Unmet needs of biochemical biomarkers for human prion diseases

Figures & data

Table 1. Current state of biomarkers for prion diseases.

Biomarker	At risk biomarker	diagnostic marker (clinical disease)	prognostic marker (disease progression)	dynamic marker (disease stage/activity)
Biochemical markers
PrPSc CSF	+	+	?	?
PrPSc peripheral fluids	+	+	?	?
14-3-3 CSF	-	+	-	+
Tau CSF	-	+	+	+
Tau Plasma	-	+	+	+
NfL CSF	-	(+)	(+)	(+)
NfL plasma	-	(+)	(+)	(+)
Other
PSWCs in EEG	-	+	-	+
high signal in MRI in FLAIR and/or DWI	(+)	+	-*	(+)

‘+’: Association and/or applicability was shown in significant studies; “-“: Association was not shown in significant studies; ?: no significant data available; ‘()’: In brackets when data is ambiguous or only based on case reports.

*In combination with analysis of the Codon 129 PRNP genotype, MRI lesion patterns may contribute to an antemortem disease subtyping and by this, function as a prognostic marker.

Figure 1. The phases of preclinical prion disease.

The figure is a flow chart with text boxes, indicating the steps of prion disease evolution from disposition to PrPSc pathology to neurodegeneration to symptom onset (left to right, upper image). Below, text boxes indicate unanswered questions related to these steps, such as the relevance and penetrance of genetic risk factors, the timeframes of each subclinical stage, and the lack of available biomarkers to predict clinical onset reliably.

Data availability statement

Data sharing is not applicable to this article as no new data were created or analysed for this narrative review article.