Springer Protocols: Abstract: 14. Molecular Diagnosis of Human Prion Disease

14. Molecular Diagnosis of Human Prion Disease

By: Jonathan D. F. Wadsworth³, Caroline Powell³, Jonathan A. Beck³, Susan Joiner³, Jacqueline M. Linehan³, Sebastian Brandner³, Simon Mead³, John Collinge³

Abstract

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Human prion diseases are associated with a range of clinical presentations, and they are classified by both clinicopathological syndrome and etiology, with subclassification according to molecular criteria. Here, we describe procedures that are used within the MRC Prion Unit to determine a molecular diagnosis of human prion disease. Sequencing of the PRNP open reading frame to establish the presence of pathogenic mutations is described, together with detailed methods for immunoblot or immunohistochemical determination of the presence of abnormal prion protein in brain or peripheral tissues.

Affiliation(s): (3) MRC Prion Unit, University College London Institute of Neurology, London, UK

Book Title: Prion Protein Protocols

Series: Methods in Molecular Biology | Volume: 459 | Pub. Date: Jun-04-2008 | Page Range: 197-227 | DOI: 10.1007/978-1-59745-234-2_14

Subject: Protein Science

Key Words: Bovine spongiform encephalopathy - Creutzfeldt—Jakob disease - fatal familial insomnia - Gerstmann—Sträussler—Scheinker disease - kuru - prion - prion disease - prion protein - transmissible spongiform encephalopathy - variant Creutzfeldt— Jakob disease

References

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