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| FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB DISEASE - DISEASE PHENOTYPE DETERMINED BY A DNA POLYMORPHISM |
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| Author(s): GOLDFARB LG, PETERSEN RB, TABATON M, BROWN P, LEBLANC AC, MONTAGNA P, CORTELLI P, JULIEN J, VITAL C, PENDELBURY WW, HALTIA M, WILLS PR, HAUW JJ, MCKEEVER PE, MONARI L, SCHRANK B, SWERGOLD GD, AUTILIOGAMBETTI L, GAJDUSEK DC, LUGARESI E, GAMBETTI P |
| Source: SCIENCE Volume: 258 Issue: 5083 Pages: 806-808 Published: OCT 30 1992 |
| Times Cited: 435 References: 40 |
| Abstract: Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn178 mutation and the methionine-valine polymorphism at codon 129. The Met129, Asn178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val129, Asn178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism. |
| Document Type: Article |
| Language: English |
Addresses:
1. CASE WESTERN RESERVE UNIV, INST PATHOL, DIV NEUROPATHOL, CLEVELAND, OH 44106 USA
2. NINCDS, CENT NERVOUS SYST STUDIES LAB, BETHESDA, MD 20892 USA
3. NCI, BIOCHEM LAB, BETHESDA, MD 20892 USA
4. UNIV BOLOGNA, INST NEUROL, I-40126 BOLOGNA, ITALY
5. UNIV BORDEAUX, SCH MED, DEPT NEUROL, BORDEAUX, FRANCE
6. UNIV BORDEAUX, SCH MED, DEPT PATHOL, BORDEAUX, FRANCE
7. UNIV VERMONT, DEPT PATHOL, BURLINGTON, VT 05405 USA
8. UNIV HELSINKI, DEPT PATHOL, SF-00100 HELSINKI 10, FINLAND
9. UNIV AUCKLAND, DEPT PHYS, AUCKLAND, NEW ZEALAND
10. LAB NEUROPATHOL R ESCOUROLLE, PARIS, FRANCE
11. UNIV MICHIGAN, SCH MED, DEPT PATHOL, ANN ARBOR, MI 48104 USA
12. WASHINGTON UNIV, SCH MED, DEPT GENET, ST LOUIS, MO 63110 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: JV692 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |