Abstract | OBJECTIVE: METHODS: The clinicopathologic features of four individuals from the United States who died of fCJD(V210I) were compared. Transgenic (Tg) mice expressing a chimeric human-mouse PrP transgene were inoculated with brain extracts from three fCJD(V210I) cases, sporadic CJD (sCJD), fCJD(E200K), and fatal familial insomnia (FFI), to compare prion strain characteristics. RESULTS: The clinicopathologic profile of fCJD(V210I) was variable among cases but shared similarities with sCJD. The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI. CONCLUSIONS: Each of these prion diseases is characterized by a rapidly progressive dementia with myoclonus, periodic complexes on EEG, and spongiform change without PrP plaque deposition in the brain. The occurrence of a different PrP(Sc) phenotype with each PRNP mutation argues that each respective amino acid sequence substitution produces a different prion strain.
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Authors | J A Mastrianni, S Capellari, G C Telling, D Han, P Bosque, S B Prusiner, S J DeArmond |
Journal | Neurology
(Neurology)
Vol. 57
Issue 12
Pg. 2198-205
(Dec 26 2001)
ISSN: 0028-3878 [Print] United States |
PMID | 11756597
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Animals
- Blotting, Western
- Brain
(pathology)
- Female
- Humans
- Male
- Mice
- Mice, Transgenic
- Middle Aged
- Phenotype
- Point Mutation
(genetics)
- Prion Diseases
(genetics, pathology, transmission)
- Prions
(analysis, genetics)
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