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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...

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Autores principales: Koizumi, Ryuichi, Ueda, Naohisa, Mugita, Atsushi, Kimura, Katsuo, Kishida, Hitaru, Tanaka, Fumiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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.
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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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