loading...| Preferred Name | Gerstmann-Straussler-Scheinker Disease | |
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| Definitions |
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12691 |
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| createdDate |
2007-10-05 |
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| definingCitation |
Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75 |
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| definition |
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration (MeSH). |
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| editorial note | ||
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| label |
Gerstmann-Straussler-Scheinker Disease |
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| MeshUid |
D016098 |
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| modifiedDate |
April 11, 2009 |
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| note |
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration (MeSH). |
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| preferred label |
Gerstmann-Straussler-Scheinker Disease |
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| synonym |
Gerstmann-Straussler-Scheinker's Disease Gerstmann-Straussler Syndrome Gerstmann-Straussler Inherited Spongiform Encephalopathy |
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| subClassOf |