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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

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