Login Register Cart 0
Generic placeholder image

Current Neuropharmacology

Editor-in-Chief

ISSN (Print): 1570-159X
ISSN (Online): 1875-6190

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Review Article

Management Perspective of Wilson’s Disease: Early Diagnosis and Individualized Therapy

Author(s): Xiang-Zhen Yuan, Ren-Min Yang and Xiao-Ping Wang*

Volume 19, Issue 4, 2021

Published on: 29 April, 2020

Page: [465 - 485] Pages: 21

DOI: 10.2174/1570159X18666200429233517

Price: $65

Abstract

Wilson’s disease (WD) is an inherited disease caused by mutations in ATP7B and is characterized by the pathological accumulation of copper in the liver and brain. Common clinical manifestations of WD include a wide range of liver disease and neurological symptoms. In some patients, psychiatric symptoms may be the only manifestation at the time of diagnosis. The clinical features of WD are highly variable and can mimic any disease of internal medicine. Therefore, for unexplained medical diseases, the possibility of WD should not be ignored. Early diagnosis and treatment can improve the prognosis of WD patients and reduce disability and early death. Gene sequencing is becoming a valuable method to diagnose WD, and if possible, all WD patients and their siblings should be genetically sequenced. Copper chelators including D-penicillamine, trientine, and dimercaptosuccinic acid can significantly improve the liver injury and symptoms of WD patients but may have a limited effect on neurological symptoms. Zinc salts may be more appropriate for the treatment of asymptomatic patients or for the maintenance treatment of symptomatic patients. High-quality clinical trials for the drug treatment of WD are still lacking, therefore, individualized treatment options for patients are recommended. Individualized treatment can be determined based on the clinical features of the WD patients, efficacy and adverse effects of the drugs, and the experience of the physician. Liver transplantation is the only effective method to save patients with acute liver failure or with severe liver disease who fail drug treatment.

Keywords: Wilson's disease, ceruloplasmin, copper homeostasis, genetics, diagnosis, management.

« Previous Next »
Graphical Abstract

[1]
Barceloux, D.G. Copper. J. Toxicol. Clin. Toxicol., 1999, 37(2), 217-230.
[http://dx.doi.org/10.1081/CLT-100102421] [PMID: 10382557]
[2]
Tanzi, R.E.; Petrukhin, K.; Chernov, I.; Pellequer, J.L.; Wasco, W.; Ross, B.; Romano, D.M.; Parano, E.; Pavone, L.; Brzustowicz, L.M. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet., 1993, 5(4), 344-350.
[http://dx.doi.org/10.1038/ng1293-344] [PMID: 8298641]
[3]
Gu, M.; Cooper, J.M.; Butler, P.; Walker, A.P.; Mistry, P.K.; Dooley, J.S.; Schapira, A.H. Oxidative-phosphorylation defects in liver of patients with Wilson’s disease. Lancet, 2000, 356(9228), 469-474.
[http://dx.doi.org/10.1016/S0140-6736(00)02556-3] [PMID: 10981891]
[4]
Bandmann, O.; Weiss, K.H.; Kaler, S.G. Wilson’s disease and other neurological copper disorders. Lancet Neurol., 2015, 14(1), 103-113.
[http://dx.doi.org/10.1016/S1474-4422(14)70190-5] [PMID: 25496901]
[5]
Wang, B.; Wang, X.P. Does ceruloplasmin defend against neurodegenerative diseases? Curr. Neuropharmacol., 2019, 17(6), 539-549.
[http://dx.doi.org/10.2174/1570159X16666180508113025] [PMID: 29737252]
[6]
Grandis, D.J.; Nah, G.; Whitman, I.R.; Vittinghoff, E.; Dewland, T.A.; Olgin, J.E.; Marcus, G.M. Wilson’s disease and cardiac myopathy. Am. J. Cardiol., 2017, 120(11), 2056-2060.
[http://dx.doi.org/10.1016/j.amjcard.2017.08.025] [PMID: 28947309]
[7]
Członkowska, A.; Litwin, T.; Dusek, P.; Ferenci, P.; Lutsenko, S.; Medici, V.; Rybakowski, J.K.; Weiss, K.H.; Schilsky, M.L. Wilson disease. Nat. Rev. Dis. Primers, 2018, 4(1), 21.
[http://dx.doi.org/10.1038/s41572-018-0018-3] [PMID: 30190489]
[8]
Ferenci, P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum. Genet., 2006, 120(2), 151-159.
[http://dx.doi.org/10.1007/s00439-006-0202-5] [PMID: 16791614]
[9]
Caca, K.; Ferenci, P.; Kühn, H.J.; Polli, C.; Willgerodt, H.; Kunath, B.; Hermann, W.; Mössner, J.; Berr, F. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J. Hepatol., 2001, 35(5), 575-581.
[http://dx.doi.org/10.1016/S0168-8278(01)00219-7] [PMID: 11690702]
[10]
Mihaylova, V.; Todorov, T.; Jelev, H.; Kotsev, I.; Angelova, L.; Kosseva, O.; Georgiev, G.; Ganeva, R.; Cherninkova, S.; Tankova, L.; Savov, A.; Tournev, I. Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. Neurologist, 2012, 18(4), 184-189.
[http://dx.doi.org/10.1097/NRL.0b013e31825cf3b7] [PMID: 22735241]
[11]
Ferenci, P.; Stremmel, W.; Członkowska, A.; Szalay, F.; Viveiros, A.; Stättermayer, A.F.; Bruha, R.; Houwen, R.; Pop, T.L.; Stauber, R.; Gschwantler, M.; Pfeiffenberger, J.; Yurdaydin, C.; Aigner, E.; Steindl-Munda, P.; Dienes, H.P.; Zoller, H.; Weiss, K.H. Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease. Hepatology, 2019, 69(4), 1464-1476.
[http://dx.doi.org/10.1002/hep.30280] [PMID: 30232804]
[12]
Shah, A.B.; Chernov, I.; Zhang, H.T.; Ross, B.M.; Das, K.; Lutsenko, S.; Parano, E.; Pavone, L.; Evgrafov, O.; Ivanova-Smolenskaya, I.A.; Annerén, G.; Westermark, K.; Urrutia, F.H.; Penchaszadeh, G.K.; Sternlieb, I.; Scheinberg, I.H.; Gilliam, T.C.; Petrukhin, K. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am. J. Hum. Genet., 1997, 61(2), 317-328.
[http://dx.doi.org/10.1086/514864] [PMID: 9311736]
[13]
Coffey, A.J.; Durkie, M.; Hague, S.; McLay, K.; Emmerson, J.; Lo, C.; Klaffke, S.; Joyce, C.J.; Dhawan, A.; Hadzic, N.; Mieli-Vergani, G.; Kirk, R.; Elizabeth Allen, K.; Nicholl, D.; Wong, S.; Griffiths, W.; Smithson, S.; Giffin, N.; Taha, A.; Connolly, S.; Gillett, G.T.; Tanner, S.; Bonham, J.; Sharrack, B.; Palotie, A.; Rattray, M.; Dalton, A.; Bandmann, O. A genetic study of Wilson’s disease in the United Kingdom. Brain, 2013, 136(Pt 5), 1476-1487.
[http://dx.doi.org/10.1093/brain/awt035] [PMID: 23518715]
[14]
Liu, X.Q.; Zhang, Y.F.; Liu, T.T.; Hsiao, K.J.; Zhang, J.M.; Gu, X.F.; Bao, K.R.; Yu, L.H.; Wang, M.X. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J. Gastroenterol., 2004, 10(4), 590-593.
[http://dx.doi.org/10.3748/wjg.v10.i4.590] [PMID: 14966923]
[15]
Dong, Y.; Ni, W.; Chen, W.J.; Wan, B.; Zhao, G.X.; Shi, Z.Q.; Zhang, Y.; Wang, N.; Yu, L.; Xu, J.F.; Wu, Z.Y. Spectrum and Classification of ATP7B variants in a large cohort of chinese patients with Wilson’s Disease Guides Genetic Diagnosis. Theranostics, 2016, 6(5), 638-649.
[http://dx.doi.org/10.7150/thno.14596] [PMID: 27022412]
[16]
Park, S.; Park, J.Y.; Kim, G.H.; Choi, J.H.; Kim, K.M.; Kim, J.B.; Yoo, H.W. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum. Mutat., 2007, 28(11), 1108-1113.
[http://dx.doi.org/10.1002/humu.20574] [PMID: 17587212]
[17]
Okada, T.; Shiono, Y.; Hayashi, H.; Satoh, H.; Sawada, T.; Suzuki, A.; Takeda, Y.; Yano, M.; Michitaka, K.; Onji, M.; Mabuchi, H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson’s disease. Hum. Mutat., 2000, 15(5), 454-462.
[http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J] [PMID: 10790207]
[18]
Tatsumi, Y.; Hattori, A.; Hayashi, H.; Ikoma, J.; Kaito, M.; Imoto, M.; Wakusawa, S.; Yano, M.; Hayashi, K.; Katano, Y.; Goto, H.; Okada, T.; Kaneko, S. Current state of Wilson disease patients in central Japan. Intern. Med., 2010, 49(9), 809-815.
[http://dx.doi.org/10.2169/internalmedicine.49.2931] [PMID: 20453399]
[19]
Gupta, A.; Aikath, D.; Neogi, R.; Datta, S.; Basu, K.; Maity, B.; Trivedi, R.; Ray, J.; Das, S.K.; Gangopadhyay, P.K.; Ray, K. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum. Genet., 2005, 118(1), 49-57.
[http://dx.doi.org/10.1007/s00439-005-0007-y] [PMID: 16133174]
[20]
Mukherjee, S.; Dutta, S.; Majumdar, S.; Biswas, T.; Jaiswal, P.; Sengupta, M.; Bhattacharya, A.; Gangopadhyay, P.K.; Bavdekar, A.; Das, S.K.; Ray, K. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. Parkinsonism Relat. Disord., 2014, 20(1), 75-81.
[http://dx.doi.org/10.1016/j.parkreldis.2013.09.021] [PMID: 24094725]
[21]
Chang, I.J.; Hahn, S.H. The genetics of Wilson disease. Handb. Clin. Neurol., 2017, 142, 19-34.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00003-3] [PMID: 28433102]
[22]
Curtis, D.; Durkie, M.; Balac, P.; Sheard, D.; Goodeve, A.; Peake, I.; Quarrell, O.; Tanner, S. A study of Wilson disease mutations in Britain. Hum. Mutat., 1999, 14(4), 304-311.
[http://dx.doi.org/10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W] [PMID: 10502777]
[23]
Cheng, N.; Wang, H.; Wu, W.; Yang, R.; Liu, L.; Han, Y.; Guo, L.; Hu, J.; Xu, L.; Zhao, J.; Han, Y.; Liu, Q.; Li, K.; Wang, X.; Chen, W. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. Clin. Genet., 2017, 92(1), 69-79.
[http://dx.doi.org/10.1111/cge.12951] [PMID: 27982432]
[24]
Li, K.; Zhang, W.M.; Lin, S.; Wen, L.; Wang, Z.F.; Xie, D.; Wei, M.; Qiu, Z.Q.; Dai, Y.; Lin, M.C.; Kung, H.F.; Yao, F.X. Mutational analysis of ATP7B in north Chinese patients with Wilson disease. J. Hum. Genet., 2013, 58(2), 67-72.
[http://dx.doi.org/10.1038/jhg.2012.134] [PMID: 23235335]
[25]
Merle, U.; Weiss, K.H.; Eisenbach, C.; Tuma, S.; Ferenci, P.; Stremmel, W. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol., 2010, 10, 8.
[http://dx.doi.org/10.1186/1471-230X-10-8] [PMID: 20082719]
[26]
Dmitriev, O.Y.; Bhattacharjee, A.; Nokhrin, S.; Uhlemann, E.M.; Lutsenko, S. Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. J. Biol. Chem., 2011, 286(18), 16355-16362.
[http://dx.doi.org/10.1074/jbc.M110.198101] [PMID: 21398519]
[27]
Payne, A.S.; Kelly, E.J.; Gitlin, J.D. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl. Acad. Sci. USA, 1998, 95(18), 10854-10859.
[http://dx.doi.org/10.1073/pnas.95.18.10854] [PMID: 9724794]
[28]
Wu, Z.Y.; Wang, N.; Lin, M.T.; Fang, L.; Murong, S.X. Genotype-phenotype correlation of patients with wilson disease in Chinese population. Zhonghua Yi Xue Za Zhi, 2003, 83(4), 309-311.
[PMID: 12812649]
[29]
Li, X.; Lu, Z.; Lin, Y.; Lu, X.; Xu, Y.; Cheng, J.; Shao, Y.; Su, X.; Liu, Z.; Sheng, H.; Cai, Y.; Li, T.; Zhou, Z.; Tan, J.; Liu, H.; Huang, Y.; Liu, L.; Zeng, C. Clinical features and mutational analysis in 114 young children with Wilson disease from South China. Am. J. Med. Genet. A., 2019, 179(8), 1451-1458.
[http://dx.doi.org/10.1002/ajmg.a.61254] [PMID: 31172689]
[30]
Xie, J.J.; Wu, Z.Y. Wilson’s Disease in China. Neurosci. Bull., 2017, 33(3), 323-330.
[http://dx.doi.org/10.1007/s12264-017-0107-4] [PMID: 28265897]
[31]
Schiefermeier, M.; Kollegger, H.; Madl, C.; Polli, C.; Oder, W.; Kühn, H.; Berr, F.; Ferenci, P. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson’s disease. Brain, 2000, 123(Pt 3), 585-590.
[http://dx.doi.org/10.1093/brain/123.3.585] [PMID: 10686180]
[32]
Gromadzka, G.; Rudnicka, M.; Chabik, G.; Przybyłkowski, A.; Członkowska, A. Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson’s disease. J. Hepatol., 2011, 55(4), 913-919.
[http://dx.doi.org/10.1016/j.jhep.2011.01.030] [PMID: 21334398]
[33]
Yu, J.T.; Tan, L.; Hardy, J. Apolipoprotein E in Alzheimer’s disease: an update. Annu. Rev. Neurosci., 2014, 37, 79-100.
[http://dx.doi.org/10.1146/annurev-neuro-071013-014300] [PMID: 24821312]
[34]
Litwin, T.; Gromadzka, G.; Członkowska, A. Apolipoprotein E gene (APOE) genotype in Wilson’s disease: impact on clinical presentation. Parkinsonism Relat. Disord., 2012, 18(4), 367-369.
[http://dx.doi.org/10.1016/j.parkreldis.2011.12.005] [PMID: 22221592]
[35]
Gu, Y.H.; Kodama, H.; Du, S.L. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson’s disease, with a concentration on those homozygous for R778L. Brain Dev., 2005, 27(8), 551-553.
[http://dx.doi.org/10.1016/j.braindev.2005.01.006] [PMID: 16310588]
[36]
Kocabay, G.; Tutuncu, Y.; Yilmaz, H.; Demir, K. Impact of apolipoprotein E genotypes on phenotypic expression in Turkish patients with Wilson’s disease. Scand. J. Gastroenterol., 2009, 44(10), 1270-1271.
[http://dx.doi.org/10.1080/00365520903225908] [PMID: 19722128]
[37]
Kluska, A.; Kulecka, M.; Litwin, T.; Dziezyc, K.; Balabas, A.; Piatkowska, M.; Paziewska, A.; Dabrowska, M.; Mikula, M.; Kaminska, D.; Wiernicka, A.; Socha, P.; Czlonkowska, A.; Ostrowski, J. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson’s disease phenotype. Liver Int., 2019, 39(1), 177-186.
[http://dx.doi.org/10.1111/liv.13967] [PMID: 30230192]
[38]
Medici, V.; LaSalle, J.M. Genetics and epigenetic factors of Wilson disease. Ann. Transl. Med., 2019, 7(Suppl. 2), S58.
[http://dx.doi.org/10.21037/atm.2019.01.67] [PMID: 31179295]
[39]
Wilson’s disease. Br. Med. J. (Clin. Res. Ed.), 1984, 288(6431), 1689.
[http://dx.doi.org/10.1136/bmj.288.6431.1689-a] [PMID: 6426690]
[40]
Olivarez, L.; Caggana, M.; Pass, K.A.; Ferguson, P.; Brewer, G.J. Estimate of the frequency of Wilson’s disease in the US Caucasian population: a mutation analysis approach. Ann. Hum. Genet., 2001, 65(Pt 5), 459-463.
[http://dx.doi.org/10.1046/j.1469-1809.2001.6550459.x] [PMID: 11806854]
[41]
Olsson, C.; Waldenström, E.; Westermark, K.; Landegre, U.; Syvänen, A.C. Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur. J. Hum. Genet., 2000, 8(12), 933-938.
[http://dx.doi.org/10.1038/sj.ejhg.5200566] [PMID: 11175281]
[42]
Dusek, P.; Litwin, T.; Czlonkowska, A. Wilson disease and other neurodegenerations with metal accumulations. Neurol. Clin., 2015, 33(1), 175-204.
[http://dx.doi.org/10.1016/j.ncl.2014.09.006] [PMID: 25432729]
[43]
Hahn, S.H.; Lee, S.Y.; Jang, Y.J.; Kim, S.N.; Shin, H.C.; Park, S.Y.; Han, H.S.; Yu, E.S.; Yoo, H.W.; Lee, J.S.; Chung, C.S.; Lee, S.Y.; Lee, D.H. Pilot study of mass screening for Wilson’s disease in Korea. Mol. Genet. Metab., 2002, 76(2), 133-136.
[http://dx.doi.org/10.1016/S1096-7192(02)00026-4] [PMID: 12083810]
[44]
Ohura, T.; Abukawa, D.; Shiraishi, H.; Yamaguchi, A.; Arashima, S.; Hiyamuta, S.; Tada, K.; Iinuma, K. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J. Inherit. Metab. Dis., 1999, 22(1), 74-80.
[http://dx.doi.org/10.1023/A:1005455401076] [PMID: 10070620]
[45]
Mak, C.M.; Lam, C.W.; Tam, S.; Lai, C.L.; Chan, L.Y.; Fan, S.T.; Lau, Y.L.; Lai, J.Y.; Yuen, P.; Hui, J.; Fu, C.C.; Wong, K.S.; Mak, W.L.; Tze, K.; Tong, S.F.; Lau, A.; Leung, N.; Hui, A.; Cheung, K.M.; Ko, C.H.; Chan, Y.K.; Ma, O.; Chau, T.N.; Chiu, A.; Chan, Y.W. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J. Hum. Genet., 2008, 53(1), 55-63.
[http://dx.doi.org/10.1007/s10038-007-0218-2] [PMID: 18034201]
[46]
Park, H.D.; Ki, C.S.; Lee, S.Y.; Kim, J.W. Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. Clin. Genet., 2009, 75(4), 405-407.
[http://dx.doi.org/10.1111/j.1399-0004.2008.01132.x] [PMID: 19419418]
[47]
Ferenci, P.; Roberts, E.A. Defining Wilson disease phenotypes: from the patient to the bench and back again. Gastroenterology, 2012, 142(4), 692-696.
[http://dx.doi.org/10.1053/j.gastro.2012.02.035] [PMID: 22480881]
[48]
Scheiber, I.F.; Brůha, R.; Dušek, P. Pathogenesis of Wilson disease. Handb. Clin. Neurol., 2017, 142, 43-55.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00005-7] [PMID: 28433109]
[49]
Scheiber, I.F.; Mercer, J.F.; Dringen, R. Metabolism and functions of copper in brain. Prog. Neurobiol., 2014, 116, 33-57.
[http://dx.doi.org/10.1016/j.pneurobio.2014.01.002] [PMID: 24440710]
[50]
Chen, C.; Shen, B.; Xiao, J.J.; Wu, R.; Duff Canning, S.J.; Wang, X.P. Currently Clinical Views on Genetics of Wilson’s Disease. Chin. Med. J. (Engl.), 2015, 128(13), 1826-1830.
[http://dx.doi.org/10.4103/0366-6999.159361] [PMID: 26112727]
[51]
Schwerdtle, T.; Hamann, I.; Jahnke, G.; Walter, I.; Richter, C.; Parsons, J.L.; Dianov, G.L.; Hartwig, A. Impact of copper on the induction and repair of oxidative DNA damage, poly(ADP-ribosyl)ation and PARP-1 activity. Mol. Nutr. Food Res., 2007, 51(2), 201-210.
[http://dx.doi.org/10.1002/mnfr.200600107] [PMID: 17230584]
[52]
Lorincz, M.T. Wilson disease and related copper disorders. Handb. Clin. Neurol., 2018, 147, 279-292.
[http://dx.doi.org/10.1016/B978-0-444-63233-3.00018-X] [PMID: 29325617]
[53]
Lee, J.; Peña, M.M.; Nose, Y.; Thiele, D.J. Biochemical characterization of the human copper transporter Ctr1. J. Biol. Chem., 2002, 277(6), 4380-4387.
[http://dx.doi.org/10.1074/jbc.M104728200] [PMID: 11734551]
[54]
Bulcke, F.; Dringen, R.; Scheiber, I.F. Neurotoxicity of Copper. Adv. Neurobiol., 2017, 18, 313-343.
[http://dx.doi.org/10.1007/978-3-319-60189-2_16] [PMID: 28889275]
[55]
Rae, T.D.; Schmidt, P.J.; Pufahl, R.A.; Culotta, V.C.; O’Halloran, T.V. Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase. Science, 1999, 284(5415), 805-808.
[http://dx.doi.org/10.1126/science.284.5415.805] [PMID: 10221913]
[56]
Cobine, P.A.; Ojeda, L.D.; Rigby, K.M.; Winge, D.R. Yeast contain a non-proteinaceous pool of copper in the mitochondrial matrix. J. Biol. Chem., 2004, 279(14), 14447-14455.
[http://dx.doi.org/10.1074/jbc.M312693200] [PMID: 14729672]
[57]
Leary, S.C.; Winge, D.R.; Cobine, P.A. “Pulling the plug” on cellular copper: the role of mitochondria in copper export. Biochim. Biophys. Acta, 2009, 1793(1), 146-153.
[http://dx.doi.org/10.1016/j.bbamcr.2008.05.002] [PMID: 18522804]
[58]
Tadini-Buoninsegni, F.; Smeazzetto, S. Mechanisms of charge transfer in human copper ATPases ATP7A and ATP7B. IUBMB Life, 2017, 69(4), 218-225.
[http://dx.doi.org/10.1002/iub.1603] [PMID: 28164426]
[59]
Zischka, H.; Lichtmannegger, J.; Schmitt, S.; Jägemann, N.; Schulz, S.; Wartini, D.; Jennen, L.; Rust, C.; Larochette, N.; Galluzzi, L.; Chajes, V.; Bandow, N.; Gilles, V.S.; DiSpirito, A.A.; Esposito, I.; Goettlicher, M.; Summer, K.H.; Kroemer, G. Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J. Clin. Invest., 2011, 121(4), 1508-1518.
[http://dx.doi.org/10.1172/JCI45401] [PMID: 21364284]
[60]
Gunther, M.R.; Hanna, P.M.; Mason, R.P.; Cohen, M.S. Hydroxyl radical formation from cuprous ion and hydrogen peroxide: a spin-trapping study. Arch. Biochem. Biophys., 1995, 316(1), 515-522.
[http://dx.doi.org/10.1006/abbi.1995.1068] [PMID: 7840659]
[61]
Halliwell, B. Oxidative stress and neurodegeneration: where are we now? J. Neurochem., 2006, 97(6), 1634-1658.
[http://dx.doi.org/10.1111/j.1471-4159.2006.03907.x] [PMID: 16805774]
[62]
Lang, P.A.; Schenck, M.; Nicolay, J.P.; Becker, J.U.; Kempe, D.S.; Lupescu, A.; Koka, S.; Eisele, K.; Klarl, B.A.; Rübben, H.; Schmid, K.W.; Mann, K.; Hildenbrand, S.; Hefter, H.; Huber, S.M.; Wieder, T.; Erhardt, A.; Häussinger, D.; Gulbins, E.; Lang, F. Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. Nat. Med., 2007, 13(2), 164-170.
[http://dx.doi.org/10.1038/nm1539] [PMID: 17259995]
[63]
Letelier, M.E.; Sánchez-Jofré, S.; Peredo-Silva, L.; Cortés-Troncoso, J.; Aracena-Parks, P. Mechanisms underlying iron and copper ions toxicity in biological systems: Pro-oxidant activity and protein-binding effects. Chem. Biol. Interact., 2010, 188(1), 220-227.
[http://dx.doi.org/10.1016/j.cbi.2010.06.013] [PMID: 20603110]
[64]
Yurkova, I.L.; Arnhold, J.; Fitzl, G.; Huster, D. Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b-/- mouse model of Wilson’s disease. Chem. Phys. Lipids, 2011, 164(5), 393-400.
[http://dx.doi.org/10.1016/j.chemphyslip.2011.05.006] [PMID: 21645498]
[65]
Huster, D.; Finegold, M.J.; Morgan, C.T.; Burkhead, J.L.; Nixon, R.; Vanderwerf, S.M.; Gilliam, C.T.; Lutsenko, S. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am. J. Pathol., 2006, 168(2), 423-434.
[http://dx.doi.org/10.2353/ajpath.2006.050312] [PMID: 16436657]
[66]
Zischka, H.; Lichtmannegger, J. Pathological mitochondrial copper overload in livers of Wilson’s disease patients and related animal models. Ann. N. Y. Acad. Sci., 2014, 1315, 6-15.
[http://dx.doi.org/10.1111/nyas.12347] [PMID: 24517326]
[67]
European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J. Hepatol., 2012, 56(3), 671-685.
[http://dx.doi.org/10.1016/j.jhep.2011.11.007] [PMID: 22340672]
[68]
Mounajjed, T.; Oxentenko, A.S.; Qureshi, H.; Smyrk, T.C. Revisiting the topic of histochemically detectable copper in various liver diseases with special focus on venous outflow impairment. Am. J. Clin. Pathol., 2013, 139(1), 79-86.
[http://dx.doi.org/10.1309/AJCPDZR4OHDQNG3L] [PMID: 23270902]
[69]
Johncilla, M.; Mitchell, K.A. Pathology of the liver in copper overload. Semin. Liver Dis., 2011, 31(3), 239-244.
[http://dx.doi.org/10.1055/s-0031-1286055] [PMID: 21901654]
[70]
Guindi, M. Wilson disease. Semin. Diagn. Pathol., 2019, 36(6), 415-422.
[http://dx.doi.org/10.1053/j.semdp.2019.07.008] [PMID: 31421978]
[71]
Pronicki, M. Wilson disease - liver pathology. Handb. Clin. Neurol., 2017, 142, 71-75.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00007-0] [PMID: 28433112]
[72]
Santos, B.C.; Guedes, L.R.; Faria, L.C.; Couto, C.A. Wilson’s disease presentation resembling autoimmune hepatitis. BMJ Case Rep., 2019, 12(10), e230721.
[http://dx.doi.org/10.1136/bcr-2019-230721] [PMID: 31653624]
[73]
Lech, T.; Sadlik, J.K. Copper concentration in body tissues and fluids in normal subjects of southern Poland. Biol. Trace Elem. Res., 2007, 118(1), 10-15.
[http://dx.doi.org/10.1007/s12011-007-0014-z] [PMID: 17848725]
[74]
Horoupian, D.S.; Sternlieb, I.; Scheinberg, I.H. Neuropathological findings in penicillamine-treated patients with Wilson’s disease. Clin. Neuropathol., 1988, 7(2), 62-67.
[PMID: 3390974]
[75]
Poujois, A.; Mikol, J.; Woimant, F. Wilson disease: brain pathology. Handb. Clin. Neurol., 2017, 142, 77-89.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00008-2] [PMID: 28433113]
[76]
Faa, G.; Lisci, M.; Caria, M.P.; Ambu, R.; Sciot, R.; Nurchi, V.M.; Silvagni, R.; Diaz, A.; Crisponi, G. Brain copper, iron, magnesium, zinc, calcium, sulfur and phosphorus storage in Wilson’s disease. J. Trace Elem. Med. Biol., 2001, 15(2-3), 155-160.
[http://dx.doi.org/10.1016/S0946-672X(01)80060-2] [PMID: 11787982]
[77]
Litwin, T.; Gromadzka, G.; Szpak, G.M.; Jabłonka-Salach, K.; Bulska, E.; Członkowska, A. Brain metal accumulation in Wilson’s disease. J. Neurol. Sci., 2013, 329(1-2), 55-58.
[http://dx.doi.org/10.1016/j.jns.2013.03.021] [PMID: 23597670]
[78]
Hu, H.L.; Ni, X.S.; Duff-Canning, S.; Wang, X.P. Oxidative damage of copper chloride overload to the cultured rat astrocytes. Am. J. Transl. Res., 2016, 8(2), 1273-1280.
[PMID: 27158414]
[79]
Scheiber, I.F.; Dringen, R. Copper-treatment increases the cellular GSH content and accelerates GSH export from cultured rat astrocytes. Neurosci. Lett., 2011, 498(1), 42-46.
[http://dx.doi.org/10.1016/j.neulet.2011.04.058] [PMID: 21571036]
[80]
Tiffany-Castiglioni, E.; Hong, S.; Qian, Y. Copper handling by astrocytes: insights into neurodegenerative diseases. Int. J. Dev. Neurosci., 2011, 29(8), 811-818.
[http://dx.doi.org/10.1016/j.ijdevneu.2011.09.004] [PMID: 21968186]
[81]
Pal, A.; Badyal, R.K.; Vasishta, R.K.; Attri, S.V.; Thapa, B.R.; Prasad, R. Biochemical, histological, and memory impairment effects of chronic copper toxicity: a model for non-Wilsonian brain copper toxicosis in Wistar rat. Biol. Trace Elem. Res., 2013, 153(1-3), 257-268.
[http://dx.doi.org/10.1007/s12011-013-9665-0] [PMID: 23613148]
[82]
Bertrand, E.; Lewandowska, E.; Szpak, G.M.; Hoogenraad, T.; Blaauwgers, H.G.; Członkowska, A.; Dymecki, J. Neuropathological analysis of pathological forms of astroglia in Wilson’s disease. Folia Neuropathol., 2001, 39(2), 73-79.
[PMID: 11680638]
[83]
Pal, A.; Prasad, R. Recent discoveries on the functions of astrocytes in the copper homeostasis of the brain: a brief update. Neurotox. Res., 2014, 26(1), 78-84.
[http://dx.doi.org/10.1007/s12640-013-9453-9] [PMID: 24385258]
[84]
Sinha, S.; Taly, A.B.; Ravishankar, S.; Prashanth, L.K.; Venugopal, K.S.; Arunodaya, G.R.; Vasudev, M.K.; Swamy, H.S. Wilson’s disease: cranial MRI observations and clinical correlation. Neuroradiology, 2006, 48(9), 613-621.
[http://dx.doi.org/10.1007/s00234-006-0101-4] [PMID: 16752136]
[85]
Mikol, J.; Vital, C.; Wassef, M.; Chappuis, P.; Poupon, J.; Lecharpentier, M.; Woimant, F. Extensive cortico-subcortical lesions in Wilson’s disease: clinico-pathological study of two cases. Acta Neuropathol., 2005, 110(5), 451-458.
[http://dx.doi.org/10.1007/s00401-005-1061-1] [PMID: 16195917]
[86]
Prashanth, L.K.; Sinha, S.; Taly, A.B.; A, Mahadevan Vasudev, M.K.; Shankar, S.K. Spectrum of epilepsy in Wilson’s disease with electroencephalographic, MR imaging and pathological correlates. J. Neurol. Sci., 2010, 291(1-2), 44-51.
[http://dx.doi.org/10.1016/j.jns.2010.01.007] [PMID: 20116809]
[87]
Dong, Y.; Shi, S.S.; Chen, S.; Ni, W.; Zhu, M.; Wu, Z.Y. The discrepancy between the absence of copper deposition and the presence of neuronal damage in the brain of Atp7b(-/-) mice. Metallomics, 2015, 7(2), 283-288.
[http://dx.doi.org/10.1039/C4MT00242C] [PMID: 25594375]
[88]
Dusek, P.; Roos, P.M.; Litwin, T.; Schneider, S.A.; Flaten, T.P.; Aaseth, J. The neurotoxicity of iron, copper and manganese in Parkinson’s and Wilson’s diseases. J. Trace Elem. Med. Biol., 2015, 31, 193-203.
[http://dx.doi.org/10.1016/j.jtemb.2014.05.007] [PMID: 24954801]
[89]
Dusek, P.; Bahn, E.; Litwin, T.; Jabłonka-Salach, K.; Łuciuk, A.; Huelnhagen, T.; Madai, V.I.; Dieringer, M.A.; Bulska, E.; Knauth, M.; Niendorf, T.; Sobesky, J.; Paul, F.; Schneider, S.A.; Czlonkowska, A.; Brück, W.; Wegner, C.; Wuerfel, J. Brain iron accumulation in Wilson disease: a post mortem 7 Tesla MRI - histopathological study. Neuropathol. Appl. Neurobiol., 2017, 43(6), 514-532.
[http://dx.doi.org/10.1111/nan.12341] [PMID: 27543917]
[90]
Bruehlmeier, M.; Leenders, K.L.; Vontobel, P.; Calonder, C.; Antonini, A.; Weindl, A. Increased cerebral iron uptake in Wilson’s disease: a 52Fe-citrate PET study. J. Nucl. Med., 2000, 41(5), 781-787.
[PMID: 10809192]
[91]
Abuduxikuer, K.; Li, L.T.; Qiu, Y.L.; Wang, N.L.; Wang, J.S. Wilson disease with hepatic presentation in an eight-month-old boy. World J. Gastroenterol., 2015, 21(29), 8981-8984.
[http://dx.doi.org/10.3748/wjg.v21.i29.8981] [PMID: 26269689]
[92]
Członkowska, A.; Rodo, M.; Gromadzka, G. Late onset Wilson’s disease: therapeutic implications. Mov. Disord., 2008, 23(6), 896-898.
[http://dx.doi.org/10.1002/mds.21985] [PMID: 18311837]
[93]
Schilsky, M.L.; Scheinberg, I.H.; Sternlieb, I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology, 1991, 100(3), 762-767.
[http://dx.doi.org/10.1016/0016-5085(91)80023-3] [PMID: 1993498]
[94]
Boga, S.; Ala, A.; Schilsky, M.L. Hepatic features of Wilson disease. Handb. Clin. Neurol., 2017, 142, 91-99.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00009-4] [PMID: 28433114]
[95]
Forman, S.J.; Kumar, K.S.; Redeker, A.G.; Hochstein, P. Hemolytic anemia in Wilson disease: clinical findings and biochemical mechanisms. Am. J. Hematol., 1980, 9(3), 269-275.
[http://dx.doi.org/10.1002/ajh.2830090305] [PMID: 7234865]
[96]
Walshe, J.M. The acute haemolytic syndrome in Wilson’s disease--a review of 22 patients. QJM, 2013, 106(11), 1003-1008.
[http://dx.doi.org/10.1093/qjmed/hct137] [PMID: 23842488]
[97]
Saito, T. Presenting symptoms and natural history of Wilson disease. Eur. J. Pediatr., 1987, 146(3), 261-265.
[http://dx.doi.org/10.1007/BF00716470] [PMID: 3595645]
[98]
Eisenbach, C.; Sieg, O.; Stremmel, W.; Encke, J.; Merle, U. Diagnostic criteria for acute liver failure due to Wilson disease. World J. Gastroenterol., 2007, 13(11), 1711-1714.
[http://dx.doi.org/10.3748/wjg.v13.i11.1711] [PMID: 17461475]
[99]
Ostapowicz, G.; Fontana, R.J.; Schiødt, F.V.; Larson, A.; Davern, T.J.; Han, S.H.; McCashland, T.M.; Shakil, A.O.; Hay, J.E.; Hynan, L.; Crippin, J.S.; Blei, A.T.; Samuel, G.; Reisch, J.; Lee, W.M.; Group, U.S.A.L.F.S.U.S. Acute Liver Failure Study Group. Results of a prospective study of acute liver failure at 17 tertiary care centers in the United States. Ann. Intern. Med., 2002, 137(12), 947-954.
[http://dx.doi.org/10.7326/0003-4819-137-12-200212170-00007] [PMID: 12484709]
[100]
Wong, R.J.; Gish, R.; Schilsky, M.; Frenette, C. A clinical assessment of Wilson disease in patients with concurrent liver disease. J. Clin. Gastroenterol., 2011, 45(3), 267-273.
[http://dx.doi.org/10.1097/MCG.0b013e3181dffaa5] [PMID: 20535024]
[101]
Wilkinson, M.L.; Portmann, B.; Williams, R. Wilson’s disease and hepatocellular carcinoma: possible protective role of copper. Gut, 1983, 24(8), 767-771.
[http://dx.doi.org/10.1136/gut.24.8.767] [PMID: 6307837]
[102]
van Meer, S.; de Man, R.A.; van den Berg, A.P.; Houwen, R.H.; Linn, F.H.; van Oijen, M.G.; Siersema, P.D.; van Erpecum, K.J. No increased risk of hepatocellular carcinoma in cirrhosis due to Wilson disease during long-term follow-up. J. Gastroenterol. Hepatol., 2015, 30(3), 535-539.
[http://dx.doi.org/10.1111/jgh.12716] [PMID: 25160780]
[103]
Walshe, J.M.; Waldenström, E.; Sams, V.; Nordlinder, H.; Westermark, K. Abdominal malignancies in patients with Wilson’s disease. QJM, 2003, 96(9), 657-662.
[http://dx.doi.org/10.1093/qjmed/hcg114] [PMID: 12925721]
[104]
Pfeiffenberger, J.; Mogler, C.; Gotthardt, D.N.; Schulze-Bergkamen, H.; Litwin, T.; Reuner, U.; Hefter, H.; Huster, D.; Schemmer, P.; Członkowska, A.; Schirmacher, P.; Stremmel, W.; Cassiman, D.; Weiss, K.H. Hepatobiliary malignancies in Wilson disease. Liver Int., 2015, 35(5), 1615-1622.
[http://dx.doi.org/10.1111/liv.12727] [PMID: 25369181]
[105]
Członkowska, A.; Litwin, T.; Chabik, G. Wilson disease: neurologic features. Handb. Clin. Neurol., 2017, 142, 101-119.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00010-0] [PMID: 28433096]
[106]
Lorincz, M.T. Neurologic Wilson’s disease. Ann. N. Y. Acad. Sci., 2010, 1184, 173-187.
[http://dx.doi.org/10.1111/j.1749-6632.2009.05109.x] [PMID: 20146697]
[107]
Svetel, M.; Kozić, D.; Stefanova, E.; Semnic, R.; Dragasevic, N.; Kostic, V.S. Dystonia in Wilson’s disease. Mov. Disord., 2001, 16(4), 719-723.
[http://dx.doi.org/10.1002/mds.1118] [PMID: 11481698]
[108]
Soltanzadeh, A.; Soltanzadeh, P.; Nafissi, S.; Ghorbani, A.; Sikaroodi, H.; Lotfi, J. Wilson’s disease: a great masquerader. Eur. Neurol., 2007, 57(2), 80-85.
[http://dx.doi.org/10.1159/000098056] [PMID: 17179709]
[109]
Machado, A.; Chien, H.F.; Deguti, M.M.; Cançado, E.; Azevedo, R.S.; Scaff, M.; Barbosa, E.R. Neurological manifestations in Wilson’s disease: Report of 119 cases. Mov. Disord., 2006, 21(12), 2192-2196.
[http://dx.doi.org/10.1002/mds.21170] [PMID: 17078070]
[110]
Dening, T.R.; Berrios, G.E.; Walshe, J.M. Wilson’s disease and epilepsy. Brain, 1988, 111(Pt 5), 1139-1155.
[http://dx.doi.org/10.1093/brain/111.5.1139] [PMID: 3052696]
[111]
Benbir, G.; Gunduz, A.; Ertan, S.; Ozkara, C. Partial status epilepticus induced by hypocupremia in a patient with Wilson’s disease. Seizure, 2010, 19(9), 602-604.
[http://dx.doi.org/10.1016/j.seizure.2010.07.018] [PMID: 20732822]
[112]
Zimbrean, P.C.; Schilsky, M.L. Psychiatric aspects of Wilson disease: a review. Gen. Hosp. Psychiatry, 2014, 36(1), 53-62.
[http://dx.doi.org/10.1016/j.genhosppsych.2013.08.007] [PMID: 24120023]
[113]
Srinivas, K.; Sinha, S.; Taly, A.B.; Prashanth, L.K.; Arunodaya, G.R.; Janardhana Reddy, Y.C.; Khanna, S. Dominant psychiatric manifestations in Wilson’s disease: a diagnostic and therapeutic challenge! J. Neurol. Sci., 2008, 266(1-2), 104-108.
[http://dx.doi.org/10.1016/j.jns.2007.09.009] [PMID: 17904160]
[114]
Wenisch, E.; De Tassigny, A.; Trocello, J.M.; Beretti, J.; Girardot-Tinant, N.; Woimant, F. Cognitive profile in Wilson’s disease: a case series of 31 patients. Rev. Neurol. (Paris), 2013, 169(12), 944-949.
[http://dx.doi.org/10.1016/j.neurol.2013.06.002] [PMID: 24120329]
[115]
Seniów, J.; Bak, T.; Gajda, J.; Poniatowska, R.; Czlonkowska, A. Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson’s disease. Mov. Disord., 2002, 17(5), 1077-1083.
[http://dx.doi.org/10.1002/mds.10195] [PMID: 12360563]
[116]
Iwański, S.; Seniów, J.; Leśniak, M.; Litwin, T.; Członkowska, A. Diverse attention deficits in patients with neurologically symptomatic and asymptomatic Wilson’s disease. Neuropsychology, 2015, 29(1), 25-30.
[http://dx.doi.org/10.1037/neu0000103] [PMID: 24885450]
[117]
Sridhar, M.S. Advantages of Anterior Segment Optical Coherence Tomography Evaluation of the Kayser-Fleischer Ring in Wilson Disease. Cornea, 2017, 36(3), 343-346.
[http://dx.doi.org/10.1097/ICO.0000000000001126] [PMID: 28060027]
[118]
Broniek-Kowalik, K.; Dzieżyc, K.; Litwin, T.; Członkowska, A.; Szaflik, J.P. Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease. Acta Ophthalmol., 2019, 97(5), e757-e760.
[http://dx.doi.org/10.1111/aos.14009] [PMID: 30635971]
[119]
Langwińska-Wośko, E.; Litwin, T.; Szulborski, K.; Członkowska, A. Optical coherence tomography and electrophysiology of retinal and visual pathways in Wilson’s disease. Metab. Brain Dis., 2016, 31(2), 405-415.
[http://dx.doi.org/10.1007/s11011-015-9776-8] [PMID: 26686677]
[120]
Langwińska-Wośko, E.; Litwin, T.; Dzieżyc, K.; Karlinski, M.; Członkowska, A. Optical coherence tomography as a marker of neurodegeneration in patients with Wilson’s disease. Acta Neurol. Belg., 2017, 117(4), 867-871.
[http://dx.doi.org/10.1007/s13760-017-0788-5] [PMID: 28488258]
[121]
Dzieżyc, K.; Litwin, T.; Członkowska, A. Other organ involvement and clinical aspects of Wilson disease. Handb. Clin. Neurol., 2017, 142, 157-169.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00013-6] [PMID: 28433099]
[122]
Buksińska-Lisik, M.; Litwin, T.; Pasierski, T.; Członkowska, A. Cardiac assessment in Wilson’s disease patients based on electrocardiography and echocardiography examination. Arch. Med. Sci., 2019, 15(4), 857-864.
[http://dx.doi.org/10.5114/aoms.2017.69728] [PMID: 31360180]
[123]
Quick, S.; Weidauer, M.; Heidrich, F.M.; Sveric, K.; Reichmann, H.; Ibrahim, K.; Strasser, R.H.; Linke, A.; Speiser, U.; Reuner, U. Cardiac Manifestation of Wilson’s Disease. J. Am. Coll. Cardiol., 2018, 72(22), 2808-2809.
[http://dx.doi.org/10.1016/j.jacc.2018.08.2197] [PMID: 30497569]
[124]
Ferenci, P.; Caca, K.; Loudianos, G.; Mieli-Vergani, G.; Tanner, S.; Sternlieb, I.; Schilsky, M.; Cox, D.; Berr, F. Diagnosis and phenotypic classification of Wilson disease. Liver Int., 2003, 23(3), 139-142.
[http://dx.doi.org/10.1034/j.1600-0676.2003.00824.x] [PMID: 12955875]
[125]
Xu, X.; Pin, S.; Gathinji, M.; Fuchs, R.; Harris, Z.L. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann. N. Y. Acad. Sci., 2004, 1012, 299-305.
[http://dx.doi.org/10.1196/annals.1306.024] [PMID: 15105274]
[126]
Tümer, Z.; Møller, L.B. Menkes disease. Eur. J. Hum. Genet., 2010, 18(5), 511-518.
[http://dx.doi.org/10.1038/ejhg.2009.187] [PMID: 19888294]
[127]
Gromadzka, G.; Chabik, G.; Mendel, T.; Wierzchowska, A.; Rudnicka, M.; Czlonkowska, A. Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism. J. Genet., 2010, 89(4), 463-467.
[http://dx.doi.org/10.1007/s12041-010-0065-3] [PMID: 21273697]
[128]
Poujois, A.; Woimant, F. Wilson’s disease: A 2017 update. Clin. Res. Hepatol. Gastroenterol., 2018, 42(6), 512-520.
[http://dx.doi.org/10.1016/j.clinre.2018.03.007] [PMID: 29625923]
[129]
El Balkhi, S.; Poupon, J.; Trocello, J.M.; Leyendecker, A.; Massicot, F.; Galliot-Guilley, M.; Woimant, F. Determination of ultrafiltrable and exchangeable copper in plasma: stability and reference values in healthy subjects. Anal. Bioanal. Chem., 2009, 394(5), 1477-1484.
[http://dx.doi.org/10.1007/s00216-009-2809-6] [PMID: 19421744]
[130]
El Balkhi, S.; Trocello, J.M.; Poupon, J.; Chappuis, P.; Massicot, F.; Girardot-Tinant, N.; Woimant, F. Relative exchangeable copper: a new highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Clin. Chim. Acta, 2011, 412(23-24), 2254-2260.
[http://dx.doi.org/10.1016/j.cca.2011.08.019] [PMID: 21878323]
[131]
Nicastro, E.; Ranucci, G.; Vajro, P.; Vegnente, A.; Iorio, R. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology, 2010, 52(6), 1948-1956.
[http://dx.doi.org/10.1002/hep.23910] [PMID: 20967755]
[132]
Martins da Costa, C.; Baldwin, D.; Portmann, B.; Lolin, Y.; Mowat, A.P.; Mieli-Vergani, G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson’s disease. Hepatology, 1992, 15(4), 609-615.
[http://dx.doi.org/10.1002/hep.1840150410] [PMID: 1551638]
[133]
Ferenci, P.; Steindl-Munda, P.; Vogel, W.; Jessner, W.; Gschwantler, M.; Stauber, R.; Datz, C.; Hackl, F.; Wrba, F.; Bauer, P.; Lorenz, O. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s Disease. Clin. Gastroenterol. Hepatol., 2005, 3(8), 811-818.
[http://dx.doi.org/10.1016/S1542-3565(05)00181-3] [PMID: 16234011]
[134]
King, A.D.; Walshe, J.M.; Kendall, B.E.; Chinn, R.J.; Paley, M.N.; Wilkinson, I.D.; Halligan, S.; Hall-Craggs, M.A. Cranial MR imaging in Wilson’s disease. AJR Am. J. Roentgenol., 1996, 167(6), 1579-1584.
[http://dx.doi.org/10.2214/ajr.167.6.8956601] [PMID: 8956601]
[135]
Kozić, D.; Svetel, M.; Petrović, B.; Dragasević, N.; Semnic, R.; Kostić, V.S. MR imaging of the brain in patients with hepatic form of Wilson’s disease. Eur. J. Neurol., 2003, 10(5), 587-592.
[http://dx.doi.org/10.1046/j.1468-1331.2003.00661.x] [PMID: 12940844]
[136]
Litwin, T.; Dzieżyc, K.; Poniatowska, R.; Członkowska, A. Effect of liver transplantation on brain magnetic resonance imaging pathology in Wilson disease: a case report. Neurol. Neurochir. Pol., 2013, 47(4), 393-397.
[http://dx.doi.org/10.5114/ninp.2013.36763] [PMID: 23986430]
[137]
Dusek, P.; Smolinski, L.; Redzia-Ogrodnik, B.; Golebiowski, M.; Skowronska, M.; Poujois, A.; Laurencin, C.; Jastrzebska-Kurkowska, I.; Litwin, T.; Członkowska, A. Semiquantitative scale for assessing brain MRI Abnormalities in Wilson Disease: A Validation Study. Mov. Disord., 2020.
[http://dx.doi.org/10.1002/mds.28018] [PMID: 32181965]
[138]
Skowrońska, M.; Litwin, T.; Dzieżyc, K.; Wierzchowska, A.; Członkowska, A. Does brain degeneration in Wilson disease involve not only copper but also iron accumulation? Neurol. Neurochir. Pol., 2013, 47(6), 542-546.
[http://dx.doi.org/10.5114/ninp.2013.39071] [PMID: 24374999]
[139]
Bai, X.; Wang, G.; Wu, L.; Liu, Y.; Cui, L.; Shi, H.; Guo, L. Deep-gray nuclei susceptibility-weighted imaging filtered phase shift in patients with Wilson’s disease. Pediatr. Res., 2014, 75(3), 436-442.
[http://dx.doi.org/10.1038/pr.2013.239] [PMID: 24477071]
[140]
Wang, Y.; Spincemaille, P.; Liu, Z.; Dimov, A.; Deh, K.; Li, J.; Zhang, Y.; Yao, Y.; Gillen, K.M.; Wilman, A.H.; Gupta, A.; Tsiouris, A.J.; Kovanlikaya, I.; Chiang, G.C.; Weinsaft, J.W.; Tanenbaum, L.; Chen, W.; Zhu, W.; Chang, S.; Lou, M.; Kopell, B.H.; Kaplitt, M.G.; Devos, D.; Hirai, T.; Huang, X.; Korogi, Y.; Shtilbans, A.; Jahng, G.H.; Pelletier, D.; Gauthier, S.A.; Pitt, D.; Bush, A.I.; Brittenham, G.M.; Prince, M.R. Clinical quantitative susceptibility mapping (QSM): Biometal imaging and its emerging roles in patient care. J. Magn. Reson. Imaging, 2017, 46(4), 951-971.
[http://dx.doi.org/10.1002/jmri.25693] [PMID: 28295954]
[141]
Fritzsch, D.; Reiss-Zimmermann, M.; Trampel, R.; Turner, R.; Hoffmann, K.T.; Schäfer, A. Seven-tesla magnetic resonance imaging in Wilson disease using quantitative susceptibility mapping for measurement of copper accumulation. Invest. Radiol., 2014, 49(5), 299-306.
[http://dx.doi.org/10.1097/RLI.0000000000000010] [PMID: 24220252]
[142]
Saracoglu, S.; Gumus, K.; Doganay, S.; Koc, G.; Kacar Bayram, A.; Arslan, D.; Gumus, H. Brain susceptibility changes in neurologically asymptomatic pediatric patients with Wilson’s disease: evaluation with quantitative susceptibility mapping. Acta Radiol., 2018, 59(11), 1380-1385.
[http://dx.doi.org/10.1177/0284185118759821] [PMID: 29482344]
[143]
Doganay, S.; Gumus, K.; Koc, G.; Bayram, A.K.; Dogan, M.S.; Arslan, D.; Gumus, H.; Gorkem, S.B.; Ciraci, S.; Serin, H.I.; Coskun, A. Magnetic susceptibility changes in the basal ganglia and brain stem of patients with Wilson’s Disease: evaluation with quantitative susceptibility mapping. Magn. Reson. Med. Sci., 2018, 17(1), 73-79.
[http://dx.doi.org/10.2463/mrms.mp.2016-0145] [PMID: 28515413]
[144]
Martínez-Fernández, R.; Caballol, N.; Gómez-Choco, M. MRI and transcranial sonography findings in Wilson’s disease. Mov. Disord., 2013, 28(6), 740.
[http://dx.doi.org/10.1002/mds.25492] [PMID: 23712499]
[145]
Tarnacka, B.; Szeszkowski, W.; Golebiowski, M.; Czlonkowska, A. MR spectroscopy in monitoring the treatment of Wilson’s disease patients. Mov. Disord., 2008, 23(11), 1560-1566.
[http://dx.doi.org/10.1002/mds.22163] [PMID: 18546325]
[146]
Ferenci, P. Diagnosis of Wilson disease. Handb. Clin. Neurol., 2017, 142, 171-180.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00014-8] [PMID: 28433100]
[147]
Dzieżyc, K.; Litwin, T.; Chabik, G.; Gramza, K.; Członkowska, A. Families with Wilson’s disease in subsequent generations: clinical and genetic analysis. Mov. Disord., 2014, 29(14), 1828-1832.
[http://dx.doi.org/10.1002/mds.26057] [PMID: 25327413]
[148]
Dzieżyc, K.; Karliński, M.; Litwin, T.; Członkowska, A. Compliant treatment with anti-copper agents prevents clinically overt Wilson’s disease in pre-symptomatic patients. Eur. J. Neurol., 2014, 21(2), 332-337.
[http://dx.doi.org/10.1111/ene.12320] [PMID: 24313946]
[149]
Roberts, E.A.; Schilsky, M.L. American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology, 2008, 47(6), 2089-2111.
[http://dx.doi.org/10.1002/hep.22261] [PMID: 18506894]
[150]
Heilmaier, H.E.; Jiang, J.L.; Greim, H.; Schramel, P.; Summer, K.H. D-penicillamine induces rat hepatic metallothionein. Toxicology, 1986, 42(1), 23-31.
[http://dx.doi.org/10.1016/0300-483X(86)90089-2] [PMID: 3798457]
[151]
Członkowska, A.; Litwin, T. Wilson disease - currently used anticopper therapy. Handb. Clin. Neurol., 2017, 142, 181-191.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00015-X] [PMID: 28433101]
[152]
Merle, U.; Schaefer, M.; Ferenci, P.; Stremmel, W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut, 2007, 56(1), 115-120.
[http://dx.doi.org/10.1136/gut.2005.087262] [PMID: 16709660]
[153]
Weiss, K.H.; Gotthardt, D.N.; Klemm, D.; Merle, U.; Ferenci-Foerster, D.; Schaefer, M.; Ferenci, P.; Stremmel, W. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology, 2011, 140(4), 1189-1198.e1181.
[http://dx.doi.org/10.1053/j.gastro.2010.12.034]]
[154]
Brewer, G.J.; Terry, C.A.; Aisen, A.M.; Hill, G.M. Worsening of neurologic syndrome in patients with Wilson’s disease with initial penicillamine therapy. Arch. Neurol., 1987, 44(5), 490-493.
[http://dx.doi.org/10.1001/archneur.1987.00520170020016] [PMID: 3579660]
[155]
Ala, A.; Walker, A.P.; Ashkan, K.; Dooley, J.S.; Schilsky, M.L. Wilson’s disease. Lancet, 2007, 369(9559), 397-408.
[http://dx.doi.org/10.1016/S0140-6736(07)60196-2] [PMID: 17276780]
[156]
Medici, V.; Trevisan, C.P.; D’Incà, R.; Barollo, M.; Zancan, L.; Fagiuoli, S.; Martines, D.; Irato, P.; Sturniolo, G.C. Diagnosis and management of Wilson’s disease: results of a single center experience. J. Clin. Gastroenterol., 2006, 40(10), 936-941.
[http://dx.doi.org/10.1097/01.mcg.0000225670.91722.59] [PMID: 17063115]
[157]
Walshe, J.M. Treatment of Wilson’s disease with trientine (triethylene tetramine) dihydrochloride. Lancet, 1982, 1(8273), 643-647.
[http://dx.doi.org/10.1016/S0140-6736(82)92201-2] [PMID: 6121964]
[158]
Santos Silva, E.E.; Sarles, J.; Buts, J.P.; Sokal, E.M. Successful medical treatment of severely decompensated Wilson disease. J. Pediatr., 1996, 128(2), 285-287.
[http://dx.doi.org/10.1016/S0022-3476(96)70412-2] [PMID: 8636833]
[159]
Brewer, G.J.; Askari, F.; Lorincz, M.T.; Carlson, M.; Schilsky, M.; Kluin, K.J.; Hedera, P.; Moretti, P.; Fink, J.K.; Tankanow, R.; Dick, R.B.; Sitterly, J. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch. Neurol., 2006, 63(4), 521-527.
[http://dx.doi.org/10.1001/archneur.63.4.521] [PMID: 16606763]
[160]
Weiss, K.H.; Thurik, F.; Gotthardt, D.N.; Schafer, M.; Teufel, U.; Wiegand, F.; Merle, U.; Ferenci-Foerster, D.; Maieron, A.; Stauber, R.; Zoller, H.; Schmidt, H.H.; Reuner, U.; Hefter, H.; Trocello, J.M.; Houwen, R.H.; Ferenci, P.; Stremmel, W.; Consortium, E. Efficacy and safety of oral chelators in treatment of patients with Wilson Dsease. Clin. Gastroenterol. Hepatol., 2013, 11(8), 1028-1035.e1021-1022
[http://dx.doi.org/10.1016/j.cgh.2013.03.012]
[161]
Brewer, G.J.; Dick, R.D.; Johnson, V.; Wang, Y.; Yuzbasiyan-Gurkan, V.; Kluin, K.; Fink, J.K.; Aisen, A. Treatment of Wilson’s disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients. Arch. Neurol., 1994, 51(6), 545-554.
[http://dx.doi.org/10.1001/archneur.1994.00540180023009] [PMID: 8198464]
[162]
Brewer, G.J.; Hedera, P.; Kluin, K.J.; Carlson, M.; Askari, F.; Dick, R.B.; Sitterly, J.; Fink, J.K. Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch. Neurol., 2003, 60(3), 379-385.
[http://dx.doi.org/10.1001/archneur.60.3.379] [PMID: 12633149]
[163]
Weiss, K.H.; Askari, F.K.; Czlonkowska, A.; Ferenci, P.; Bronstein, J.M.; Bega, D.; Ala, A.; Nicholl, D.; Flint, S.; Olsson, L.; Plitz, T.; Bjartmar, C.; Schilsky, M.L. Bis-choline tetrathiomolybdate in patients with Wilson’s disease: an open-label, multicentre, phase 2 study. Lancet Gastroenterol. Hepatol., 2017, 2(12), 869-876.
[http://dx.doi.org/10.1016/S2468-1253(17)30293-5] [PMID: 28988934]
[164]
Schilsky, M.L.; Blank, R.R.; Czaja, M.J.; Zern, M.A.; Scheinberg, I.H.; Stockert, R.J.; Sternlieb, I. Hepatocellular copper toxicity and its attenuation by zinc. J. Clin. Invest., 1989, 84(5), 1562-1568.
[http://dx.doi.org/10.1172/JCI114333] [PMID: 2478589]
[165]
Hoogenraad, T.U. Paradigm shift in treatment of Wilson’s disease: zinc therapy now treatment of choice. Brain Dev., 2006, 28(3), 141-146.
[http://dx.doi.org/10.1016/j.braindev.2005.08.008] [PMID: 16466879]
[166]
Czlonkowska, A.; Gajda, J.; Rodo, M. Effects of long-term treatment in Wilson’s disease with D-penicillamine and zinc sulphate. J. Neurol., 1996, 243(3), 269-273.
[http://dx.doi.org/10.1007/BF00868525] [PMID: 8936358]
[167]
Członkowska, A.; Litwin, T.; Karliński, M.; Dziezyc, K.; Chabik, G.; Czerska, M. D-penicillamine versus zinc sulfate as first-line therapy for Wilson’s disease. Eur. J. Neurol., 2014, 21(4), 599-606.
[http://dx.doi.org/10.1111/ene.12348] [PMID: 24447648]
[168]
Zaino, D.; Chiarotti, I.; Battisti, C.; Salvatore, S.; Federico, A.; Cerase, A. Six-year clinical and MRI quantitative susceptibility mapping (QSM) follow-up in neurological Wilson’s disease under zinc therapy: a case report. Neurol. Sci., 2019, 40(1), 199-201.
[http://dx.doi.org/10.1007/s10072-018-3557-1] [PMID: 30209700]
[169]
Ren, M.; Yang, R. Clinical curative effects of dimercaptosuccinic acid on hepatolenticular degeneration and the impact of DMSA on biliary trace elements. Chin. Med. J. (Engl.), 1997, 110(9), 694-697.
[PMID: 9642327]
[170]
Li, W.J.; Chen, C.; You, Z.F.; Yang, R.M.; Wang, X.P. Current Drug Managements of Wilson’s Disease: From West to East. Curr. Neuropharmacol., 2016, 14(4), 322-325.
[http://dx.doi.org/10.2174/1570159X14666151130222427] [PMID: 26639459]
[171]
Wang, X.P.; Yang, R.M.; Ren, M.S.; Sun, B.M. Anticopper efficacy of captopril and sodium dimercaptosulphonate in patients with Wilson’s disease. Funct. Neurol., 2003, 18(3), 149-153.
[PMID: 14703896]
[172]
Xu, S.Q.; Li, X.F.; Zhu, H.Y.; Liu, Y.; Fang, F.; Chen, L. Clinical efficacy and safety of chelation treatment with typical penicillamine in cross combination with DMPS repeatedly for Wilson’s disease. J. Huazhong Univ. Sci. Technolog. Med. Sci., 2013, 33(5), 743-747.
[http://dx.doi.org/10.1007/s11596-013-1190-z] [PMID: 24142730]
[173]
Wang, X.P.; Zhang, W.F.; Huang, H.Y.; Preter, M. Neurology in the People’s Republic of China--an update. Eur. Neurol., 2010, 64(6), 320-324.
[http://dx.doi.org/10.1159/000321648] [PMID: 21071947]
[174]
Wang, Y.; Xie, C.L.; Fu, D.L.; Lu, L.; Lin, Y.; Dong, Q.Q.; Wang, X.T.; Zheng, G.Q. Clinical efficacy and safety of Chinese herbal medicine for Wilson’s disease: a systematic review of 9 randomized controlled trials. Complement. Ther. Med., 2012, 20(3), 143-154.
[http://dx.doi.org/10.1016/j.ctim.2011.12.004] [PMID: 22500664]
[175]
Li, W.J.; Wang, J.F.; Wang, X.P. Wilson’s disease: update on integrated Chinese and Western medicine. Chin. J. Integr. Med., 2013, 19(3), 233-240.
[http://dx.doi.org/10.1007/s11655-012-1089-8] [PMID: 22610954]
[176]
Litwin, T.; Dzieżyc, K.; Karliński, M.; Chabik, G.; Czepiel, W.; Członkowska, A. Early neurological worsening in patients with Wilson’s disease. J. Neurol. Sci., 2015, 355(1-2), 162-167.
[http://dx.doi.org/10.1016/j.jns.2015.06.010] [PMID: 26071888]
[177]
Li, L.Y.; Zhu, X.Q.; Tao, W.W.; Yang, W.M.; Chen, H.Z.; Wang, Y. Acute onset neurological symptoms in Wilson disease after traumatic, surgical or emotional events: A cross-sectional study. Medicine (Baltimore), 2019, 98(26), e15917.
[http://dx.doi.org/10.1097/MD.0000000000015917]] [PMID: 31261498]
[178]
Masełbas, W.; Członkowska, A.; Litwin, T.; Niewada, M. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol., 2019, 19(1), 278.
[http://dx.doi.org/10.1186/s12883-019-1502-4] [PMID: 31718567]
[179]
Schilsky, M.L. Liver transplantation for Wilson’s disease. Ann. N. Y. Acad. Sci., 2014, 1315, 45-49.
[http://dx.doi.org/10.1111/nyas.12454] [PMID: 24820352]
[180]
Dhawan, A.; Taylor, R.M.; Cheeseman, P.; De Silva, P.; Katsiyiannakis, L.; Mieli-Vergani, G. Wilson’s disease in children: 37-year experience and revised King’s score for liver transplantation. Liver Transpl., 2005, 11(4), 441-448.
[http://dx.doi.org/10.1002/lt.20352] [PMID: 15776453]
[181]
Schilsky, M.L.; Scheinberg, I.H.; Sternlieb, I. Liver transplantation for Wilson’s disease: indications and outcome. Hepatology, 1994, 19(3), 583-587.
[http://dx.doi.org/10.1002/hep.1840190307] [PMID: 8119682]
[182]
Bellary, S.; Hassanein, T.; Van Thiel, D.H. Liver transplantation for Wilson’s disease. J. Hepatol., 1995, 23(4), 373-381.
[http://dx.doi.org/10.1016/0168-8278(95)80194-4] [PMID: 8655953]
[183]
Garoufalia, Z.; Prodromidou, A.; Machairas, N.; Kostakis, I.D.; Stamopoulos, P.; Zavras, N.; Fouzas, I.; Sotiropoulos, G.C. Liver Transplantation for Wilson’s Disease in Non-adult Patients: A Systematic Review. Transplant. Proc., 2019, 51(2), 443-445.
[http://dx.doi.org/10.1016/j.transproceed.2019.01.017] [PMID: 30879562]
[184]
Litwin, T.; Gromadzka, G.; Członkowska, A. Neurological presentation of Wilson’s disease in a patient after liver transplantation. Mov. Disord., 2008, 23(5), 743-746.
[http://dx.doi.org/10.1002/mds.21913] [PMID: 18181205]
[185]
Ahmad, A.; Torrazza-Perez, E.; Schilsky, M.L. Liver transplantation for Wilson disease. Handb. Clin. Neurol., 2017, 142, 193-204.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00016-1] [PMID: 28433103]
[186]
Pfeiffenberger, J.; Weiss, K.H.; Stremmel, W. Wilson disease: symptomatic liver therapy. Handb. Clin. Neurol., 2017, 142, 205-209.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00017-3] [PMID: 28433104]
[187]
Litwin, T.; Dušek, P.; Członkowska, A. Symptomatic treatment of neurologic symptoms in Wilson disease. Handb. Clin. Neurol., 2017, 142, 211-223.
[http://dx.doi.org/10.1016/B978-0-444-63625-6.00018-5] [PMID: 28433105]
[188]
Dusek, P.; Litwin, T.; Członkowska, A. Neurologic impairment in Wilson disease. Ann. Transl. Med., 2019, 7(Suppl. 2), S64.
[http://dx.doi.org/10.21037/atm.2019.02.43] [PMID: 31179301]
[189]
Hedera, P. Treatment of Wilson’s disease motor complications with deep brain stimulation. Ann. N. Y. Acad. Sci., 2014, 1315, 16-23.
[http://dx.doi.org/10.1111/nyas.12372] [PMID: 24547944]
[190]
Litwin, T.; Chabik, G.; Członkowska, A. Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report. Neurol. Neurochir. Pol., 2013, 47(5), 502-506.
[http://dx.doi.org/10.5114/ninp.2013.38230] [PMID: 24166573]
[191]
Litwin, T.; Dusek, P.; Szafrański, T.; Dzieżyc, K.; Członkowska, A.; Rybakowski, J.K. Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Ther. Adv. Psychopharmacol., 2018, 8(7), 199-211.
[http://dx.doi.org/10.1177/2045125318759461] [PMID: 29977520]
[192]
Murillo, O.; Luqui, D.M.; Gazquez, C.; Martinez-Espartosa, D.; Navarro-Blasco, I.; Monreal, J.I.; Guembe, L.; Moreno-Cermeño, A.; Corrales, F.J.; Prieto, J.; Hernandez-Alcoceba, R.; Gonzalez-Aseguinolaza, G. Long-term metabolic correction of Wilson’s disease in a murine model by gene therapy. J. Hepatol., 2016, 64(2), 419-426.
[http://dx.doi.org/10.1016/j.jhep.2015.09.014] [PMID: 26409215]
[193]
Gupta, S. Cell therapy to remove excess copper in Wilson’s disease. Ann. N. Y. Acad. Sci., 2014, 1315, 70-80.
[http://dx.doi.org/10.1111/nyas.12450] [PMID: 24820353]

Rights & Permissions Print Cite
Article Metrics
137
1
World Autism Awareness Day
© 2024 Bentham Science Publishers | Privacy Policy