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Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient.
Infect Dis (Auckl) 2019; 12:1178633719874797ID

Abstract

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.

Authors+Show Affiliations

Department of Internal Medicine, Saint Michael's Medical Center, Newark, NJ, USA.Department of Internal Medicine, Saint Michael's Medical Center, Newark, NJ, USA.Department of Internal Medicine, Saint Michael's Medical Center, Newark, NJ, USA.Department of Internal Medicine, Saint Michael's Medical Center, Newark, NJ, USA.School of Medicine, St. George's University, Grenada, West Indies.Department of Infectious Diseases, Saint Michael's Medical Center, Newark, NJ, USA.Department of Infectious Diseases, Saint Michael's Medical Center, Newark, NJ, USA.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31534344

Citation

Reddy, Vikas D., et al. "Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient." Infectious Diseases, vol. 12, 2019, p. 1178633719874797.
Reddy VD, Hamed A, Settipalle N, et al. Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient. Infect Dis (Auckl). 2019;12:1178633719874797.
Reddy, V. D., Hamed, A., Settipalle, N., Jande, S., Rahman, S., Szabella, M. E., & Boghossian, J. (2019). Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient. Infectious Diseases, 12, p. 1178633719874797. doi:10.1177/1178633719874797.
Reddy VD, et al. Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient. Infect Dis (Auckl). 2019;12:1178633719874797. PubMed PMID: 31534344.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient. AU - Reddy,Vikas D, AU - Hamed,Almutasem, AU - Settipalle,Neesha, AU - Jande,Suraj, AU - Rahman,Sabih, AU - Szabella,Marie E, AU - Boghossian,Jack, Y1 - 2019/09/09/ PY - 2019/07/29/received PY - 2019/08/19/accepted PY - 2019/9/20/entrez KW - Prion diseases KW - RT-QuIC assay KW - diagnostic test KW - proteopathies KW - rapidly progressive dementia KW - real-time quaking-induced conformation KW - sporadic Creutzfeldt-Jakob disease SP - 1178633719874797 EP - 1178633719874797 JF - Infectious diseases JO - Infect Dis (Auckl) VL - 12 N2 - 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. SN - 1178-6337 UR - https://www.unboundmedicine.com/medline/citation/31534344/Real-time_Quaking-induced_Conversion_Assay_for_the_Diagnosis_of_Sporadic_Creutzfeldt-Jakob_Disease_in_a_Living_Patient L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31534344/ DB - PRIME DP - Unbound Medicine ER -