| Extensive cortico-subcortical lesions in Wilson's disease: clinico-pathological study of two cases. | |
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MedLine Citation:
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PMID: 16195917 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Jacqueline Mikol; Claude Vital; Michel Wassef; Philippe Chappuis; Jo?l Poupon; Monique Lecharpentier; France Woimant |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2005-09-30 |
Journal Detail:
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Title: Acta neuropathologica Volume: 110 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 2005 Nov |
Date Detail:
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Created Date: 2005-12-05 Completed Date: 2006-08-24 Revised Date: 2007-11-09 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 451-8 Citation Subset: IM |
Affiliation:
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Department of Pathology, Denis Diderot University, Paris, France. jacqueline.mikol@lrb.ap-hop-paris.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphatases
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analysis,
genetics,
physiology Adult Astrocytes / chemistry, pathology Cation Transport Proteins / analysis, genetics, physiology Cerebral Cortex / chemistry, pathology* Copper / analysis, toxicity Female Hepatolenticular Degeneration / diagnosis, genetics, metabolism, pathology* Humans Liver / chemistry Macrophages / pathology Male Metallothionein / analysis Pedigree Putamen / chemistry, pathology |
| Chemical | |
Reg. No./Substance:
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0/Cation Transport Proteins; 7440-50-8/Copper; 9038-94-2/Metallothionein; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.3.4/Wilson disease protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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