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Methods for Molecular Diagnosis of Human Prion Disease.

Wadsworth, JDF; Adamson, G; Joiner, S; Brock, L; Powell, C; Linehan, JM; Beck, JA; ... Collinge, J; + view all (2017) Methods for Molecular Diagnosis of Human Prion Disease. Methods in Molecular Biology: Prions , 1658 pp. 311-346. 10.1007/978-1-4939-7244-9_22. Green open access

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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.

Type: Article
Title: Methods for Molecular Diagnosis of Human Prion Disease.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-1-4939-7244-9_22
Publisher version: https://doi.org/10.1007/978-1-4939-7244-9_22
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: 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
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > UCL Institute of Prion Diseases Support
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1573945
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