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...

Descripción completa

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
_version_ 1785014609121378304
author Hamada, Shinsuke
Takahashi-Iwata, Ikuko
Satoh, Katsuya
Kitamoto, Tetsuyuki
Mizusawa, Hidehiro
Moriwaka, Fumio
Yabe, Ichiro
author_facet Hamada, Shinsuke
Takahashi-Iwata, Ikuko
Satoh, Katsuya
Kitamoto, Tetsuyuki
Mizusawa, Hidehiro
Moriwaka, Fumio
Yabe, Ichiro
author_sort Hamada, Shinsuke
collection PubMed
description 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 literature, 5-OPRI rarely met the diagnostic criteria for Creutzfeldt‒Jakob disease (CJD). We propose 5-OPRI as a suspected causative mutation for early-onset dementia, especially the frontotemporal type.
format Online
Article
Text
id pubmed-10050173
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-100501732023-03-30 Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia Hamada, Shinsuke Takahashi-Iwata, Ikuko Satoh, Katsuya Kitamoto, Tetsuyuki Mizusawa, Hidehiro Moriwaka, Fumio Yabe, Ichiro Hum Genome Var Data Report 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 literature, 5-OPRI rarely met the diagnostic criteria for Creutzfeldt‒Jakob disease (CJD). We propose 5-OPRI as a suspected causative mutation for early-onset dementia, especially the frontotemporal type. Nature Publishing Group UK 2023-03-29 /pmc/articles/PMC10050173/ /pubmed/36977684 http://dx.doi.org/10.1038/s41439-023-00237-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Hamada, Shinsuke
Takahashi-Iwata, Ikuko
Satoh, Katsuya
Kitamoto, Tetsuyuki
Mizusawa, Hidehiro
Moriwaka, Fumio
Yabe, Ichiro
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title_full Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title_fullStr Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title_full_unstemmed Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title_short Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
title_sort genetic creutzfeldt‒jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
topic Data Report
url 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
work_keys_str_mv AT hamadashinsuke geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT takahashiiwataikuko geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT satohkatsuya geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT kitamototetsuyuki geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT mizusawahidehiro geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT moriwakafumio geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia
AT yabeichiro geneticcreutzfeldtjakobdiseasewith5octapeptiderepeatspresentedasfrontotemporaldementia

Ejemplares similares