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

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 previous...

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Detalles Bibliográficos
Autores principales: Hamada, Shinsuke, Takahashi-Iwata, Ikuko, Satoh, Katsuya, Kitamoto, Tetsuyuki, Mizusawa, Hidehiro, Moriwaka, Fumio, Yabe, Ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10050173/
https://www.ncbi.nlm.nih.gov/pubmed/36977684
http://dx.doi.org/10.1038/s41439-023-00237-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10050173/
https://www.ncbi.nlm.nih.gov/pubmed/36977684
http://dx.doi.org/10.1038/s41439-023-00237-w

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