Review: Fluid biomarkers in the human prion diseases

@article{Thompson2019ReviewFB,
  title={Review: Fluid biomarkers in the human prion diseases},
  author={Andrew Geoffrey Bourne Thompson and Simon Mead},
  journal={Molecular and Cellular Neuroscience},
  year={2019},
  volume={97},
  pages={81-92}
}
Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
TLDR
Research is being carried out on new, more efficient cerebrospinal fluid biomarkers (total tau, ratio total tau/phosphorylated tau and neurofilament light chain) and potential blood biomarker(s) to try to universalize access to early diagnosis in the case of prion diseases.
CSF biomarkers for prion diseases
  • K. Satoh
  • Biology, Medicine
    Neurochemistry International
  • 2022
Detection of Pathognomonic Biomarker PrPSc and the Contribution of Cell Free-Amplification Techniques to the Diagnosis of Prion Diseases
TLDR
The solution comes from the recent development of in vitro prion propagation techniques, such as Protein Misfolding Cyclic Amplification and Real Time-Quaking Induced Conversion (RT-QuIC), which have been already applied to detect minute amounts of PrPSc in different matrixes and make early diagnosis of prion diseases feasible in a near future.
Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease
TLDR
Plasma tau and NfL and CSF t-tau are significantly associated with survival in prion disease in a subtype-specific manner and can be used to improve clinical trial stratification and clinical care.
Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease
TLDR
This study has identified a peripheral DNA methylation signature of sCJD with a variety of potential biomarker applications, and identified sites whose methylation levels associated with prolonged survival in sC JD patients.
Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt–Jakob disease
TLDR
This study has identified a peripheral DNA methylation signature of sCJD with a variety of potential biomarker applications and identified sites whose methylation levels associated with prolonged survival in sC JD patients.
Ultrasensitive techniques and protein misfolding amplification assays for biomarker-guided reconceptualization of Alzheimer’s and other neurodegenerative diseases
TLDR
A systematic PubMed-based state-of-the-art review and perspective report on blood-based ultrasensitive detection techniques and protein misfolding amplification assays for biomarkers discovery and development in NDDs.
Extracellular vesicles – propagators of neuropathology and sources of potential biomarkers and therapeutics for neurodegenerative diseases
TLDR
This Review highlights novel advancements in the involvement of small extracellular vesicles (EVs) as propagators of neuropathology, biomarkers and potential therapeutics in neurodegenerative diseases.
Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases
TLDR
It is demonstrated for the first time that BV rPrP is susceptible to conversion by human CSF samples containing certain prion strains not previously responsive in conventional rPrPs, thus justifying further optimisation for wider diagnostic and prognostic use.
TREM2 expression in the brain and biological fluids in prion diseases
TLDR
Comparative study of TREM2 in brain and biological fluids of prion diseases reveals TREM 2 to be altered in human prions diseases with a potential value in target engagement, patient stratification, and disease monitoring.
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References

SHOWING 1-10 OF 127 REFERENCES
Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay
TLDR
RT-QUIC assay is more sensitive than testing for biomarkers in gPrD patients and would thus be useful as a diagnostic tool when the patient or the patient's family does not agree to genetic testing, or to confirm the diagnosis in the presence of a positive result for genetic testing.
Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels
TLDR
Support is support for the use of both RT-QuIC and t-tau assays as first line laboratory investigations for the clinical diagnosis of CJD and a secondary tauopathy in CJD subtypes VV2 and MV2K, correlating with increased p-t Tau levels in the CSF is demonstrated.
Association of cerebrospinal fluid prion protein levels and the distinction between Alzheimer disease and Creutzfeldt-Jakob disease.
TLDR
For unusual phenotypes of AD, especially cases presenting with a biological ambiguity suggesting CJD, determination of CSF t-PrP levels increased diagnostic accuracy, and the use of CSf t- PrP levels may be beneficial in clinical practice in addition to the current classic biomarkers.
PRION-1 scales analysis supports use of functional outcome measures in prion disease
TLDR
The Barthel and Clinical Dementia Rating scales were the most valid and powerful in simulated clinical trials of an effective therapeutic and a combination of selected subcomponents from these 2 scales gave somewhat increased power, compared to use of survival, to detect clinically relevant effects in future clinical trials.
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases
TLDR
CSF t-PrP concentrations may have a role as a pre-clinical or early symptomatic diagnostic biomarker in prion diseases as well as in the evaluation of therapeutic interventions.
The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias
TLDR
CSF NfL showed accuracy similar to that of t-tau in discriminating CJD from other NDs, but it had higher efficacy in differentiating atypical forms, especially in regard to Alzheimer’s disease.
Molecular pathology, classification, and diagnosis of sporadic human prion disease variants.
TLDR
The origin of prion strains and their co-occurrence as well as the mechanisms underlying the strain-specific neuronal targeting remain largely unexplained and their understanding constitute, together with the development of successful therapies and more sensitive and specific clinical biomarkers, the major challenges that this disease poses for the future.
Prions in the urine of patients with variant Creutzfeldt-Jakob disease.
TLDR
PrP(Sc) was detectable only in the urine of patients with variant Creutzfeldt-Jakob disease and had the typical electrophoretic profile associated with this disease.
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