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Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient
Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans with an incidence of one case per million inhabitants worldwide. The sporadic form of CJD (sCJD) is spontaneous and accounts for 85% of cases. Its symptoms include rapidly progressive dementia, ataxic gait, personality change...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737861/ https://www.ncbi.nlm.nih.gov/pubmed/31534344 http://dx.doi.org/10.1177/1178633719874797 |
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author | Reddy, Vikas D Hamed, Almutasem Settipalle, Neesha Jande, Suraj Rahman, Sabih Szabella, Marie E Boghossian, Jack |
author_facet | Reddy, Vikas D Hamed, Almutasem Settipalle, Neesha Jande, Suraj Rahman, Sabih Szabella, Marie E Boghossian, Jack |
author_sort | Reddy, Vikas D |
collection | PubMed |
description | Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans with an incidence of one case per million inhabitants worldwide. The sporadic form of CJD (sCJD) is spontaneous and accounts for 85% of cases. Its symptoms include rapidly progressive dementia, ataxic gait, personality changes, myoclonus, coma, and eventually death. The challenging diagnosis is currently made by a combination of clinical criteria and supporting tests such as electroencephalography (EEG), magnetic resonance imaging (MRI) findings, and cerebrospinal fluid (CSF) studies. These modalities can be falsely positive or negative in some cases. Therefore, true confirmation usually requires a postmortem brain biopsy. We present a case of a 58-year-old woman who was diagnosed with sporadic form CJD by the novel Real-time Quaking-induced Conversion (RT-QuIC) assay. It is based on an ultrasensitive detection of the pathogenic prion protein in the CSF that directly detects a prion protein rather than a surrogate marker of neurodegeneration such as 14-3-3 or tau protein. The RT-QuIC assay has emerged as the most sensitive and specific CSF study to accurately diagnose sCJD in a living patient, without the need for invasive brain biopsy. The emergence of the nasal brushing RT-QuIC assay may further revolutionize the future of combating prion diseases. |
format | Online Article Text |
id | pubmed-6737861 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-67378612019-09-18 Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient Reddy, Vikas D Hamed, Almutasem Settipalle, Neesha Jande, Suraj Rahman, Sabih Szabella, Marie E Boghossian, Jack Infect Dis (Auckl) Case Report Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans with an incidence of one case per million inhabitants worldwide. The sporadic form of CJD (sCJD) is spontaneous and accounts for 85% of cases. Its symptoms include rapidly progressive dementia, ataxic gait, personality changes, myoclonus, coma, and eventually death. The challenging diagnosis is currently made by a combination of clinical criteria and supporting tests such as electroencephalography (EEG), magnetic resonance imaging (MRI) findings, and cerebrospinal fluid (CSF) studies. These modalities can be falsely positive or negative in some cases. Therefore, true confirmation usually requires a postmortem brain biopsy. We present a case of a 58-year-old woman who was diagnosed with sporadic form CJD by the novel Real-time Quaking-induced Conversion (RT-QuIC) assay. It is based on an ultrasensitive detection of the pathogenic prion protein in the CSF that directly detects a prion protein rather than a surrogate marker of neurodegeneration such as 14-3-3 or tau protein. The RT-QuIC assay has emerged as the most sensitive and specific CSF study to accurately diagnose sCJD in a living patient, without the need for invasive brain biopsy. The emergence of the nasal brushing RT-QuIC assay may further revolutionize the future of combating prion diseases. SAGE Publications 2019-09-09 /pmc/articles/PMC6737861/ /pubmed/31534344 http://dx.doi.org/10.1177/1178633719874797 Text en © The Author(s) 2019 http://www.creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Reddy, Vikas D Hamed, Almutasem Settipalle, Neesha Jande, Suraj Rahman, Sabih Szabella, Marie E Boghossian, Jack Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title | Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title_full | Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title_fullStr | Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title_full_unstemmed | Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title_short | Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient |
title_sort | real-time quaking-induced conversion assay for the diagnosis of sporadic creutzfeldt-jakob disease in a living patient |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737861/ https://www.ncbi.nlm.nih.gov/pubmed/31534344 http://dx.doi.org/10.1177/1178633719874797 |
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