References
Ala A., Walker A. P., Ashkan K., Dooley J. S. and Schilsky M. L. 2007 Wilson’s disease. Lancet 69, 397–408.
Barbosa E. R., Machado A. A., Cancádo E. L., Deguti M. M. and Scaff M. 2009 Wilson’s disease: a case report and a historical review. Arq. Neuropsiquiatr 67, 539–543.
Benito-León J. 2009 How common is essential tremor? Neuroepidemiology 32, 215–216.
Cartwright G. E., Markowitz H., Shields G. S. and Wintrobe M. M. 1960 Studies on copper metabolism. XXIX. A. Critical analysis of serum copper and ceruloplasmin concentrations in normal subjects, patients with Wilson’s disease and relatives of patients with Wilson’s disease. Am. J. Med. 28, 555–563.
Cater M. A., La Fontaine S. and Mercer J. F. 2007 Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B). Biochem. J. 401, 143–153.
Cox D.W., Fraser F. C. and Sass-Kortsak A. 1972 A genetic study of Wilson’s disease: evidence for heterogeneity. Am. J. Hum. Genet. 24, 646–666.
Das S. K. and Ray K. 2006 Wilson’s disease: an update. Nat. Clin. Pract. Neurol. 2, 482–493.
de Bie P., Muller P., Wijmenga C. and Klomp L.W. 2007 Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J. Med. Genet. 44, 673–688.
Forbes J. R. and Cox D. W. 2000 Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum. Mol. Genet. 9, 1927–1935.
Gromadzka G., Schmidt H. H., Genschel J., Bochow B., Rodo M., Tarnacka B. et al. 2005 Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson’s disease. Clin. Genet. 68, 524–532.
Gromadzka G., Schmidt H. H., Genschel J., Bochow B., Rodo M., Tarnacka B. et al. 2006 p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson’s disease. Mov. Disorders 21, 245–248.
Haghighat M., Dehghani S. M., Imanieh M. H. and Gholami S. 2008 Determination of liver enzymes, serum ceruloplasmin and urine copper in parents of children with Wilson’s disease. Saudi Med. J. 29, 1056–1057.
Heuyer G., Baudoin A., Azima H., Faure H., Jerome H. and Schmitt H. 1953 Considerations onWilson’s disease; genealogic, clinical, and metabolic investigations on 60 members of one family. Rev. Neurol. (Paris) 89, 165–181.
Huster D., Hoppert M., Lutsenko S., Zinke J., Lehmann C., Mössner J. et al. 2003 Defective cellular localization of mutant ATP7B in Wilson’s disease patients and hepatoma cell lines. Gastroenterology 124, 335–345.
Johnson S. 2001 Is Parkinson’s disease the heterozygote form of Wilson’s disease: PD = 1/2 WD? Med. Hypotheses 56, 171–173.
Neale F. C. and Fischer-Williams M. 1958 Copper metabolism in normal adults and in clinically normal relatives of patients with Wilson’s disease. J. Clin. Pathol. 11, 441–447.
Nevsímalová S., Marecek Z. and Roth B. 1986 An EEG study of Wilson’s disease. Findings in patients and heterozygous relatives. Electroencephalogr. Clin. Neurophysiol. 64, 191–198.
Nicholl D. J., Ferenci P., Polli C., Burdon M. B. and Pall H. S. 2001 Wilson’s disease presenting in a family with an apparent dominant history of tremor. J. Neurol. Neurosurg. Psychiatry 70, 514–516.
Petrukhin K., Lutsenko S., Chernov I., Ross B.M., Kaplan J. H. and Gilliam T. C. 1994 Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum. Mol. Genet. 3, 1647–1656.
Quinn N. P. and Marsden C. D. 1986 Coincidence of Wilson’s disease with other movement disorders in the same family. J. Neurol. Neurosurg. Psychiatry 49, 221–222.
Ravin H. A. 1961 An improved colorimetric assay of ceruloplasmin. J. Lab. Clin. Med. 61, 161–168.
Sternlieb I., Morell A. G., Bauer C. D., Combes B., De Bobes-Sternberg S. and Schein-Berg I. H. 1961 Detection of the heterozygous carrier of the Wilson’s disease gene. J. Clin. Invest. 40, 707–715.
Tarnacka B., Szeszkowski W., Buettner J., Golebiowski M., Gromadzka G. and Czlonkowska A. 2009 Heterozygous carriers for Wilsons disease magnetic spectroscopy changes in the brain. Metab. Brain Dis. 24, 463–468.
Tórsdóttir G., Gudmundsson G., Kristinsson J., Snaedal J. and Jóhannesson T. 2009 Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study. Neuropsychiatr. Dis. Treat. 5, 55–59.
Vrabelova S., Letocha O., Borsky M. and Kozak L. 2005 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients withWilson disease. Mol. Genet. Metab. 86, 277–285.
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
Gromadzka, G., Chabik, G., Mendel, T. et al. Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism. J Genet 89, 463 (2010). https://doi.org/10.1007/s12041-010-0065-3
Received:
Revised:
Accepted:
Published:
DOI: https://doi.org/10.1007/s12041-010-0065-3