Monozygotic female twins discordant for phenotype of Wilson's disease

Movement Disorders

Volumn 24, Issue 7, 2009, Pages 1066-1069

  Członkowska, Anna ^a,b   Gromadzka, Grazyna ^a,b   Chabik, Grzegorz ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

ATP7B; Genotype; Monozygotic twins; Phenotype; Wilson's disease

Indexed keywords

ADENINE; AMELOGENIN; CYTOSINE; DNA; WILSON DISEASE PROTEIN;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; COPPER METABOLISM; DEPRESSION; DNA DETERMINATION; DYSARTHRIA; FEMALE; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; LIVER FAILURE; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TREMOR; TWIN DISCORDANCE; WILSON DISEASE;

ADULT; BASAL GANGLIA; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; PHENOTYPE; THALAMUS; TWINS, MONOZYGOTIC;

EID: 67651166903     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22474     Document Type: Article

References (15)

1. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-142.
2. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408.
3. Ferenci P, Członkowska A, Merle U, et al. Late-onset Wilson's disease. Gastroenterology 2007;132:1294-1298.
4. Gromadzka G, Schmidt HH, Genschel J, et al. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2006;21:245-248.
5. Gromadzka G, Schmidt HH, Genschel J, et al. 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 2005;68: 524-532.
6. Członkowska A, Rodo M, Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord 2008;23:896-898.
7. Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001;34:165-171.
8. Sequeiros J, Sack GH Jr. Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: a "new" syndrome? Am J Med Genet 1985;21:669-680.
9. Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995;56:647-653.
10. Munar-Qués M, Pedrosa JL, Coelho T, et al. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 1999;36:629-632.
11. Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 2005;86:277-285.
12. El-Youssef M. Wilson disease. Mayo Clin Proc 2003;78:1126-1136.
13. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-142.
14. Machin G A. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 1996;61:216-228.
15. Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 2005;102:10604-10609.