| The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles. | |
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MedLine Citation:
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PMID: 7848137 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To study neuropathologically Williams syndrome in a 35-year-old patient. METHODS: Sections from multiple regions of the brain were examined with luxol fast blue and hematoxylineosin staining, and selected sections were stained with the silver impregnation technique (Bielschowsky technique) and Congo red. In addition, immunohistochemistry with monoclonal antibodies against glial fibrillary acidic protein, beta/A4 amyloid, paired helical filaments, and phosphorylated tau protein was performed on cortical, hippocampal, amygdaloid, and basal ganglian sections. RESULTS: No specific macroscopic or microscopic abnormalities were recognized that are specific for Williams syndrome. The histopathologic examination did, however, demonstrate the presence of Alzheimer-type changes, including beta/A4 amyloid-containing senile plaques and scattered neurofibrillary tangles in neocortex and medial temporal lobe structures (entorhinal cortex, CA1 area of the hippocampus, and amygdala). Plaques were most numerous in the amygdala (7/mm2) and in the entorhinal cortex (4/mm2). Neurofibrillary tangles were less numerous (< 1/mm2), except in the hippocampus, where approximately 2/mm2 were found. CONCLUSIONS: To our knowledge, ours represents the first neuropathologic description of a patient with Williams syndrome. Although Williams syndrome is usually sporadic, familial cases have been reported along with candidate chromosomal loci. If our findings are confirmed in additional patients with Williams syndrome, they may provide clues to other factors that are important in the pathogenesis of senile plaques (with beta/A4 amyloid deposition) and neurofibrillary tangles. |
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Authors:
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J A Golden; G P Nielsen; B R Pober; B T Hyman |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Archives of neurology Volume: 52 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 1995 Feb |
Date Detail:
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Created Date: 1995-03-08 Completed Date: 1995-03-08 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 209-12 Citation Subset: AIM; IM |
Affiliation:
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Pathology Service (Neuropathology), Massachusetts General Hospital, Boston. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amyloid beta-Protein / metabolism* Brain / metabolism*, pathology* Cardiovascular Diseases Dementia / metabolism, pathology Face / abnormalities Failure to Thrive Humans Hypercalcemia Kidney Diseases Male Mental Retardation Musculoskeletal Diseases Neurofibrillary Tangles / pathology* Syndrome Tooth Diseases |
| Grant Support | |
ID/Acronym/Agency:
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AG08487/AG/NIA NIH HHS; P50-AG05134/AG/NIA NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Amyloid beta-Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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