Relative exchangeable copper: A promising tool for family screening in Wilson disease

ABSTRACT Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson dis...

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Published in	Movement disorders Vol. 29; no. 4; pp. 558 - 562
Main Authors	Trocello, Jean-Marc, El Balkhi, Souleiman, Woimant, France, Girardot-Tinant, Nadège, Chappuis, Philippe, Lloyd, Carla, Poupon, Joël
Format	Journal Article
Language	English
Published	United States Blackwell Publishing Ltd 01.04.2014 Wiley Subscription Services, Inc
Subjects	Adenosine Triphosphatases - genetics Adolescent Adult ATP7B Cation Transport Proteins - genetics Child Child, Preschool Copper - blood Copper-transporting ATPases family screening Female Hepatolenticular Degeneration - blood Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - genetics Humans Male Middle Aged Movement disorders Mutation relative exchangeable copper Wilson disease Young Adult family screening ATP7B Wilson disease relative exchangeable copper
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Abstract	ABSTRACT Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first‐ or second‐degree relatives of the index case underwent clinical examination and biological parameters. Results Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%. Conclusions Exchangeable copper appears to be a promising tool for family screening in Wilson disease. © 2013 International Parkinson and Movement Disorder Society
AbstractList	ABSTRACT Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first‐ or second‐degree relatives of the index case underwent clinical examination and biological parameters. Results Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%. Conclusions Exchangeable copper appears to be a promising tool for family screening in Wilson disease. © 2013 International Parkinson and Movement Disorder Society Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters. Results Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%. Conclusions Exchangeable copper appears to be a promising tool for family screening in Wilson disease. © 2013 International Parkinson and Movement Disorder Society [PUBLICATION ABSTRACT] Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.BACKGROUNDFamily screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.METHODSData from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.RESULTSOf 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.Exchangeable copper appears to be a promising tool for family screening in Wilson disease.CONCLUSIONSExchangeable copper appears to be a promising tool for family screening in Wilson disease. Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters. Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%. Exchangeable copper appears to be a promising tool for family screening in Wilson disease. Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters. Results Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%. Conclusions Exchangeable copper appears to be a promising tool for family screening in Wilson disease. copyright 2013 International Parkinson and Movement Disorder Society
Author	Trocello, Jean-Marc Lloyd, Carla Chappuis, Philippe Girardot-Tinant, Nadège Poupon, Joël El Balkhi, Souleiman Woimant, France
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Cites_doi	10.1007/s00216-009-2809-6 10.1053/j.gastro.2003.05.010 10.1016/S0140-6736(07)60196-2 10.1002/hep.22261 10.1016/j.cca.2011.08.019 10.1016/j.jtemb.2007.11.001 10.1007/s12041-010-0065-3 10.1016/j.jhep.2012.07.011 10.1016/S1542-3565(05)00484-2 10.1016/S0065-2423(10)50008-8 10.1152/physrev.00004.2006 10.1093/nar/gkf493 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J 10.1101/gr.212802 10.1038/ncpneuro0291 10.1016/j.jhep.2011.11.007 10.1002/mds.25290
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References	Brunet AS, Marotte S, Guillaud O, Lachaux A. Familial screening in Wilson's disease: think at the previous generation! J Hepatol. 2012;57:1394-1395. European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012;56:671-685. 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;89:463-467. Ng PC, Henikoff S. Accounting for Human Polymorphisms Predicted to Affect Protein Function. Genome Res. 2002;12:436-446. Ferenci P. Wilson's disease. Clin Gastroenterol Hepatol. 2005,3:726-733. Walshe JM. Monitoring copper in Wilson's disease. Adv Clin Chem. 2010;50:151-163. Gitlin JD. Wilson disease. Gastroenterology. 2003;125:1868-1877. Cox DW. Molecular advances in Wilson disease. Prog Liver Dis. 1996;14:245-264. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894-3900. Okada T, Shiono Y, Hayashi H, et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat. 2000;15:454-462. Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol. 2006;2:482-493. Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev. 2007,87:1011-1046. Twomey PJ, Viljoen A, Reynolds TM, Wierzbicki AS. Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories. J Trace Elem Med Biol. 2008;22:50-53. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089-2111. El Balkhi S, Poupon J, Trocello JM, et al. Determination of ultrafiltrable and exchangeable copper in plasma: stability and reference values in healthy subjects. Anal Bioanal Chem. 2009;394:1477-1484. Denoyer Y, Woimant F, Bost M, Edan G, Drapier S. Neurological Wilson's disease lethal for the son, asymptomatic in the father. Mov Disord. 2013;28:402-403. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408. El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: a new highly sensitive and highly specific biomarker for Wilson's disease diagnosis. Clin Chim Acta. 2011;412:2254-2260. 2010; 89 2011; 412 2007; 369 2013; 28 2002; 30 2000; 15 2002; 12 2008; 47 2008; 22 2009; 394 2005; 3 2006; 2 1996; 14 2007; 87 2003; 125 2012; 57 2012; 56 2010; 50 e_1_2_8_17_1 e_1_2_8_18_1 e_1_2_8_19_1 e_1_2_8_14_1 Cox DW (e_1_2_8_13_1) 1996; 14 e_1_2_8_15_1 e_1_2_8_16_1 e_1_2_8_3_1 e_1_2_8_2_1 e_1_2_8_5_1 e_1_2_8_4_1 e_1_2_8_7_1 e_1_2_8_6_1 e_1_2_8_9_1 e_1_2_8_8_1 e_1_2_8_10_1 e_1_2_8_11_1 e_1_2_8_12_1
References_xml	– reference: Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894-3900. – reference: Ng PC, Henikoff S. Accounting for Human Polymorphisms Predicted to Affect Protein Function. Genome Res. 2002;12:436-446. – reference: Gitlin JD. Wilson disease. Gastroenterology. 2003;125:1868-1877. – reference: 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;89:463-467. – reference: El Balkhi S, Poupon J, Trocello JM, et al. Determination of ultrafiltrable and exchangeable copper in plasma: stability and reference values in healthy subjects. Anal Bioanal Chem. 2009;394:1477-1484. – reference: European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012;56:671-685. – reference: Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev. 2007,87:1011-1046. – reference: Ferenci P. Wilson's disease. Clin Gastroenterol Hepatol. 2005,3:726-733. – reference: Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408. – reference: El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: a new highly sensitive and highly specific biomarker for Wilson's disease diagnosis. Clin Chim Acta. 2011;412:2254-2260. – reference: Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089-2111. – reference: Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol. 2006;2:482-493. – reference: Cox DW. Molecular advances in Wilson disease. Prog Liver Dis. 1996;14:245-264. – reference: Twomey PJ, Viljoen A, Reynolds TM, Wierzbicki AS. Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories. J Trace Elem Med Biol. 2008;22:50-53. – reference: Walshe JM. Monitoring copper in Wilson's disease. Adv Clin Chem. 2010;50:151-163. – reference: Brunet AS, Marotte S, Guillaud O, Lachaux A. Familial screening in Wilson's disease: think at the previous generation! J Hepatol. 2012;57:1394-1395. – reference: Okada T, Shiono Y, Hayashi H, et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat. 2000;15:454-462. – reference: Denoyer Y, Woimant F, Bost M, Edan G, Drapier S. Neurological Wilson's disease lethal for the son, asymptomatic in the father. Mov Disord. 2013;28:402-403. – volume: 89 start-page: 463 year: 2010 end-page: 467 article-title: Middle‐aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism publication-title: J Genet. – volume: 50 start-page: 151 year: 2010 end-page: 163 article-title: Monitoring copper in Wilson's disease publication-title: Adv Clin Chem. – volume: 56 start-page: 671 year: 2012 end-page: 685 article-title: EASL Clinical Practice Guidelines: Wilson's disease publication-title: J Hepatol. – volume: 412 start-page: 2254 year: 2011 end-page: 2260 article-title: Relative exchangeable copper: a new highly sensitive and highly specific biomarker for Wilson's disease diagnosis publication-title: Clin Chim Acta. – volume: 14 start-page: 245 year: 1996 end-page: 264 article-title: Molecular advances in Wilson disease publication-title: Prog Liver Dis. – volume: 22 start-page: 50 year: 2008 end-page: 53 article-title: Non‐ceruloplasmin‐bound copper in routine clinical practice in different laboratories publication-title: J Trace Elem Med Biol. – volume: 87 start-page: 1011 year: 2007 end-page: 1046 article-title: Function and regulation of human copper‐transporting ATPases publication-title: Physiol Rev. – volume: 57 start-page: 1394 year: 2012 end-page: 1395 article-title: Familial screening in Wilson's disease: think at the previous generation! publication-title: J Hepatol. – volume: 2 start-page: 482 year: 2006 end-page: 493 article-title: Wilson's disease: an update publication-title: Nat Clin Pract Neurol. – volume: 12 start-page: 436 year: 2002 end-page: 446 article-title: Accounting for Human Polymorphisms Predicted to Affect Protein Function publication-title: Genome Res. – volume: 3 start-page: 726 year: 2005 end-page: 733 article-title: Wilson's disease publication-title: Clin Gastroenterol Hepatol. – volume: 47 start-page: 2089 year: 2008 end-page: 2111 article-title: Diagnosis and treatment of Wilson disease: an update publication-title: Hepatology. – volume: 125 start-page: 1868 year: 2003 end-page: 1877 article-title: Wilson disease publication-title: Gastroenterology. – volume: 394 start-page: 1477 year: 2009 end-page: 1484 article-title: Determination of ultrafiltrable and exchangeable copper in plasma: stability and reference values in healthy subjects publication-title: Anal Bioanal Chem. – volume: 15 start-page: 454 year: 2000 end-page: 462 article-title: Mutational analysis of ATP7B and genotype‐phenotype correlation in Japanese with Wilson's disease publication-title: Hum Mutat. – volume: 30 start-page: 3894 year: 2002 end-page: 3900 article-title: Human non‐synonymous SNPs: server and survey publication-title: Nucleic Acids Res. – volume: 28 start-page: 402 year: 2013 end-page: 403 article-title: Neurological Wilson's disease lethal for the son, asymptomatic in the father publication-title: Mov Disord. – volume: 369 start-page: 397 year: 2007 end-page: 408 article-title: Wilson's disease publication-title: Lancet – ident: e_1_2_8_12_1 doi: 10.1007/s00216-009-2809-6 – ident: e_1_2_8_4_1 doi: 10.1053/j.gastro.2003.05.010 – volume: 14 start-page: 245 year: 1996 ident: e_1_2_8_13_1 article-title: Molecular advances in Wilson disease publication-title: Prog Liver Dis. – ident: e_1_2_8_3_1 doi: 10.1016/S0140-6736(07)60196-2 – ident: e_1_2_8_5_1 doi: 10.1002/hep.22261 – ident: e_1_2_8_11_1 doi: 10.1016/j.cca.2011.08.019 – ident: e_1_2_8_18_1 doi: 10.1016/j.jtemb.2007.11.001 – ident: e_1_2_8_9_1 doi: 10.1007/s12041-010-0065-3 – ident: e_1_2_8_7_1 doi: 10.1016/j.jhep.2012.07.011 – ident: e_1_2_8_16_1 doi: 10.1016/S1542-3565(05)00484-2 – ident: e_1_2_8_19_1 doi: 10.1016/S0065-2423(10)50008-8 – ident: e_1_2_8_2_1 doi: 10.1152/physrev.00004.2006 – ident: e_1_2_8_14_1 doi: 10.1093/nar/gkf493 – ident: e_1_2_8_10_1 doi: 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J – ident: e_1_2_8_15_1 doi: 10.1101/gr.212802 – ident: e_1_2_8_17_1 doi: 10.1038/ncpneuro0291 – ident: e_1_2_8_6_1 doi: 10.1016/j.jhep.2011.11.007 – ident: e_1_2_8_8_1 doi: 10.1002/mds.25290
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Snippet	ABSTRACT Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative... Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family... Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper...
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SubjectTerms	Adenosine Triphosphatases - genetics Adolescent Adult ATP7B Cation Transport Proteins - genetics Child Child, Preschool Copper - blood Copper-transporting ATPases family screening Female Hepatolenticular Degeneration - blood Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - genetics Humans Male Middle Aged Movement disorders Mutation relative exchangeable copper Wilson disease Young Adult
Title	Relative exchangeable copper: A promising tool for family screening in Wilson disease
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