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| MUTANT PRION PROTEINS IN GERSTMANN-STRAUSSLER-SCHEINKER DISEASE WITH NEUROFIBRILLARY TANGLES |
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| Author(s): HSIAO K, DLOUHY SR, FARLOW MR, CASS C, DACOSTA M, CONNEALLY PM, HODES ME, GHETTI B, PRUSINER SB |
| Source: NATURE GENETICS Volume: 1 Issue: 1 Pages: 68-71 Published: APR 1992 |
| Times Cited: 171 References: 61 |
| Abstract: Two families with Gerstmann-Straussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent in other kindreds with GSS, in additon to amyloid plaques that react with prion protein (PrP) antibodies and protease-resistant PrP accumulation in the brain. A leucine substitution at PrP codon 102 has been genetically linked to GSS in some families. We examined the PrP gene in these families. A serine for phenylalanine substitution was found at codon 198 in the Indiana patients; arginine for glutamine substitution at codon 217 in the Swedish patients. These mutations in PrP are the first to be associated with the appearance of both PrP amyloid plaques and neocortical NFTs in GSS patients. |
| Document Type: Article |
| Language: English |
| Reprint Address: HSIAO, K (reprint author), UNIV CALIF SAN FRANCISCO, DEPT NEUROL, SAN FRANCISCO, CA 94143 USA |
Addresses:
1. UNIV CALIF SAN FRANCISCO, DEPT BIOCHEM & BIOPHYS, SAN FRANCISCO, CA 94143 USA
2. INDIANA UNIV, SCH MED, DEPT NEUROL, INDIANAPOLIS, IN 46202 USA
3. INDIANA UNIV, SCH MED, DEPT PATHOL, INDIANAPOLIS, IN 46202 USA
4. INDIANA UNIV, SCH MED, DEPT MED & MOLEC GENET, INDIANAPOLIS, IN 46202 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC978 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |