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Extensive cortico-subcortical lesions in Wilson’s disease: clinico-pathological study of two cases

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Abstract

Wilson’s disease (WD) with extensive cortico-subcortical lesions represents a rare neuropathological subgroup, the pathogenesis of which is not clearly determined. We report two new cases with identical lesions. In the families of each of the patient, there were mutations in the ATPase7B gene, especially in the family of proband 1, and in the first cousin of proband 2. These cases included massive destruction of the white matter in superior gyri, mostly frontal, extending to the deep cortex with neuronal loss and capillary proliferation. Astrocytes were of Alzheimer type 1 and 2; and type 1 were labeled by anti-metallothionein. Opalski cells were abundant and their macrophagic lineage was confirmed by immunostaining. Among the possible mechanisms proposed, the role of vascular factors and penicillamine treatment could be excluded. Cerebral copper content in white matter and putamen of case 1 was at the same level as in common WD but accumulation of unbound copper in the white matter was a distinctive feature, which suggested a pathological neurotoxic effect.

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Acknowledgements

We wish to thank Prof. F. Gray and Dr. A. Lombes for special techniques, P. Castagnet and C. Poiron for excellent technical assistance, M.-L. Peyronnet for typing the manuscript and D. Robinson and M. O’Gara for linguistic help.

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Authors and Affiliations

  1. Department of Pathology, Denis Diderot University, Paris, France

    Jacqueline Mikol, Michel Wassef & Monique Lecharpentier

  2. Department of Pathology, Bordeaux II University, Bordeaux, France

    Claude Vital

  3. Department of Biochemistry, Lariboisière Hospital, Paris, France

    Philippe Chappuis

  4. Department of Toxicology, Lariboisière Hospital, Paris, France

    Joël Poupon

  5. Department of Neurology, Lariboisière Hospital, Paris, France

    France Woimant

  6. Department of Pathology, Lariboisière Hospital, 2 rue Ambroise Paré, 75475, Paris cedex 10, France

    Jacqueline Mikol

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  1. Jacqueline Mikol
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Correspondence to Jacqueline Mikol.

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Mikol, J., Vital, C., Wassef, M. et al. Extensive cortico-subcortical lesions in Wilson’s disease: clinico-pathological study of two cases. Acta Neuropathol 110, 451–458 (2005). https://doi.org/10.1007/s00401-005-1061-1

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  • DOI: https://doi.org/10.1007/s00401-005-1061-1

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