Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage

We herein report a case of genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein (PrP) gene diagnosed at a preserved cognitive function stage. Although neuropsychological tests revealed normal cognitive functions, increased signal intensity in the cerebral cortices with...

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Detalles Bibliográficos
Autores principales: Suzuki, Yutaro, Sugiyama, Atsuhiko, Muto, Mayumi, Satoh, Katsuya, Kitamoto, Tetsuyuki, Kuwabara, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018904/
https://www.ncbi.nlm.nih.gov/pubmed/35475058
http://dx.doi.org/10.7759/cureus.23374
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author Suzuki, Yutaro
Sugiyama, Atsuhiko
Muto, Mayumi
Satoh, Katsuya
Kitamoto, Tetsuyuki
Kuwabara, Satoshi
author_facet Suzuki, Yutaro
Sugiyama, Atsuhiko
Muto, Mayumi
Satoh, Katsuya
Kitamoto, Tetsuyuki
Kuwabara, Satoshi
author_sort Suzuki, Yutaro
collection PubMed
description We herein report a case of genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein (PrP) gene diagnosed at a preserved cognitive function stage. Although neuropsychological tests revealed normal cognitive functions, increased signal intensity in the cerebral cortices with swelling on diffusion-weighted imaging (DWI) in magnetic resonance imaging (MRI) prompted genetic testing for the PrP gene. This case suggests that cortical hyperintensity on DWI with swelling may be a useful finding of brain MRI for the diagnosis of V180I genetic CJD even at an extremely early stage, such as at the preserved cognitive function stage.
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spelling pubmed-90189042022-04-25 Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage Suzuki, Yutaro Sugiyama, Atsuhiko Muto, Mayumi Satoh, Katsuya Kitamoto, Tetsuyuki Kuwabara, Satoshi Cureus Internal Medicine We herein report a case of genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein (PrP) gene diagnosed at a preserved cognitive function stage. Although neuropsychological tests revealed normal cognitive functions, increased signal intensity in the cerebral cortices with swelling on diffusion-weighted imaging (DWI) in magnetic resonance imaging (MRI) prompted genetic testing for the PrP gene. This case suggests that cortical hyperintensity on DWI with swelling may be a useful finding of brain MRI for the diagnosis of V180I genetic CJD even at an extremely early stage, such as at the preserved cognitive function stage. Cureus 2022-03-21 /pmc/articles/PMC9018904/ /pubmed/35475058 http://dx.doi.org/10.7759/cureus.23374 Text en Copyright © 2022, Suzuki et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Suzuki, Yutaro
Sugiyama, Atsuhiko
Muto, Mayumi
Satoh, Katsuya
Kitamoto, Tetsuyuki
Kuwabara, Satoshi
Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title_full Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title_fullStr Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title_full_unstemmed Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title_short Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage
title_sort early diagnosis of v180i genetic creutzfeldt-jakob disease at the preserved cognitive function stage
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018904/
https://www.ncbi.nlm.nih.gov/pubmed/35475058
http://dx.doi.org/10.7759/cureus.23374
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