Table 1.
Summary of participants and plasma samples included in the study, and summary statistics for plasma tau and NfL concentrations for each diagnostic group.
| Diagnostic groups | Individuals | Samples | Age | Plasma tau (pg/mL) | Plasma NfL (pg/mL) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | n | Mean (SD) | Min | Q1 | Median | Q3 | Max | Min | Q1 | Median | Q3 | Max | ||
| Healthy controls | All | 34 | 45 | 48.4 (12.6) | 0.57 | 1.21 | 1.75 | 2.38 | 6.37 | 2.42 | 4.60 | 5.81 | 7.92 | 23.70 |
| Age | <60 | 25 | 34 | 42.6 (9.3) | 0.57 | 1.05 | 1.54 | 2.26 | 6.37 | 2.42 | 4.41 | 5.22 | 7.04 | 23.70 |
| >60 | 9 | 11 | 64.4 (2.8) | 1.11 | 1.39 | 2.02 | 2.58 | 2.76 | 5.93 | 6.64 | 7.92 | 9.92 | 16.16 | |
| AD | 31 | 31 | 61.6 (8.6) | 1.64 | 2.31 | 3.13 | 4.96 | 8.11 | 8.11 | 13.27 | 15.30 | 23.49 | 48.21 | |
| FTD | 33 | 33 | 64.5 (7.3) | 0.75 | 1.73 | 2.13 | 3.27 | 5.91 | 7.03 | 19.12 | 29.47 | 38.13 | 122.48 | |
| CJD mimics | See A | 24 | 24 | 68.0 (11.5) | 0.60 | 1.81 | 3.04 | 3.67 | 10.19 | 9.09 | 25.49 | 53.90 | 196.46 | 593.34 |
| Sporadic CJD | All | 231 | 301 | 65.4 (9.0) | 0.76 | 3.70 | 7.69 | 26.30 | 1470.00 | 28.03 | 95.63 | 157.79 | 264.98 | 1190.00 |
| PRNP c129 | MM | 90 | 99 | 0.78 | 12.04 | 30.65 | 53.50 | 1470.00 | 29.83 | 104.92 | 172.98 | 346.71 | 1160.21 | |
| MV | 74 | 123 | 0.76 | 2.20 | 3.71 | 6.34 | 32.40 | 28.03 | 78.76 | 130.89 | 213.43 | 528.50 | ||
| VV | 48 | 59 | 1.61 | 3.59 | 5.42 | 8.75 | 34.81 | 67.06 | 100.54 | 176.15 | 283.63 | 1190.00 | ||
| Unknown | 19 | 20 | 1.57 | 2.26 | 3.19 | 4.45 | 20.74 | 73.00 | 99.88 | 160.24 | 241.31 | 307.23 | ||
| Iatrogenic CJD | 14 | 18 | 45.3 (6.4) | 0.76 | 2.69 | 5.43 | 9.66 | 75.90 | 67.62 | 82.51 | 121.06 | 211.78 | 452.01 | |
| Variant CJD | All | 17 | 50 | 33.2 (12.2) | 0.87 | 2.10 | 3.35 | 3.69 | 54.34 | 39.05 | 47.28 | 74.72 | 95.00 | 138.70 |
| PRNP c129 | MM | 16 | 46 | 0.87 | 2.10 | 3.36 | 4.09 | 54.34 | 39.05 | 47.70 | 77.49 | 96.16 | 138.70 | |
| MV | 1 | 4 | 2.10 | 47.28 | ||||||||||
| Asymptomatic IPD | See B | 23 | 70 | 39.4 (13.0) | 0.74 | 1.83 | 2.51 | 4.37 | 8.00 | 2.64 | 3.50 | 5.24 | 8.38 | 28.35 |
| Converting IPD | See C | 9 | 47 | 41.7 (11.0) | 2.13 | 2.36 | 2.70 | 2.89 | 4.46 | 3.17 | 4.01 | 9.57 | 12.80 | 14.02 |
| Symptomatic IPD | See D | 83 | 223 | 50.5 (12.3) | 1.03 | 2.07 | 3.44 | 6.13 | 60.85 | 4.51 | 14.76 | 35.97 | 108.50 | 833.56 |
Rows in italics show subgroups of the diagnostic group in the row above
Biomarker summary statistics based on earliest available sample from all individuals. A – CJD mimic group includes patients with the following diagnoses (n): Lewy Body Dementia (6), Alzheimer’s disease (AD) (4), autoimmune encephalitis (4), AD and cerebrovascular (2), cerebrovascular disease (2), CNS lymphoma (1), frontotemporal dementia with motor neurone disease (1), progressive multifocal leukoencephalopathy (1), familial dementia with no identified cause (1), hepatic encephalopathy (1), multiple system atrophy (1); B - P102L (9), E200K (7), D178N (2), Y163X (2), 5OPRI (1), 6OPRI (1), A117V (1); C - 5OPRI (1), 6OPRI (1), D178N (1), E200K (1), P102L (5); All individuals with “Converting IPD” were asymptomatic when the blood sample included in this dataset was taken, but subsequently developed symptomatic inherited prion disease during follow up (range 0–8 years from first sample); D - P102L (26), 6OPRI (19), E200K (10), 5OPRI (7), D178N (6), A117V (5), 4OPRI (3), Y163X (3), E196K (1), P105L (1), Q212P (1), V210I (1).