Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia

Abstract The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases. In the present study, we found a 5-octapeptide repeat insertion (5-OPRI) in a sibling case of frontotemporal dementia. Consistent with...

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Bibliographic Details
Main Authors: Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe
Format: Article
Language:English
Published: Nature Publishing Group 2023-03-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00237-w

Internet

https://doi.org/10.1038/s41439-023-00237-w

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