Article
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.
Viruses - 8 Sept 2021
Brennecke Nicholas, Cali Ignazio, Mok Tze How, Speedy Helen, Genomics England Research Consortium, Hosszu Laszlo L P, Stehmann Christiane, Cracco Laura, Puoti Gianfranco, Prior Thomas W, Cohen Mark L, Collins Steven J, Mead Simon, Appleby Brian S
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.