders · doi:10.1002/mds.22947 · Cited by 189 · see citing works
Iron metabolism in Parkinsonian syndromes
Berg, D., & Hochstrasser, H. (2006) · Movement Disorders · doi:10.1002/mds.21020 · Cited by 185 · see citing works
MR evaluation of age-related increase of brain iron in young adult and older normal males
Bartzokis, G., Beckson, M., Hance, D. B., Marx, P., Foster, J., & Marder, S. R. (1997) · Magnetic Resonance Imaging · doi:10.1016/s0730-725x(96)00234-2 · Cited by 181 · see citing works
Brain iron deposition and the free radical-mitochondrial theory of ageing
Schipper, H. M. (2004) · Ageing Research Reviews · doi:10.1016/j.arr.2004.02.001 · Cited by 177 · see citing works
Cherubini, A., Péran, P., Caltagirone, C., Sabatini, U., & Spalletta, G. (2009) · NeuroImage · doi:10.1016/j.neuroimage.2009.06.035 · Cited by 173 · see citing works
Field dependent transverse relaxation rate increase may be a specific measure of tissue iron stores
Bartzokis, G., Aravagiri, M., Oldendorf, W. H., Mintz, J., & Marder, S. R. (1993) · Magnetic Resonance in Medicine · doi:10.1002/mrm.1910290406 · Cited by 172 · see citing works
Pfefferbaum, A., Elfar Adalsteinsson, A., Torsten Rohlfing, B., & Sullivan, E. V. (2009) · NeuroImage · doi:10.1016/j.neuroimage.2009.05.006 · Cited by 165 · see citing works
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14 -linked parkinsonism
Yoshino, H., Tomiyama, H., Tachibana, N., Ogaki, K., Li, Y., Funayama, M., Hashimoto, T., Takashima, S., & Hattori, N. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f73649 · Cited by 165 · see citing works
Perry, T. L., Norman, M. G., Yong, V. W., Whiting, S. E., Crichton, J. U., Hansen, S., & Kish, S. J. (1985) · Annals of Neurology · doi:10.1002/ana.410180411 · Cited by 164 · see citing works
INFANTILE NEUROAXONAL DYSTROPHY
Aicardi, J. F., & CASTELEIN, P. (1979) · Brain · doi:10.1093/brain/102.4.727 · Cited by 162 · see citing works
Vidal, R., Ghetti, B. F., Takao, M., Brefel‐Courbon, C., Uro‐Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., et al. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.4.363 · Cited by 161 · see citing works
Hereditary Ferritinopathy: A Novel Mutation, Its Cellular Pathology, and Pathogenetic Insights
Mancuso, M., Davidzon, G., Kurlan, R., Tawil, R., Bonilla, E., Mauro, S. D., & Powers, J. M. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.4.280 · Cited by 146 · see citing works
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia
Velasco‐Sanchez, D., Aracil, A., Montero, R., Mas, A., Jiménez, L., O’Callaghan, M., Tondo, M., Capdevila, A., Blanch, J., Artuch, R., et al. (2010) · The Cerebellum · doi:10.1007/s12311-010-0212-7 · Cited by 144 · see citing works
Brain iron homeostasis and neurodegenerative disease
Benarroch, E. E. (2009) · Neurology · doi:10.1212/wnl.0b013e3181a26b30 · Cited by 143 · see citing works
Jin, L., Wang, J., Zhao, L., Jin, H., Fei, G., Zhang, Y., Zeng, M., & Zhong, C. (2010) · Brain · doi:10.1093/brain/awq319 · Cited by 129 · see citing works
Metals and Oxidative Damage in Neurological Disorders
Connor, J. (1997) · Springer US · doi:10.1007/978-1-4899-0197-2 · Cited by 124 · see citing works
Hayflick, S. J. (2003) · Current Opinion in Pediatrics · doi:10.1097/00008480-200312000-00005 · Cited by 119 · see citing works
Johnson, M., Kuo, Y. M., Westaway, S. K., Parker, S. M., Ching, K. H. L., Gitschier, J. M., & Hayflick, S. J. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1306.023 · Cited by 112 · see citing works
Hereditary ceruloplasmin deficiency with hemosiderosis
Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z., & Wada, Y. (1996) · Human Genetics · doi:10.1007/bf02346185 · Cited by 112 · see citing works
van der Knaap, M. S., Valk, J., de Neeling, N., & Nauta, J. J. P. (1991) · Neuroradiology · doi:10.1007/bf00588038 · Cited by 109 · see citing works
HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration
Ching, K. H. L., Westaway, S. K., Gitschier, J. M., Higgins, J. J., & Hayflick, S. J. (2002) · Neurology · doi:10.1212/wnl.58.11.1673 · Cited by 106 · see citing works
Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis
Hayflick, S. J. (2006) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2006.08.007 · Cited by 102 · see citing works
Hallervorden-Spatz disease: MR and pathologic findings.
Savoiardo, M., HALLIDAY, W. C., Nardocci, N., Strada, L., D’Incerti, L., Angelini, L., Rumi, V., & Tesoro-Tess, J. D. (1993) · PubMed Central · Cited by 92 · see citing works
Recessively Inherited Parkinsonism
Brüggemann, N., Hagenah, J. M., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bähre, M., Münchau, A. M., Djarmati, A., et al. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.281 · Cited by 90 · see citing works
Yonekawa, M., Okabe, T., Asamoto, Y., & Ohta, M. (1999) · European Neurology · doi:10.1159/000008091 · Cited by 89 · see citing works
Voxel‐based analysis of R2* maps in the healthy human brain
Péran, P., Hagberg, G. E., Luccichenti, G., Cherubini, A., Brainovich, V., Celsis, P., Caltagirone, C., & Sabatini, U. (2007) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.21204 · Cited by 88 · see citing works
Swaiman, K. F. (2001) · Pediatric Neurology · doi:10.1016/s0887-8994(01)00253-3 · Cited by 88 · see citing works
Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation
Levi, S., Cozzi, A., & Arosio, P. (2005) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2004.08.021 · Cited by 84 · see citing works
Stereotactic pallidotomy in a child with Hallervorden—Spatz disease
Justesen, C. R., Penn, R. D., Kroin, J. S., & Egel, R. T. (1999) · Journal of neurosurgery · doi:10.3171/jns.1999.90.3.0551 · Cited by 84 · see citing works
Palatal tremor and cognitive decline in neuroferritinopathy
Wills, A. J. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.73.1.91 · Cited by 80 · see citing works
Iron-dependent functions of mitochondria—relation to neurodegeneration
Gille, G., & Reichmann, H. (2010) · Journal of Neural Transmission · doi:10.1007/s00702-010-0503-7 · Cited by 77 · see citing works
Complicated recessive dystonia parkinsonism syndromes
Schneider, S. A., Bhatia, K. P., & Hardy, J. (2009) · Movement Disorders · doi:10.1002/mds.22314 · Cited by 75 · see citing works
Iron chelation and neuroprotection in neurodegenerative diseases
Li, X., Jankovic, J. J., & Le, W. (2010) · Journal of Neural Transmission · doi:10.1007/s00702-010-0518-0 · Cited by 75 · see citing works
Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments
Babady, N. E., Carelle, N., Wells, R. D., Rouault, T. A., Hirano, M., Lynch, D. R., Delatycki, M. B., Wilson, R. B., Isaya, G., & Puccio, H. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.05.009 · Cited by 73 · see citing works
The copper-iron connection: Hereditary aceruloplasminemia
Nittis, T., & Gitlin, J. D. (2002) · Seminars in Hematology · doi:10.1053/shem.2002.35633 · Cited by 73 · see citing works
Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia
Becker, E., & Richardson, D. R. (2001) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(00)00067-4 · Cited by 71 · see citing works
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation
Miyajima, H., Kono, S., Takahashi, Y., Sugimoto, M., Sakamoto, M., & Sakai, N. (2001) · Neurology · doi:10.1212/wnl.57.12.2205 · Cited by 70 · see citing works
Neuroferritinopathy in a French family with late onset dominant dystonia
Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D. E., Curtis, A., Lombès, A., & Burn, J. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e69 · Cited by 69 · see citing works
Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
Fasano, A. A., Colosimo, C., Miyajima, H., Tonali, P. A., Re, T. J., & Bentivoglio, A. R. (2008) · Movement Disorders · doi:10.1002/mds.21938 · Cited by 62 · see citing works
Iron Dysregulation in Friedreich Ataxia
Wilson, R. B. (2006) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2006.08.005 · Cited by 59 · see citing works
Sea‐blue histiocytes, lymphocytic cytosomes, movement disorder and 59 Fe‐uptake in basal ganglia
Swaiman, K. F., Smith, S. A., Trock, G. L., & Siddiqui, A. R. (1983) · Neurology · doi:10.1212/wnl.33.3.301 · Cited by 57 · see citing works
The neuropsychiatry of neuroacanthocytosis syndromes
Walterfang, M., Evans, A. H., Looi, J. C., Jung, H. H., Danek, A., Walker, R. H., & Velakoulis, D. (2011) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2011.01.001 · Cited by 57 · see citing works
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
Mubaidin, A., Roberts, E., Hampshire, D., Dehyyat, M., Shurbaji, A., Mubaidien, M., Jamil, A., Al-Din, A., Kurdi, A., & Woods, C. G. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.543 · Cited by 57 · see citing works
Daimon, M., Kato, T., Kawanami, T., Tominaga, M., Igarashi, M., Yamatani, K., & Sasaki, H. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.2749 · Cited by 52 · see citing works
Friedreich's Ataxia: Clinical Aspects and Pathogenesis
Pandolfo, M. (1999) · Seminars in Neurology · doi:10.1055/s-2008-1040847 · Cited by 49 · see citing works
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
Hellier, K. D. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.1.65 · Cited by 48 · see citing works
Magnetic resonance imaging of dystonic states.
Rutledge, J. N., Hilal, S. K., Aj, S., Defendini, R., & Fahn, S. (1988) · PubMed · Cited by 48 · see citing works
Johnstone, D. M., & Milward, E. A. (2010) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2010.06697.x · Cited by 44 · see citing works
Burn, J., & Chinnery, P. F. (2006) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2006.08.006 · Cited by 44 · see citing works
NEUROLOGIC IMPAIRMENT DUE TO VITAMIN E AND COPPER DEFICIENCIES IN CELIAC DISEASE
Henri‐Bhargava, A., Melmed, C., Glikstein, R. S., & Schipper, H. M. (2008) · Neurology · doi:10.1212/01.wnl.0000325473.13088.18 · Cited by 41 · see citing works
Seo, J., Song, S.-K., & Lee, P. H. (2009) · Journal of Clinical Neurology · doi:10.3988/jcn.2009.5.4.192 · Cited by 38 · see citing works
Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron
Yoon, S. J., Koh, Y. H., Floyd, R. A., & Park, J.-W. (2000) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(00)00005-1 · Cited by 37 · see citing works
Schr�der, J. M. (2005) · Acta Neuropathologica · doi:10.1007/s00401-004-0949-5 · Cited by 36 · see citing works
Iron deficiency and overload : from basic biology to clinical medicine
Yehuda, S., & Mostofsky, D. I. (2010) · DIAL (Catholic University of Leuven) · doi:10.1007/978-1-59745-462-9 · Cited by 34 · see citing works
Transcranial Sonography in Brain Disorders with Trace Metal Accumulation
Walter, U. (2010) · International review of neurobiology · doi:10.1016/s0074-7742(10)90012-3 · Cited by 34 · see citing works
Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis
Vasconcelos, O. M., Harter, D. H., Duffy, C., McDonough, B. A., Seidman, J. G., Seidman, C. E., & Campbell, W. W. (2003) · Muscle & Nerve · doi:10.1002/mus.10389 · Cited by 28 · see citing works
New Developments in Hereditary Hemochromatosis
Felitti, V. J., & Beutler, E. (1999) · The American Journal of the Medical Sciences · doi:10.1016/s0002-9629(15)40629-9 · Cited by 26 · see citing works
Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome
Zupanc, M. L., Chun, R. W. M., & Gilbert‐Barness, E. (1990) · Pediatric Neurology · doi:10.1016/0887-8994(90)90030-5 · Cited by 25 · see citing works
Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome
Mak, C. M., Sheng, B., Lee, H. H., Lau, K.-K., Chan, W.-T., Lam, C., & Chan, Y.-W. (2011) · International Journal of Neuroscience · doi:10.3109/00207454.2010.542843 · Cited by 22 · see citing works
Restless legs syndrome in Friedreich ataxia: A polysomnographic study
Frauscher, B., Hering, S., Högl, B., Gschliesser, V., Ulmer, H., Poewe, W. H., & Boesch, S. (2010) · Movement Disorders · doi:10.1002/mds.22769 · Cited by 21 · see citing works
Metals and Oxidative Damage in Neurological Disorders
Stephans, S. E. (1998) · Neurology · doi:10.1212/wnl.51.3.930 · Cited by 18 · see citing works
Rump, P., Lemmink, H. H., Verschuuren‐Bemelmans, C. C., Grootscholten, P. M., Fock, J. M., Hayflick, S. J., Westaway, S. K., Vos, Y. J., & van Essen, A. J. (2005) · Neurogenetics · doi:10.1007/s10048-005-0018-9 · Cited by 18 · see citing works
Hernández, M. C. V., Jeong, T. H., Murray, C. L., Bastin, M. E., Chappell, F. M., Deary, I. J., & Wardlaw, J. M. (2010) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.22361 · Cited by 16 · see citing works
New Developments in Hereditary Hemochromatosis
Felitti, V. J., & Beutler, E. (1999) · The American Journal of the Medical Sciences · doi:10.1097/00000441-199910000-00005 · Cited by 15 · see citing works
Striatal and pontocerebellar hypoperfusion in Hallervorden-Spatz syndrome
Castelnau, P., Zilbovicius, M., Ribeiro, M. J., Hertz‐Pannier, L., de Baulny, H. O., & Evrard, P. (2001) · Pediatric Neurology · doi:10.1016/s0887-8994(01)00295-8 · Cited by 14 · see citing works
Reliability of two techniques for assessing cerebral iron deposits from structural MRI
Hernández, M. C. V., Jeong, T. H., Murray, C. L., Bastin, M. E., Chappell, F. M., Deary, I. J., & Wardlaw, J. M. (2011) · ERA · doi:10.1002/jmri.22361/abstract · Cited by 12 · see citing works
Neurodegeneration with brain iron accumulation
Kabra, U. (2023) · Radiopaedia.org · doi:10.53347/rid-171057 · Cited by 11 · see citing works
Inherited Disorders of Brain Iron Homeostasis
Schipper, H. M., & Ponka, P. (2009) · Humana Press eBooks · doi:10.1007/978-1-59745-462-9_15 · Cited by 7 · see citing works
Waldvogel (1999) · doi:10.1002/1531-8249(199907)46:1
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The role of iron in brain ageing and neurodegenerative disorders
Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R., & Zecca, L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70117-6 · Cited by 1,819 · see citing works
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Galaris, D., Barbouti, A., & Pantopoulos, K. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2019.118535 · Cited by 922 · see citing works
Metals, oxidative stress and neurodegeneration: A focus on iron, manganese and mercury
Farina, M., Ávila, D. S., da Rocha, J. B. T., & Aschner, M. (2012) · Neurochemistry International · doi:10.1016/j.neuint.2012.12.006 · Cited by 558 · see citing works
Iron in Neurodegeneration – Cause or Consequence?
Ndayisaba, A., Kaindlstorfer, C., & Wenning, G. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00180 · Cited by 271 · see citing works
Eid, R., Arab, N. T. T., & Greenwood, M. T. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2016.12.002 · Cited by 286 · see citing works
Wilson, G. R. A., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.015 · Cited by 273 · see citing works
Contributions to magnetic susceptibility of brain tissue
Duyn, J. H., & Schenck, J. F. (2016) · NMR in Biomedicine · doi:10.1002/nbm.3546 · Cited by 214 · see citing works
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Schipper, H. M., Song, W., Tavitian, A., & Cressatti, M. (2018) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2018.06.008 · Cited by 202 · see citing works
Iron dysregulation in movement disorders
Dušek, P., Jankovic, J. J., & Le, W. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.054 · Cited by 172 · see citing works
Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders
Mena, N. P., Urrutia, P. J., Lourido, F., Carrasco, C. M., & Núñez, M. T. (2015) · Mitochondrion · doi:10.1016/j.mito.2015.02.001 · Cited by 154 · see citing works
Appraising the Role of Iron in Brain Aging and Cognition: Promises and Limitations of MRI Methods
Daugherty, A. M., & Raz, N. (2015) · Neuropsychology Review · doi:10.1007/s11065-015-9292-y · Cited by 131 · see citing works
Imaging in sepsis-associated encephalopathy—insights and opportunities
Stubbs, D. J., Yamamoto, A. K., & Menon, D. K. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.177 · Cited by 118 · see citing works
The aging brain: impact of heavy metal neurotoxicity
Ijomone, O. M., Ifenatuoha, C. W., Aluko, O. M., Ijomone, O. K., & Aschner, M. (2020) · Critical Reviews in Toxicology · doi:10.1080/10408444.2020.1838441 · Cited by 116 · see citing works
Schröder, N., Figueiredo, L. S., & de Lima, M. N. M. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-121996 · Cited by 113 · see citing works
The Relevance of Metals in the Pathophysiology of Neurodegeneration, Pathological Considerations
Jellinger, K. A. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-410502-7.00002-8 · Cited by 99 · see citing works
Gillen, K. M., Mubarak, M., Nguyen, T. D., & Pitt, D. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00255 · Cited by 88 · see citing works
Heme oxygenase in neuroprotection: from mechanisms to therapeutic implications
Chen, J. (2014) · Reviews in the Neurosciences · doi:10.1515/revneuro-2013-0046 · Cited by 85 · see citing works
Patassini, S., Begley, P., Xu, J., Church, S. J., Kureishy, N., Reid, S. J., Waldvogel, H. J., Faull, R. L. M., Snell, R. G., Unwin, R. D., et al. (2019) · Metabolites · doi:10.3390/metabo9060113 · Cited by 79 · see citing works
Chen, W. C., Foxley, S., & Miller, K. L. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2012.12.032 · Cited by 79 · see citing works
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Ramsay, R. R., Májeková, M., Medina, M., & Valoti, M. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00375 · Cited by 74 · see citing works
Mechanisms of divalent metal toxicity in affective disorders
Menon, A. V., Chang, J., & Kim, J. (2015) · Toxicology · doi:10.1016/j.tox.2015.11.001 · Cited by 74 · see citing works
Brain biometals and Alzheimer's disease – boon or bane?
Prakash, A. K., Dhaliwal, G. K., Kumar, P., & Majeed, A. B. A. (2016) · International Journal of Neuroscience · doi:10.3109/00207454.2016.1174118 · Cited by 70 · see citing works
Neurobehavioural Toxicity of Iron Oxide Nanoparticles in Mice
Vasanth, D., Manickam, V., & Perumal, E. (2017) · Neurotoxicity Research · doi:10.1007/s12640-017-9721-1 · Cited by 66 · see citing works
Pantothenate Kinase-Associated Neurodegeneration
Hartig, M., Prokisch, H., Meitinger, T., & Klopstock, T. (2012) · Current Drug Targets · doi:10.2174/138945012802002384 · Cited by 63 · see citing works
Dušek, P., Dezortová, M., & Wuerfel, J. T. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-410502-7.00010-7 · Cited by 60 · see citing works
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Jiang, R., Hua, C., Wan, Y., Jiang, B., Hu, H., Zheng, J., Fuqua, B. K., Dunaief, J. L., Anderson, G. J., David, S., et al. (2015) · Journal of Nutrition · doi:10.3945/jn.114.207316 · Cited by 60 · see citing works
Jaberi, E., Rohani, M., Shahidi, G., Nafissi, S., Arefian, E., Soleimani, M., Rasooli, P., Ahmadieh, H., Daftarian, N., KaramiNejadRanjbar, M., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.10.034 · Cited by 55 · see citing works
Campanella, A., Privitera, D., Guaraldo, M., Rovelli, E., Barzaghi, C., Garavaglia, B., Santambrogio, P., Cozzi, A., & Levi, S. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds229 · Cited by 52 · see citing works
Zhu, Y., Wang, B., Tao, K., Yang, H., Wang, Y., Zhou, T., Yang, Y., Yuan, L., Liu, X., & Duan, Y. (2017) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2017.01.003 · Cited by 51 · see citing works
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Duyn, J. H. (2017) · NeuroImage · doi:10.1016/j.neuroimage.2017.02.046 · Cited by 51 · see citing works
Colombelli, C., Aoun, M., & Tiranti, V. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9770-z · Cited by 50 · see citing works
Song, W., Cressatti, M., Zukor, H., Liberman, A., Galindez, C., & Schipper, H. M. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.06.017 · Cited by 50 · see citing works
Burgetová, R., Dušek, P., Burgetová, A., Pudlač, A., Vaněčková, M., Horáková, D., Krásenský, J., Varga, Z., & Lambert, L. (2021) · Quantitative Imaging in Medicine and Surgery · doi:10.21037/qims-21-87 · Cited by 49 · see citing works
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do Amaral, L. L. F., Gaddikeri, S., Chapman, P. R., Roy, R., Gaddikeri, R. S., Marussi, V. H. R., & Bag, A. K. (2014) · Journal of Neuroimaging · doi:10.1111/jon.12195 · Cited by 46 · see citing works
Aoun, M., & Tiranti, V. (2015) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2015.01.018 · Cited by 46 · see citing works
Iron in neurodegenerative disorders: being in the wrong place at the wrong time?
Apostolakis, S., & Kypraiou, A.-M. (2017) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0020 · Cited by 46 · see citing works
Li, J., Zhang, Q., Che, Y., Zhang, N., & Guo, L. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.611891 · Cited by 43 · see citing works
Chen, Z., Jiang, R., Chen, M., Zheng, J., Chen, M., Braidy, N., Liu, S., Liu, G., Maimaitiming, Z., Shen, T., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-46019-9 · Cited by 45 · see citing works
Cognitive Implications of Deep Gray Matter Iron in Multiple Sclerosis
Fujiwara, E., Kmech, J. A., Cobzaş, D., Sun, H., Seres, P., Blevins, G., & Wilman, A. H. (2017) · American Journal of Neuroradiology · doi:10.3174/ajnr.a5109 · Cited by 39 · see citing works
Neurodegeneration with brain iron accumulation
Dusek, P., & Schneider, S. A. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283550cac · Cited by 39 · see citing works
Susceptibility-weighted imaging in pediatric neuroimaging
Bosemani, T., Poretti, A., & Huisman, T. A. G. M. (2013) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.24410 · Cited by 38 · see citing works
Alterations of Bio-elements, Oxidative, and Inflammatory Status in the Zinc Deficiency Model in Rats
Doboszewska, U., Szewczyk, B., Sowa-Kućma, M., Noworyta, K., Misztak, P., Gołębiowska, J., Młyniec, K., Ostachowicz, B., Krośniak, M., Wojtanowska-Krośniak, A., et al. (2015) · Neurotoxicity Research · doi:10.1007/s12640-015-9571-7 · Cited by 38 · see citing works
Striatal iron content is linked to reduced fronto-striatal brain function under working memory load
Rodrigue, K. M., Daugherty, A. M., Foster, C. M., & Kennedy, K. M. (2020) · NeuroImage · doi:10.1016/j.neuroimage.2020.116544 · Cited by 37 · see citing works
Giacopo, R. D., Cianetti, L., Caputo, V., Torraca, I. L., Piemonte, F., Ciolfi, A., Petrucci, S., Carta, C., Mariotti, P., Leuzzi, V., et al. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.05.021 · Cited by 34 · see citing works
Cortical pencil lining in neuroferritinopathy: A diagnostic clue
Batla, A., Adams, M. E., Erro, R., Ganos, C., Balint, B., Mencacci, N. E., & Bhatia, K. P. (2015) · Neurology · doi:10.1212/wnl.0000000000001511 · Cited by 34 · see citing works
Wang, B., Bao, S., Zhang, Z., Zhou, X., Wang, J., Fan, Y., Zhang, Y., Li, Y., Chen, L., Jia, Y., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.03.006 · Cited by 31 · see citing works
Zheng, J., Jiang, R., Chen, M., Maimaitiming, Z., Wang, J., Anderson, G. J., Vulpe, C. D., Dunaief, J. L., & Chen, H. (2018) · Journal of Nutrition · doi:10.1093/jn/nxy012 · Cited by 31 · see citing works
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Hayflick, S. J. (2005) · CRC Press eBooks · doi:10.1201/b14120-53 · Cited by 31 · see citing works
Metal Ion Toxins and Brain Aquaporin-4 Expression: An Overview
Ximenes-da-Silva, A. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00233 · Cited by 29 · see citing works
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Soares, F. A. A., Fagundez, D. A., & Ávila, D. S. (2017) · Advances in neurobiology · doi:10.1007/978-3-319-60189-2_18 · Cited by 29 · see citing works
Akintunde, J. K., & Oboh, G. (2015) · Environmental Science and Pollution Research · doi:10.1007/s11356-015-5327-4 · Cited by 28 · see citing works
Ghaderi, S., Mohammadi, S., Nezhad, N. J., Karami, S., & Sayehmiri, F. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1338891 · Cited by 27 · see citing works
Smith, F. M., & Kosman, D. J. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.569293 · Cited by 27 · see citing works
Virel, A., Faergemann, E., Orädd, G., & Strömberg, I. (2014) · PLoS ONE · doi:10.1371/journal.pone.0112941 · Cited by 24 · see citing works
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder
Brady, J. M., Trehan, A., Landis, D. M. D., & Toro, C. (2013) · BMJ Case Reports · doi:10.1136/bcr-2013-009592 · Cited by 24 · see citing works
Guo, S., Yang, L., Liu, H., Chen, W., Li, J., Yu, P., Sun, Z. S., Chen, X. '., Du, J., & Cai, T. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9991-2 · Cited by 23 · see citing works
Figueiredo, L. S., de Freitas, B. S., Garcia, V. A., Dargél, V. A., Köbe, L. M., Kist, L. W., Bogo, M. R., & Schröder, N. (2015) · Molecular Neurobiology · doi:10.1007/s12035-015-9514-6 · Cited by 23 · see citing works
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Troadec, M., Loréal, O., & Brissot, P. (2017) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2017.09.002 · Cited by 23 · see citing works
Behavioral and dopaminergic damage induced by acute iron toxicity in Caenorhabditis elegans
Fagundez, D. A., Câmara, D. F., Salgueiro, W. G., Noremberg, S., Puntel, R. L., Piccoli, J. D. C. E., García, S. C., da Rocha, J. B. T., Aschner, M., & Ávila, D. S. (2015) · Toxicology Research · doi:10.1039/c4tx00120f · Cited by 23 · see citing works
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
Razmeh, S., Habibi, A. H., Orooji, M., Alizadeh, E., Moradian-Kokhdan, K., & Razmeh, B. (2018) · Neurology International · doi:10.4081/ni.2018.7516 · Cited by 22 · see citing works
Ferroptosis and cognitive impairment: Unraveling the link and potential therapeutic targets
Naderi, S., Khodagholi, F., Janahmadi, M., Motamedi, F., Torabi, A., Batool, Z., Heydarabadi, M. F., & Pourbadie, H. G. (2024) · Neuropharmacology · doi:10.1016/j.neuropharm.2024.110210 · Cited by 22 · see citing works
Bergsland, N., Agostini, S., Laganà, M. M., Mancuso, R., Mendozzi, L., Tavazzi, E., Cecconi, P., Clerici, M., & Baglio, F. (2017) · Neuroreport · doi:10.1097/wnr.0000000000000804 · Cited by 21 · see citing works
CCSVI and MS: no meaning, no fact
Baracchini, C., Atzori, M., & Gallo, P. (2012) · Neurological Sciences · doi:10.1007/s10072-012-1101-2 · Cited by 20 · see citing works
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Marchand, F., Moreau, C., Kuchcinski, G., Huin, V., Defebvre, L., & Devos, D. (2022) · Movement Disorders · doi:10.1002/mds.29145 · Cited by 18 · see citing works
Sheikh, N. A., Desai, T. R., & Tirgar, P. (2017) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2017.02.079 · Cited by 18 · see citing works
Elevated Brain Iron in Cocaine Use Disorder as Indexed by Magnetic Field Correlation Imaging
Adisetiyo, V., McGill, C., DeVries, W. H., Jensen, J. H., Hanlon, C. A., & Helpern, J. A. (2018) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2018.11.006 · Cited by 17 · see citing works
Cascone, A., Calabro, F. J., Foran, W., Larsen, B., Nugiel, T., Parr, A. C., Tervo‐Clemmens, B., Luna, B., & Cohen, J. R. (2023) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2023.101274 · Cited by 17 · see citing works
Soladogun, A. S., & Li, Z. (2024) · Antioxidants · doi:10.3390/antiox13121441 · Cited by 16 · see citing works
Mapping the human brainstem: Brain nuclei and fiber tracts at 3 T and 7 T
Straub, S., Knowles, B. R., Flassbeck, S., Steiger, R., Ladd, M. E., & Gizewski, E. R. (2019) · NMR in Biomedicine · doi:10.1002/nbm.4118 · Cited by 16 · see citing works
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Hermann, E. R., Chambers, E., Davis, D. N., Montgomery, M. R., Lin, D., & Chowanadisai, W. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.647946 · Cited by 16 · see citing works
Qu, Y., Li, N., Xu, M., Zhang, D., Xie, J., & Wang, J. (2022) · Neurochemical Research · doi:10.1007/s11064-022-03658-1 · Cited by 16 · see citing works
Agarwal, R., Adhikary, S., Bhattacharya, S., Goswami, S., Roy, D., Dutta, S., Ganguly, A., Nanda, S., & Rajak, P. (2024) · Environmental Science Advances · doi:10.1039/d4va00062e · Cited by 17 · see citing works
Large scale expression and purification of secreted mouse hephaestin
Deshpande, C. N., Xin, V., Lu, Y., Savage, T., Anderson, G. J., & Jormakka, M. (2017) · PLoS ONE · doi:10.1371/journal.pone.0184366 · Cited by 14 · see citing works
Luo, J., & Collingwood, J. F. (2022) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2022.109708 · Cited by 13 · see citing works
Practical approach to syndromic pediatric retinal dystrophies
Sadagopan, K. A. (2017) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000404 · Cited by 13 · see citing works
Therapeutic applications of chelating drugs in iron metabolic disorders of the brain and retina
Shahandeh, A., Bui, B. V., Finkelstein, D. I., & Nguyen, C. T. O. (2020) · Journal of Neuroscience Research · doi:10.1002/jnr.24685 · Cited by 13 · see citing works
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Świątczak, M., Młodziński, K., Sikorska, K., Raczak, A., Lipiński, P., & Daniłowicz‐Szymanowicz, L. (2022) · Diagnostics · doi:10.3390/diagnostics12092057 · Cited by 12 · see citing works
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Mulroy, E., Stamelou, M., & Bhatia, K. P. (2019) · International review of neurobiology · doi:10.1016/bs.irn.2019.10.001 · Cited by 11 · see citing works
Trentini, A., Castellazzi, M., Romani, A., Squerzanti, M., Baldi, E., Caniatti, L. M., Pugliatti, M., Granieri, E., Fainardi, E., Bellini, T., et al. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.04.021 · Cited by 10 · see citing works
Ladol, S., & Sharma, D. (2021) · Epilepsy Research · doi:10.1016/j.eplepsyres.2021.106695 · Cited by 10 · see citing works
Heidelberg, D., Ronsin, S., Bonneville, F., Hannoun, S., Tilikete, C., & Cotton, F. (2018) · Journal of Neuroradiology · doi:10.1016/j.neurad.2018.05.005 · Cited by 10 · see citing works
Hisano, T., Okada, J., Tsuda, K., Iwata, S., Saitoh, S., & Iwata, O. (2023) · Scientific Reports · doi:10.1038/s41598-023-35404-0 · Cited by 9 · see citing works
Mineral Composition of and the Relationships Between Them of Human Basal Ganglia in Very Old Age
Tohno, Y., Tohno, S., Azuma, C., Minami, T., Ke, L., Ongkana, N., Sinthubua, A., & Mahakkanukrauh, P. (2012) · Biological Trace Element Research · doi:10.1007/s12011-012-9535-1 · Cited by 9 · see citing works
Mitochondrial protein associated neurodegeneration – Case report
Kłysz, B., Skowrońska, M., & Kmieć, T. (2014) · Neurologia i Neurochirurgia Polska · doi:10.1016/j.pjnns.2013.09.002 · Cited by 9 · see citing works
Mao, H., Dou, W., Wang, X., Chen, K., Wang, X., Guo, Y., & Zhang, C. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2021.785822 · Cited by 8 · see citing works
Oh, I. H., Choi, E. Y., Park, J.-S., & Lee, C. H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153624 · Cited by 8 · see citing works
Bildgebende Verfahren in der Psychiatrie
Meisenzahl, E. M., Volz, H., & Dorn, F. (2016) · Springer eBooks · doi:10.1007/978-3-642-45028-0_29-1 · Cited by 8 · see citing works
Two unusual cases of PLA2G6-associated neurodegeneration from India
Kulkarni, S., Garg, M., Sayed, R., & Patil, V. A. (2015) · Annals of Indian Academy of Neurology · doi:10.4103/0972-2327.168641 · Cited by 7 · see citing works
Magnetic resonance signal processing tool for diagnostic classification
Suleimanov, Y., Radchenko, S. P., Lefterov, O., Нетреба, А. В., Vasnyov, S., Sava, V., Sanchez‐Ramos, J., Prockop, L. D., & Duara, R. (2016) · IEEE International Conference on Electronics and Nanotechnology (ELNANO) · doi:10.1109/elnano.2016.7493042 · Cited by 6 · see citing works
Neurodegeneration with Brain Iron Accumulation
Schipper, D. A., & Schipper, H. M. (2025) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-92033-2_19 · Cited by 5 · see citing works
Deferoxamine blocks death induced by glutathione depletion in PC 12 cells
Chouraqui, E., Léon, A., Repessé, Y., Prigent‐Tessier, A., Bouhallab, S., Bouglé, D. L., Marie, C., & Duval, D. (2013) · NeuroToxicology · doi:10.1016/j.neuro.2013.04.013 · Cited by 5 · see citing works
Natural Iron Chelators as Potential Therapeutic Agents for the Treatment of Iron Overload Diseases
Sheikh, N. W. A., Kosalge, S. B., Desai, T. R., Dewani, A. P., Mohale, D., & Tripathi, A. S. (2021) · IntechOpen eBooks · doi:10.5772/intechopen.98749 · Cited by 5 · see citing works
Neurodegeneration with Brain Iron Accumulation
Nardocci, N., Cavallera, V., Chiapparini, L., & Zorzi, G. S. (2014) · Springer eBooks · doi:10.1007/978-1-4471-6455-5_10 · Cited by 5 · see citing works
Habibi, S. A. H., Razmeh, S., Aryani, O., Rohani, M., Taghavian, L., Alizadeh, E., Kokhedan, K. M., & Zaribafian, M. (2019) · Neurology International · doi:10.4081/ni.2019.7959 · Cited by 5 · see citing works
Cortical pencil lining on SWI MRI in NBIA and healthy aging
van der Weijden, M. C. M., van Laar, P. J., Lambrechts, R. A., Verbeek, D. S., & Tijssen, M. A. J. (2019) · BMC Neurology · doi:10.1186/s12883-019-1471-7 · Cited by 5 · see citing works
Hope, S., Johannessen, C. H., Aanonsen, N. O., & Strømme, P. (2015) · European Journal of Neurology · doi:10.1111/ene.12884 · Cited by 5 · see citing works
Mertiri, L., Lequin, M. H., Rossi, A., Hoffmann, C., & Huisman, T. A. G. M. (2025) · Journal of Neuroimaging · doi:10.1111/jon.70112 · Cited by 4 · see citing works
Keogh, M. J., Aribisala, B. S., He, J., Tulip, E., Butteriss, D., Morris, C. M., Gorman, G. S., Horváth, R., Chinnery, P. F., & Blamire, A. M. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7832-2 · Cited by 4 · see citing works
Salomão, R. P. A., Filho, F. M. R., Borges, V., Kurian, M. A., Ferraz, H. B., Breedveld, G. J., Bonifati, V., Barsottini, O. G. P., & Pedroso, J. L. (2024) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2024.106103 · Cited by 3 · see citing works
Saleh, M., Elbadry, M. S., Amer, A., & Ismail, O. I. (2018) · The Egyptian Journal of Histology · doi:10.21608/ejh.2018.29262 · Cited by 3 · see citing works
- Authors
- Schipper, H. M.
- Affiliations
- Jewish General Hospital (CA)
- Corresponding author
- Schipper, Hyman M.
- ORCID
- Schipper, Hyman M.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 1822
- Issue
- 3
- Pages
- 350-360
- ISSN
- 0925-4439 (ISSN-L)
- OpenAlex
- W2054326641
- Cited by
- 141
- References
- 110
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 9 · 2023: 7 · 2022: 10 · 2021: 6 · 2020: 6 · 2019: 9 · 2018: 8 · 2017: 17 · 2016: 14 · 2015: 18 · 2014: 11 · 2013: 9 · 2012: 9
- FWCI
- 0.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research
- Mary Katz Claman Foundation and Molecular Biometrics Inc.
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced MRI Techniques and Applications
- Keywords
- neurodegeneration with brain iron accumulation, brain iron accumulation, Friedreich's ataxia, PLA2G6-associated neurodegeneration, aceruloplasminemia, neuroferritinopathy, iron homeostasis, iron chelation therapy, differential diagnosis, iron-sensitive MRI, reactive oxygen species, hereditary neurodegenerative disease
- MeSH terms
- Brain, Humans, Iron, Neurodegenerative Diseases, Neurotoxicity Syndromes, Neuroimaging
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