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Scientific Correspondence
Nature 390, 241 (20 November 1997) | doi:10.1038/36757
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Scientist, Disease Modeling & Simulation
- Philip Morris International (PMI)
- Neuchâtel, Switzerland
Developer - Variation (Bioinformatician)
- European Bioinformatics Institute (EBI)
- Cambridge CB10 1SD United Kingdom
A prion-linked psychiatric disorder
Helena B. Samaia1, Jair de Jesus Mari1, Homero P. Vallada2, Ricardo P. Moura3, Andrew J. G. Simpson3 & Ricardo R. Brentania4
Abstract
The finding that new variant Creutzfeldt-Jakob disease, the recently discovered prion disease thought to be associated with ingestion of bovine offal1, has a prolonged course and can present with psychiatric symptoms2 raised the possibility that hereditary forms of prion disease may also be associated with serious psychiatric disorders. We have sequenced the open reading frame of the prion protein (PrP) gene isolated from 10 patients with a strong family history of psychiatric illness. In one patient we discovered a previously undescribed sequence alteration, N171S, which raises the possibility of a significant extension in the pathologies associated with inherited prion diseases.
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