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A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in thePRNPgene

✍ Scribed by P. P. Liberski; J. Bratosiewicz; M. Barcikowska; L. Cervenakova; M. Marczewska; P. Brown; D. C. Gajdusek


Publisher
Springer-Verlag
Year
2000
Tongue
English
Weight
22 KB
Volume
100
Category
Article
ISSN
0001-6322

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A previously undiagnosed case of Gerstma
✍ Claudia Cagnoli; Alessandro Brussino; Luca Sbaiz; Eleonora Di Gregorio; Cristian 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

## Abstract Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann‐Sträussler‐Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the __PRNP__ gene. Our aim was to screen for the P102L and other six known __PRNP__ gene mutatio