Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
Open accessAbstract
Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of 41 subjects with the 460InsA mutation in FTL1, documenting the presentation, clinical course, biochemistry and neuroimaging. The mean age of onset was 39.4 years (SD = 13.3, range 13-63), beginning with chorea in 50%, focal lower limb dystonia in 42.5% and parkinsonism in 7.5%. The majority reported a family history of a movement disorder often misdiagnosed as Huntington's disease. The disease progressed relentlessly, becoming generalized over a 5-10 year period, eventually leading to aphonia, dysphagia and severe motor disability with subcortical/frontal cognitive dysfunction as a late feature. A characteristic action-specific facial dystonia was common (65%), and in 63% there was asymmetry throughout the disease course. Serum ferritin levels were low in the majority of males and post-menopausal females, but within normal limits for pre-menopausal females. MR brain imaging was abnormal on all affected individuals and one presymptomatic carrier. In conclusion, isolated parkinsonism is unusual in neuroferritinopathy, and unlike Huntington's disease, cognitive changes are absent or subtle in the early stages. Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Neuroferritinopathy is caused by mutations in light-chain-ferritin resulting in loss of function and accumulation of iron in the globus pallidus, putamen, and dentate nuclei of the cerebellum.
“Neuroferritinopathy, a rare adult-onset condition presenting with a range of extrapyramidal movement disorders, is caused by mutations in light-chain–ferritin185 (the principal iron storage protein) resulting in loss of function and accumulation of iron in the globus pallidus, putamen, and dentate nuclei of the cerebellum.186”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [185]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Association between Early-Onset Parkinson's Disease and Mutations in theParkinGene
Lücking, C. B., Dürr, A., Bonifati, V., Vaughan, J. R., Michele, G. D., Gasser, T., Harhangi, B. S., Meco, G., Denèfle, P., Wood, N. W., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200005253422103 · Cited by 1,433 · see citing works
Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome
Hayflick, S. J., Westaway, S. K., Levinson, B., Zhou, B., Johnson, M., Ching, K. H. L., & Gitschier, J. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa020817 · Cited by 713 · see citing works
Nakamura, K. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.14.1441 · Cited by 623 · 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
The DYT1 phenotype and guidelines for diagnostic testing
Bressman, S., Sabatti, C., Raymond, D., de Leon, D., Klein, C., Kramer, P. L., Brin, M. F., Fahn, S., Breakefield, X. O., Ozelius, L. J., et al. (2000) · Neurology · doi:10.1212/wnl.54.9.1746 · Cited by 363 · see citing works
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Rampoldi, L., Dobson‐Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., et al. (2001) · Nature Genetics · doi:10.1038/88821 · Cited by 350 · see citing works
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
Ho, M. (1994) · Cell · doi:10.1016/0092-8674(94)90136-8 · Cited by 260 · see citing works
Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., & Yanagisawa, N. (1995) · Annals of Neurology · doi:10.1002/ana.410370515 · Cited by 245 · see citing works
Pillon, B., Dubois, B., Ploska, A., & Agid, Y. (1991) · Neurology · doi:10.1212/wnl.41.5.634 · Cited by 231 · see citing works
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
Rolfs, A., Koeppen, A. H., Bauer, I., Bauer, P., Buhlmann, S., Topka, H. R., Schöls, L. J., & Rieß, O. (2003) · Annals of Neurology · doi:10.1002/ana.10676 · Cited by 231 · see citing works
The Role of Iron in Neurodegeneration: Prospects for Pharmacotherapy of Parkinson??s Disease
Jellinger, K. A. (1999) · Drugs & Aging · doi:10.2165/00002512-199914020-00004 · Cited by 218 · see citing works
Massman, P. J., Delis, D. C., Butters, N., Levin, B. E., & Salmon, D. P. (1990) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/01688639008401015 · Cited by 205 · see citing works
Tassin, J., Dürr, A., Bonnet, A.-M., Gil, R., Vidailhet, M., Lücking, C. B., Goas, J.-Y., Durif, F., Abada-Bendib, M., Échenne, B., et al. (2000) · Brain · doi:10.1093/brain/123.6.1112 · Cited by 191 · see citing works
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
Margolis, R. L., O’Hearn, E., Rosenblatt, A., Willour, V. L., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., & Ross, C. A. (2001) · Annals of Neurology · doi:10.1002/ana.1312 · Cited by 183 · 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
Clinical spectrum of Niemann‐Pick disease type C
Fink, J. K., Filling‐Katz, M. R., Sokol, J., Cogan, D. G., Pikus, A., Sonies, B., Soong, B., Pentchev, P. G., Comly, M. E., Brady, R. O., et al. (1989) · Neurology · doi:10.1212/wnl.39.8.1040 · Cited by 158 · 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
The neurology of mitochondrial DNA disease
McFarland, R., Taylor, R. W., & Turnbull, D. M. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00159-x · Cited by 134 · see citing works
Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., & Santos, M. M. (2005) · Neurology · doi:10.1212/01.wnl.0000178224.81169.c2 · Cited by 96 · 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
Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies
Barragán-Campos, H. M., Vallée, J.-N., Lô, D., Barrera-Ramírez, C. F., Argote-Greene, M., Sánchez‐Guerrero, J., Estañol, B., Guillevin, R., & Jacques Chiras, C. (2005) · Archives of Neurology · doi:10.1001/archneur.62.5.737 · Cited by 69 · 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
Spectrum of movement disorders in neuroferritinopathy
Crompton, D. E., Chinnery, P. F., Bates, D., Walls, T. J., Jackson, M. J., Curtis, A. J., & Burn, J. (2004) · Movement Disorders · doi:10.1002/mds.20284 · Cited by 52 · see citing works
MR imaging of cerebral cortical involvement in aceruloplasminemia.
Grisoli, M., Piperno, A., Chiapparini, L., Mariani, R., & Savoiardo, M. (2005) · PubMed Central · Cited by 48 · see citing works
Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Mir, P., Edwards, M. J., Curtis, A. R. J., Bhatia, K. P., & Quinn, N. P. (2004) · Movement Disorders · doi:10.1002/mds.20280 · Cited by 32 · see citing works
Movement disorders and mitochondrial dysfunction
Hanna, M. G., & Bhatia, K. P. (1997) · Current Opinion in Neurology · doi:10.1097/00019052-199708000-00012 · Cited by 32 · see citing works
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
Craig, K., Keers, S. M., Walls, T. J., Curtis, A., & Chinnery, P. F. (2005) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2005.08.009 · Cited by 30 · see citing works
Caparros-Lefebvre, D., Destée, A., & Petit, H. (1997) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.63.2.196 · Cited by 28 · see citing works
Pillon, B., Dubois, B., & Agid, Y. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb00222.x · Cited by 11 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Fink JK, Filling-Katz MR, Sokol J, Cogan DG, Pikus A, Sonies B, et al. Clinical spectrumof Niemann-Pick diseasetype C. Neurology1989;39: 1040-9.
Cited by
Sorted by citations
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
Metals in Alzheimer's and Parkinson's Diseases
Barnham, K. J., & Bush, A. I. (2008) · Current Opinion in Chemical Biology · doi:10.1016/j.cbpa.2008.02.019 · Cited by 695 · see citing works
Duce, J. A., Tsatsanis, A., Cater, M. A., James, S., Robb, E. L., Wikhe, K., Leong, S. L., Perez, K. A., Johanssen, T., Greenough, M. A., et al. (2010) · Cell · doi:10.1016/j.cell.2010.08.014 · Cited by 682 · see citing works
Therapeutics for Alzheimer's Disease Based on the Metal Hypothesis
Bush, A. I., & Tanzi, R. E. (2008) · Neurotherapeutics · doi:10.1016/j.nurt.2008.05.001 · Cited by 566 · see citing works
Copper and iron disorders of the brain
Madsen, E., & Gitlin, J. D. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094232 · Cited by 557 · see citing works
Intracellular iron transport and storage: from molecular mechanisms to health implications
Mackenzie, E. L., Iwasaki, K., & Tsuji, Y. (2008) · Antioxidants & Redox Signaling · doi:10.1089/ars.2007.1893 · Cited by 526 · see citing works
A delicate balance: Iron metabolism and diseases of the brain
Hare, D. J., Ayton, S., Bush, A. I., & Lei, P. (2013) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2013.00034 · Cited by 444 · see citing works
Arosio, P., & Levi, S. (2010) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2010.02.005 · Cited by 320 · see citing works
Single-cell dissection of the human brain vasculature
García, F., Sun, N., Lee, H., Godlewski, B. R., Mathys, H., Galani, K., Zhou, B., Jiang, X., Ng, A. P., Mantero, J. C., et al. (2022) · Nature · doi:10.1038/s41586-022-04521-7 · Cited by 310 · 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
Marras, C., Lang, A. E., van de Warrenburg, B. P. C., Sue, C. M., Tabrizi, S. J., Bertram, L., Mercimek‐Andrews, S., Ebrahimi‐Fakhari, D., Warner, T. T., Dürr, A., et al. (2016) · Movement Disorders · doi:10.1002/mds.26527 · Cited by 285 · see citing works
Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
Hogarth, P. (2015) · Journal of Movement Disorders · doi:10.14802/jmd.14034 · Cited by 221 · see citing works
Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
Kruer, M. C., Boddaert, N., Schneider, S. A., Houlden, H., Bhatia, K. P., Gregory, A., Anderson, J. C., Rooney, W. D., Hogarth, P., & Hayflick, S. J. (2011) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2677 · Cited by 218 · see citing works
Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration
Muhoberac, B. B., & Vidal, R. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.01195 · Cited by 196 · see citing works
Schneider, S. A., Hardy, J., & Bhatia, K. P. (2011) · Movement Disorders · doi:10.1002/mds.23971 · Cited by 180 · 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
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
Levi, S., & Finazzi, D. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00099 · Cited by 164 · 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
Neurodegeneration with brain iron accumulation–clinical syndromes and neuroimaging
Schipper, H. M. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.06.016 · Cited by 141 · see citing works
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
Schneider, S. A., Dušek, P., Hardy, J., Westenberger, A., Jankovic, J. J., & Bhatia, K. P. (2013) · Current Neuropharmacology · doi:10.2174/157015913804999469 · Cited by 140 · see citing works
Iron chelation in the treatment of neurodegenerative diseases
Dušek, P., Schneider, S. A., & Aaseth, J. (2016) · Journal of Trace Elements in Medicine and Biology · doi:10.1016/j.jtemb.2016.03.010 · Cited by 133 · see citing works
Iron dysregulation in Huntington's disease
Müller, M., & Leavitt, B. R. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12739 · Cited by 122 · see citing works
Iron and Mechanisms of Neurotoxicity
Salvador, G. A., Uranga, R. M., & Giusto, N. M. (2010) · International Journal of Alzheimer s Disease · doi:10.4061/2011/720658 · Cited by 127 · see citing works
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions
Tarnacka, B., Jopowicz, A., & Maślińska, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22157820 · Cited by 116 · see citing works
Brain iron accumulation in aging and neurodegenerative disorders
Hagemeier, J., Geurts, J. J. G., & Zivadinov, R. (2012) · Expert Review of Neurotherapeutics · doi:10.1586/ern.12.128 · Cited by 110 · see citing works
The differential diagnosis of chorea
Wild, E. J., & Tabrizi, S. J. (2007) · Practical Neurology · doi:10.1136/pn.2007.134585 · Cited by 107 · see citing works
Schneider, S. A., Walker, R. H., & Bhatia, K. P. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0606 · Cited by 102 · see citing works
Huntington's disease phenocopy syndromes
Wild, E. J., & Tabrizi, S. J. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f12074 · Cited by 96 · see citing works
Role of iron in neurotoxicity: a cause for concern in the elderly?
Stankiewicz, J., & Brass, S. D. (2008) · Current Opinion in Clinical Nutrition & Metabolic Care · doi:10.1097/mco.0b013e32831ba07c · Cited by 94 · see citing works
Wilson Disease and Other Neurodegenerations with Metal Accumulations
Dušek, P., Litwin, T., & Członkowska, A. (2014) · Neurologic Clinics · doi:10.1016/j.ncl.2014.09.006 · Cited by 93 · see citing works
Levi, S., & Tiranti, V. (2019) · Pharmaceuticals · doi:10.3390/ph12010027 · Cited by 90 · see citing works
Chelation Therapy in the Treatment of Metal Intoxication
Aaseth, J., Crisponi, G., & Andersen, O. (2016) · Elsevier eBooks · doi:10.1016/c2014-0-01302-0 · Cited by 83 · see citing works
Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy
Cozzi, A., Rovelli, E., Frizzale, G., Campanella, A., Amendola, M., Arosio, P., & Levi, S. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.09.009 · Cited by 78 · see citing works
Classification and molecular pathogenesis of NBIA syndromes
Meo, I. D., & Tiranti, V. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.01.008 · Cited by 75 · see citing works
Ferreira, C. R., & Gahl, W. A. (2017) · Translational Science of Rare Diseases · doi:10.3233/trd-170015 · Cited by 75 · see citing works
Venco, P., Bonora, M., Giorgi, C., Papaleo, E., Iuso, A., Prokisch, H., Pinton, P., & Tiranti, V. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00185 · Cited by 74 · see citing works
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach
Sedel, F., Saudubray, J., Roze, E. F., Agid, Y., & Vidailhet, M. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-0854-5 · Cited by 75 · see citing works
Iankova, V., Karin, I., Klopstock, T., & Schneider, S. A. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.629414 · Cited by 73 · see citing works
Walterfang, M., Chien, Y., Imrie, J., Rushton, D., Schubiger, D., & Patterson, M. C. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-76 · Cited by 73 · see citing works
Kubota, A., Hida, A., Ichikawa, Y., Momose, Y., Goto, J., Igeta, Y., Hashida, H., Yoshida, K., Ikeda, S., KANAZAWA, I., et al. (2009) · Movement Disorders · doi:10.1002/mds.22435 · Cited by 72 · see citing works
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation
Devos, D., Tchofo, P. J., Vuillaume, I., Destée, A., Batey, S., Burn, J., & Chinnery, P. F. (2008) · Brain · doi:10.1093/brain/awn274 · Cited by 71 · see citing works
Heterogeneity of nervous system mitochondria: Location, location, location!
Dubinsky, J. M. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.05.020 · Cited by 66 · see citing works
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
Levi, S., & Rovida, E. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.02.007 · Cited by 65 · see citing works
Iron chelation and multiple sclerosis
Weigel, K. J., Lynch, S. G., & LeVine, S. M. (2014) · ASN NEURO · doi:10.1042/an20130037 · Cited by 63 · see citing works
Abnormal iron homeostasis and neurodegeneration
Muhoberac, B. B., & Vidal, R. (2013) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2013.00032 · Cited by 61 · see citing works
Neurodegeneration with Brain Iron Accumulation
Schneider, S. A. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0608-3 · Cited by 61 · see citing works
Woimant, F., & Trocello, J. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-7020-4087-0.00057-7 · Cited by 60 · see citing works
Syndromes of Neurodegeneration With Brain Iron Accumulation
Schneider, S. A., & Bhatia, K. P. (2012) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2012.03.005 · Cited by 58 · see citing works
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA)
Schneider, S. A., & Bhatia, K. P. (2012) · Journal of Neural Transmission · doi:10.1007/s00702-012-0922-8 · Cited by 54 · see citing works
Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm
Kruer, M. C., & Boddaert, N. (2012) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2012.04.001 · Cited by 54 · see citing works
Huntington's Disease, Huntington's Disease Look‐Alikes, and Benign Hereditary Chorea: What's New?
Schneider, S. A., & Bird, T. D. (2016) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12312 · Cited by 54 · see citing works
Luscieti, S., Santambrogio, P., Langlois d'Estaintot, B., Granier, T., Cozzi, A., Poli, M., Gallois, B., Finazzi, D., Cattaneo, A., Levi, S., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.096404 · Cited by 51 · see citing works
Genetic iron chelation protects against proteasome inhibition-induced dopamine neuron degeneration
Zhu, W., Li, X., Xie, W., Luo, F., Kaur, D., Andersen, J. K., Jankovic, J. J., & Le, W. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.09.024 · Cited by 53 · see citing works
Overdosing on iron: Elevated iron and degenerative brain disorders
D’Mello, S. R., & Kindy, M. S. (2020) · Experimental Biology and Medicine · doi:10.1177/1535370220953065 · Cited by 49 · see citing works
Neuroferritinopathy: a new inborn error of iron metabolism
Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., & Burn, J. (2012) · Neurogenetics · doi:10.1007/s10048-011-0310-9 · Cited by 49 · see citing works
Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
Lee, J., Yun, J. Y., Gregory, A., Hogarth, P., & Hayflick, S. J. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.01024 · Cited by 49 · see citing works
Huntingtonʼs disease and Huntingtonʼs disease-like syndromes
Gövert, F., & Schneider, S. A. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283632d90 · Cited by 48 · see citing works
Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms
Aggarwal, A., Schneider, S. A., Houlden, H., Silverdale, M., Paudel, R., Paisán‐Ruiz, C., Desai, S. B., Munshi, M., Sanghvi, D., Hardy, J., et al. (2010) · Movement Disorders · doi:10.1002/mds.23095 · Cited by 48 · see citing works
Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis
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
MRI Findings in Neuroferritinopathy
Ohta, E., & Takiyama, Y. (2011) · Neurology Research International · doi:10.1155/2012/197438 · Cited by 46 · see citing works
Rare Causes of Dystonia Parkinsonism
Schneider, S. A., & Bhatia, K. P. (2010) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-010-0136-0 · Cited by 44 · see citing works
Secondary dystonia – clinical clues and syndromic associations
Schneider, S. A., & Bhatia, K. P. (2010) · European Journal of Neurology · doi:10.1111/j.1468-1331.2010.03051.x · Cited by 43 · see citing works
Hemoglobin, Iron, and Bilirubin
Higgins, T., Eckfeldt, J. H., Barton, J. C., & Doumas, B. T. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-6164-9.00032-9 · Cited by 43 · see citing works
Cranial movement disorders: clinical features, pathophysiology, differential diagnosis and treatment
Fabbrini, G., Defazio, G., Colosimo, C., Thompson, P. D., & Berardelli, A. (2009) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro1006 · Cited by 42 · see citing works
Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation
Kwiatkowski, A., Ryckewaert, G., Jissendi Tchofo, P., Moreau, C., Vuillaume, I., Chinnery, P. F., Destée, A., Defebvre, L., & Devos, D. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2011.06.024 · Cited by 41 · see citing works
Self-citationMovement disorders in neuro-metabolic diseases
Gouider‐Khouja, N., Kraoua, I., Benrhouma, H., Fraj, N., & Rouissi, A. (2009) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2009.11.005 · Cited by 41 · see citing works
Iron metabolism and its detection through MRI in parkinsonian disorders: a systematic review
Pietracupa, S., Martín‐Bastida, A., & Piccini, P. P. (2017) · Neurological Sciences · doi:10.1007/s10072-017-3099-y · Cited by 40 · see citing works
Iron induces two distinct Ca2+ signalling cascades in astrocytes
Guan, W., Xia, M., Ji, M. H., Chen, B., Li, S., Zhang, M., Liang, S., Chen, B., Gong, W., Dong, C., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02060-x · Cited by 40 · see citing works
Deng, X., Vidal, R., & Englander, E. W. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.05.025 · Cited by 39 · see citing works
Neurodegeneration with brain iron accumulation
Wiethoff, S., & Houlden, H. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-802395-2.00011-0 · Cited by 39 · see citing works
Neurodegeneration with brain iron accumulation
McNeill, A., & Chinnery, P. F. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52014-2.00009-4 · Cited by 37 · see citing works
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
Dezfouli, M. A., Alavi, A., Rohani, M., Rezvani, M., Nekuie, T., Klotzle, B., Tonekaboni, S. H., Shahidi, G. A., & Elahi, E. (2012) · Movement Disorders · doi:10.1002/mds.25271 · Cited by 36 · see citing works
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management
Kumar, N., Rizek, P., & Jog, M. (2015) · Europe PMC (PubMed Central) · doi:10.7916/d8930tg2 · Cited by 34 · see citing works
Neurodegenerations with Brain Iron Accumulation
Schneider, S. A. (2015) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2015.08.012 · Cited by 33 · see citing works
Neurodegeneration with brain iron accumulation
Batla, A., & Gaddipati, C. (2019) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_481_18 · Cited by 33 · see citing works
Venco, P., Dusi, S., Valletta, L., & Tiranti, V. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140106 · Cited by 31 · see citing works
Parkinsonian-Pyramidal syndromes: A systematic review
Tranchant, C., Koob, M., & Anheim, M. (2017) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2017.02.025 · Cited by 30 · see citing works
Ory‐Magne, F., Brefel‐Courbon, C., Payoux, P., Debruxelles, S., Sibon, I., Goizet, C., Labauge, P. M., Ménégon, P., Uro‐Coste, E., Ghetti, B. F., et al. (2009) · Movement Disorders · doi:10.1002/mds.22669 · Cited by 29 · see citing works
Eye-of-the-tiger-sign in a 48year healthy adult
van den Bogaard, S. J. A., Kruit, M. C., Dumas, E. M., & Roos, R. A. C. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.10.005 · Cited by 28 · see citing works
Keogh, M. J., Morris, C. M., & Chinnery, P. F. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-410502-7.00006-5 · Cited by 28 · see citing works
Susceptibility weighted imaging: A pictorial review
Ong, B., & STUCKEY, S. L. (2010) · Journal of Medical Imaging and Radiation Oncology · doi:10.1111/j.1754-9485.2010.02208.x · Cited by 28 · see citing works
Cardinal, R. N., & Bullmore, E. T. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511686917 · Cited by 28 · see citing works
Lehn, A., Boyle, R., Brown, H., Airey, C. A., & Mellick, G. D. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.06.021 · Cited by 28 · see citing works
Neurodegeneration with brain iron accumulation: an overview.
Tonekaboni, S. H., & Mollamohammadi, M. (2014) · Europe PMC (PubMed Central) · Cited by 27 · see citing works
Garringer, H. J., Irimia, J. M., Li, W., Goodwin, C. B., Richine, B. M., Acton, A. J., Chan, R. J., Peacock, M., Muhoberac, B. B., Ghetti, B. F., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0161341 · Cited by 27 · see citing works
Parkinsonism and inborn errors of metabolism
García‐Cazorla, À., & Duarte, S. T. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9723-6 · Cited by 28 · see citing works
An Update on the Treatment of Chorea
Feinstein, E., & Walker, R. H. (2018) · Current Treatment Options in Neurology · doi:10.1007/s11940-018-0529-y · Cited by 26 · see citing works
McNeill, A., Gorman, G. S., Khan, A., Horváth, R., Blamire, A. M., & Chinnery, P. F. (2012) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3036 · Cited by 26 · see citing works
The pallidopyramidal syndromes
Kara, E., Hardy, J., & Houlden, H. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283632e83 · Cited by 24 · see citing works
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation
Nishida, K., Garringer, H. J., Futamura, N., Funakawa, I., Jinnai, K., Vidal, R., & Takao, M. (2014) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.03.060 · Cited by 25 · see citing works
Behavioral Characterization of Mouse Models of Neuroferritinopathy
Capoccia, S., Maccarinelli, F., Buffoli, B., Rodella, L. F., Cremona, O., Arosio, P., & Cirulli, F. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118990 · Cited by 24 · see citing works
Molecular MR Imaging of Cancer Gene Therapy: Ferritin Transgene Reporter Takes the Stage
Hasegawa, S., Furukawa, T., & Saga, T. (2010) · Magnetic Resonance in Medical Sciences · doi:10.2463/mrms.9.37 · Cited by 23 · see citing works
A practical approach to diseases affecting dentate nuclei
Khadilkar, S. V., Jaggi, S., Patel, B. A. A., Yadav, R., Hanagandi, P. B., & do Amaral, L. L. F. (2015) · Clinical Radiology · doi:10.1016/j.crad.2015.09.010 · Cited by 23 · see citing works
Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria
Magrinelli, F., Latorre, A., Balint, B., Mackenzie, M., Mulroy, E., Stamelou, M., Tinazzi, M., & Bhatia, K. P. (2020) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2020.04.010 · Cited by 23 · see citing works
Chapter Five – Neuroferritinopathy
Keogh, M. J., Morris, C. M., & Chinnery, P. F. (2013) · International review of neurobiology · Cited by 21 · see citing works
Iron Pathophysiology in Neurodegeneration with Brain Iron Accumulation
Levi, S., Cozzi, A., & Santambrogio, P. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9589-5_9 · Cited by 21 · see citing works
Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation
Keogh, M. J., & Chinnery, P. F. (2012) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2012.03.004 · Cited by 20 · see citing works
NBIA Syndromes: A Step Forward from the Previous Knowledge
Svetel, M. V., Dragašević, N., Petrović, I. N., Novaković, I. V., Tomić, A., Kresojević, N. D., Stanković, I., & Kostić, V. (2021) · Neurology India · doi:10.4103/0028-3886.329603 · Cited by 19 · see citing works
Treatment of Secondary Chorea: A Review of the Current Literature
Feinstein, E., & Walker, R. H. (2020) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.351 · Cited by 19 · see citing works
- Authors
- Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., & Burn, J.
- Affiliations
- Newcastle University (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- The University of Queensland (AU)
- National Hospital for Neurology and Neurosurgery (GB)
- Queen's Medical Centre (GB)
- Walton Centre (GB)
- Salford Royal Hospital (GB)
- Corresponding author
- Chinnery, P. F.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-11-21
- Volume
- 130
- Issue
- 1
- Pages
- 110-119
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2147249791
- Cited by
- 205
- References
- 29
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 2 · 2021: 11 · 2020: 7 · 2019: 8 · 2018: 3 · 2017: 11 · 2016: 12 · 2015: 12 · 2014: 23 · 2013: 22 · 2012: 17
- FWCI
- 5.92
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Brain (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust
- Alzheimer's Research Trust
- Ataxia UK
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- neuroferritinopathy, chorea, facial dystonia, parkinsonism, idiopathic torsion dystonia, serum ferritin, brain MRI abnormalities, natural history (disease), extrapyramidal disorders, cognitive impairment
- MeSH terms
- Adolescent, Adult, Apoferritins, Brain, Chorea, Dystonia, Family Health, Female, Ferritins, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders, Mutation, Parkinson Disease, Phenotype, Sex Factors, Age of Onset, Muscle, Skeletal
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
