Parkinsonism & Related Disorders
Volume 14, Issue 3 , Pages 246-249 , April 2008

Neurological manifestations and ATP7B mutations in Wilson's disease

  • Alexandre Aluizio Costa Machado

      Affiliations

    • Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil
    • Corresponding Author InformationCorresponding author. R. Francisco Leitão, 479, ap 92, CEP 05414-020 São Paulo, SP, Brazil. Tel.: +551130635806; fax: +551130628666.
    • ,
  • Marta Mitiko Deguti

      Affiliations

    • Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
    • ,
  • Janine Genschel

      Affiliations

    • Medizinische Klinik m. S. Gastroenterologie, Hepatologie und Endokrinologie—Charité Campus Mitte, Berlin, Germany
    • ,
  • Eduardo Luiz Rachid Cançado

      Affiliations

    • Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
    • ,
  • Bettina Bochow

      Affiliations

    • Medizinische Klinik m. S. Gastroenterologie, Hepatologie und Endokrinologie—Charité Campus Mitte, Berlin, Germany
    • ,
  • Hartmut Schmidt

      Affiliations

    • Medizinische Klinik m. S. Gastroenterologie, Hepatologie und Endokrinologie—Charité Campus Mitte, Berlin, Germany
    • Transplantations Hepatologie, Universitätsklinikum, Münster, Germany
    • ,
  • Egberto Reis Barbosa

      Affiliations

    • Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil

Received 27 April 2007 ,Revised 23 July 2007 ,Accepted 3 August 2007.

References 

  1. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993;5:344–350
  2. Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype–phenotype correlation, and functional analyses. Am J Hum Genet. 1997;61:317–328
  3. Stapelbroek JM, Bollen CW, van Amstel JK, van Erpecum KJ, van Hattum J, van den Berg LH, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson's disease: results of a meta-analysis. J Hepatol. 2004;41:758–763
  4. Deguti MM, Genschel J, Cançado EL, Barbosa ER, Bochow B, Mucenic M, et al. Wilson's disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat. 2004;23:398–406
  5. Scheinberg IH, Sternlieb I. Diagnosis in Wilson's disease. In:  Scheinberg IH,  Sternlieb I editor. Wilson's disease. Philadelphia: Saunders; 1984;p. 114–125
  6. Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord. 2006;21:2192–2196
  7. Gustincich S, Manfioletti G, Del Sal G, Schneider C, Carninci P. A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques. 1991;11:298–300
  8. Waldenström E, Lagerkvist A, Dahlman T, Westermark K, Landegren U. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics. 1996;37:303–309
  9. Caca K, Ferenci P, Kuhn HJ, Polli C, Willgerodt H, Kunath B, et al. High prevalence of the H1069Q mutation in East German patients with Wilson's disease: rapid detection of mutations by limited sequencing and phenotype–genotype analysis. J Hepatol. 2001;35:575–581
  10. Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype–phenotype correlations in 227 patients with Wilson's disease. Mol Genet Metabol. 2005;86:277–285
  11. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson's disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210–217
  12. Grubenbecher S, Stuve O, Hefter H, Korth C. Prion protein gene codon 129 modulates clinical course of neurological Wilson's disease. Neuroreport. 2006;17:549–552

PII: S1353-8020(07)00171-X

doi: 10.1016/j.parkreldis.2007.08.002

Parkinsonism & Related Disorders
Volume 14, Issue 3 , Pages 246-249 , April 2008

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