Journal article

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Laszlo LP Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W Prior, Mark L Cohen, Steven J Collins, Simon Mead, Brian S Appleby

VIRUSES-BASEL | MDPI | Published : 2021


Genetic prion disease accounts for 10-15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight into the characteristics of the 2-octapeptide repeat genetic variant and to provide insight into the risk for Creutzfeldt-Jakob disease in asymptomatic carriers. 2-octapeptide repeat insertion prion disease cases were collected from the National Prion Disease Pathology Surveillance Center (US), the National Prion Clinic (UK), and the National Creutzfeldt-Jakob Disease Registry (Australia). Three largescale population genetic databases were queried ..

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Awarded by Alzheimer's Society, UK

Funding Acknowledgements

T.H.M. is supported by a Fellowship award from the Alzheimer's Society, UK (grant number 341 (AS-CTF-16b-007)) and by a CJD Support Network UK Research Support Grant. B.S.A. has received research funding from CDC, NIH, Ionis, the CJD Foundation, and Alector. SM is a National Institute for Health Research Senior Investigator. The UK studies were funded by the Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and the Medical Research Council (UK).