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Neurological Sciences

, Volume 25, Issue 1, pp 18–20 | Cite as

Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

  • C. Battisti
  • M. T. Dotti
  • G. Loudianos
  • V. Dessì
  • S. Battistini
  • T. Amato
  • A. Rufa
  • A. Federico
CASE REPORT
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Abstract.

Wilson’s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudeficiency.

Key words

Wilson’s disease Leu492Ser Arylsulfatase A pseudodeficiency 

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Copyright information

© Springer-Verlag Italia 2004

Authors and Affiliations

  • C. Battisti
    • 1
  • M. T. Dotti
    • 1
  • G. Loudianos
    • 2
  • V. Dessì
    • 3
  • S. Battistini
    • 4
  • T. Amato
    • 4
  • A. Rufa
    • 1
  • A. Federico
    • 1
  1. 1.Unit of Neurometabolic Diseases, Istitute of Neurological SciencesUniversity of SienaSienaItaly
  2. 2.Regional Hospital for MicrocythemiasCagliariItaly
  3. 3.Department of Biomedical and Biotechnological SciencesUniversity of CagliariCagliariItaly
  4. 4.Institute of Neurological SciencesUniversity of SienaSienaItaly

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