Description:
GERSTMANN-STRAUSSLER DISEASE; GSD
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Five affected generations in pedigree. Donor displayed progressive dementia. Autopsy showed marked diffuse cerebral cortical plaques and caudate atrophy. Donor died at age 61. Originally thought to be Alzheimer's disease, diagnosis was confirmed as Gerstmann-Straussler syndrome with a known prion gene mutation at codon 117. The culture was initiated on 10/19/84 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. |
| Hsiao KK, Cass C, Schellenberg GD, Bird T, Devine-Gage E, Wisniewski H, Prusiner SB, A prion protein variant in a family with the telencephalic form of Gerstmann-Straussler-Scheinker syndrome. Neurology41(5):681-4 1994 |
| PubMed ID: 1674116 |
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| Heston LL, Lowther DL, Leventhal CM, Alzheimer's disease. A family study. Arch Neurol15:225-33 1966 |
| PubMed ID: 5912002 |
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