Document Detail

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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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