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Molecular Genetics of Wilson Disease

Study of 12 Families
  • M. Bost
  • M. Accominotti
  • A. Lachaux
  • F. Régnier
  • G. Chazot
  • A. Vandenberghe

Abstract

Wilson disease (WD) or “hepatolenticular degeneration” is an autosomal recessive disorder of copper (Cu) transport. Early diagnosis and treatment with copper-chelating agents (penicillamine) or by blocking intestinal Cu absorption (zinc salts) are essential to prevent Cu accumulation and irreversible damage to tissues such as liver and brain. Diagnosis is usually based on low ceruloplasmin and plasma copper, increased copper excretion in urine, and copper deposits in the cornea (Kayser-Fleisher ring) and liver. However, wide variations may occur in the biochemical tests and sometimes diagnosis is not entirely reliable.

Keywords

Microsatellite Marker Hepatolenticular Degeneration Wilson Disease Zinc Salt SSCP Analysis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    M. Frydman, B. Bonne-Tamir, L.A. Farrer, P.M. Conneally, A. Magazanik, A. Ashbel, Z. Goldwitch, Proc. Natl. Acad. Sci. USA 82, 1819–1921 (1985).CrossRefGoogle Scholar
  2. 2.
    K. Petrukhin, S. Lutsenko, I. Chernov, B.M. Ross, J.H. Kaplan, T.C. Gilliam, Hum. Mol. Genet. 3, 1647–1656(1994).CrossRefGoogle Scholar
  3. 3.
    G.R. Thomas, J.R. Forbes, E.A. Roberts, J.M. Walshe, D.W. Cox, Nature Genet. 9, 210–217 (1995).CrossRefGoogle Scholar
  4. 4.
    A. Figus, A. Angius, G. Loudianos et al, Am. J. Hum. Genet. 57, 1318–1324 (1995).Google Scholar
  5. 5.
    G.R. Thomas, P.C. Bull, E.A. Roberts, J.M. Walshe, D.W. Cox, Am. J. Hum. Genet. 54, 71–78 (1994).Google Scholar
  6. 6.
    E.A. Stewart, A. White, J. Tomfohrde et al, Am. J. Hum. Genet. 53, 864–873 (1993).Google Scholar

Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • M. Bost
    • 1
    • 2
  • M. Accominotti
    • 3
  • A. Lachaux
    • 4
  • F. Régnier
    • 4
  • G. Chazot
    • 2
    • 5
  • A. Vandenberghe
    • 1
    • 6
  1. 1.Laboratoire de NeurogénétiqueHôpital de l’AntiquailleLyonFrance
  2. 2.Trace ElementInstitute for UNESCOLyonFrance
  3. 3.Laboratoire de BiochimieAnalyse des TracesUSA
  4. 4.Service de Gastroentérologie InfantileHôpital Edouard-HerriotLyonFrance
  5. 5.Hôpital NeurologiqueLyonFrance
  6. 6.Institut des Sciences Pharmaceutiques et BiologiquesLyonFrance

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