Chapter title |
Methods for Molecular Diagnosis of Human Prion Disease
|
---|---|
Chapter number | 22 |
Book title |
Prions
|
Published in |
Methods in molecular biology, January 2017
|
DOI | 10.1007/978-1-4939-7244-9_22 |
Pubmed ID | |
Book ISBNs |
978-1-4939-7242-5, 978-1-4939-7244-9
|
Authors |
Jonathan D. F. Wadsworth, Gary Adamson, Susan Joiner, Lara Brock, Caroline Powell, Jacqueline M. Linehan, Jonathan A. Beck, Sebastian Brandner, Simon Mead, John Collinge, Wadsworth, JDF, Adamson, G, Joiner, S, Brock, L, Powell, C, Linehan, JM, Beck, JA, Brandner, S, Mead, S, Collinge, J, Wadsworth, Jonathan D. F., Adamson, Gary, Joiner, Susan, Brock, Lara, Powell, Caroline, Linehan, Jacqueline M., Beck, Jonathan A., Brandner, Sebastian, Mead, Simon, Collinge, John |
Abstract |
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 updated procedures that are currently used within the MRC Prion Unit at UCL 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 the brain or peripheral tissues. |
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