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Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation
The diagnosis of presymptomatic Creutzfeldt–Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrP(res)) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imag...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8529210/ https://www.ncbi.nlm.nih.gov/pubmed/34690919 http://dx.doi.org/10.3389/fneur.2021.751750 |
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author | Koizumi, Ryuichi Ueda, Naohisa Mugita, Atsushi Kimura, Katsuo Kishida, Hitaru Tanaka, Fumiaki |
author_facet | Koizumi, Ryuichi Ueda, Naohisa Mugita, Atsushi Kimura, Katsuo Kishida, Hitaru Tanaka, Fumiaki |
author_sort | Koizumi, Ryuichi |
collection | PubMed |
description | The diagnosis of presymptomatic Creutzfeldt–Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrP(res)) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis. Presymptomatic CJD is currently impossible to diagnose because of the lack of established early diagnostic markers. However, since MRI is increasingly used in daily clinical practice, the chance detection of such DWI abnormalities would have important implications in terms of providing a clue to examine a highly specific early diagnostic marker to be developed in the future for CJD. This will allow presymptomatic intervention by disease-modifying therapy in the near future. |
format | Online Article Text |
id | pubmed-8529210 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85292102021-10-22 Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation Koizumi, Ryuichi Ueda, Naohisa Mugita, Atsushi Kimura, Katsuo Kishida, Hitaru Tanaka, Fumiaki Front Neurol Neurology The diagnosis of presymptomatic Creutzfeldt–Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrP(res)) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis. Presymptomatic CJD is currently impossible to diagnose because of the lack of established early diagnostic markers. However, since MRI is increasingly used in daily clinical practice, the chance detection of such DWI abnormalities would have important implications in terms of providing a clue to examine a highly specific early diagnostic marker to be developed in the future for CJD. This will allow presymptomatic intervention by disease-modifying therapy in the near future. Frontiers Media S.A. 2021-10-07 /pmc/articles/PMC8529210/ /pubmed/34690919 http://dx.doi.org/10.3389/fneur.2021.751750 Text en Copyright © 2021 Koizumi, Ueda, Mugita, Kimura, Kishida and Tanaka. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Koizumi, Ryuichi Ueda, Naohisa Mugita, Atsushi Kimura, Katsuo Kishida, Hitaru Tanaka, Fumiaki Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title | Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title_full | Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title_fullStr | Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title_full_unstemmed | Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title_short | Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation |
title_sort | case report: extremely early detection of preclinical magnetic resonance imaging abnormality in creutzfeldt–jakob disease with the v180i mutation |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8529210/ https://www.ncbi.nlm.nih.gov/pubmed/34690919 http://dx.doi.org/10.3389/fneur.2021.751750 |
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