Background
Methods
Study design
Patients
Neuropathology
Biochemical CSF analysis
Statistical analysis
Results
Study population
Sex | 27 males, 30 females; male-female ratio 0.9 |
---|---|
Age at disease onset (median) | 61.5 (23–81) |
Codon 129 genotype (n = 55) | MM: 39 MV: 3 VV: 13 n.d.: 2 |
PrPSc
| type 1: 32 type 2: 9 |
Duration of disease (months) | 4.26 (1.1–34.3) |
Onset until lumbar punction (months) | 3.02 (0.3–27.8) |
Lumbar punction until death (months) | 0.94 (0–30.8) |
CSF marker | median (range) | reference cut-off* |
---|---|---|
NSE (n = 57) | 70 (9–200) ng/ml | 12.5 ng/ml |
tau (n = 56) | 6764 (3772–27770) pg/ml | 195 pg/ml |
phosphorylated tau (n = 33) | 55 (18.4–138) pg/ml | 61 pg/ml |
14-3-3 (n = 51) | 984 (410–5387) ng/ml | 200 ng/ml |
S 100b (n = 54) | 8 (1.4–39.2) ng/ml | 2 ng/ml |
PrP (n = 45) | 15.7 (1–40.9) ng/100ml | 22 ng/100ml |
Aβ1–42
| 467 (143–959) pg/ml | 849 pg/ml |
Correlation of neuropathological lesion profiles and concentrations of brain-derived proteins in the CSF
Cortical regions | Subcortical regions | Cerebellum | |||||||
---|---|---|---|---|---|---|---|---|---|
CG° | MFG° | ITG° | IPG° | AS° | Putamen | Caudate ncl. | MDT° | ||
NSE
| 0.0709 | 0.0731 | -0.0351 | -0.0485 | -0.0267 | 0.164 | 0.14 | 0.305* | 0.034 |
Tau
| -0.173 | -0.313* | -0.219 | -0.309* | -0.217 | -0.0158 | -0.0963 | 0.024 | 0.239 |
Tau phosphorylated
| -0.302 | -0.0729 | -0.227 | -0.440* | -0.195 | -0.0431 | 0.0466 | 0.282 | 0.375 |
14-3-3
| -0.142 | -0.0968 | -0.275 | -0.317 | -0.198 | 0.0631 | 0.190 | 0.246 | 0.179 |
S 100b
| -0.0686 | -0.0459 | -0.303* | -0.282 | -0.359* | 0.0893 | 0.0864 | 0.242 | -0.005 |
PrP
| -0.276 | -0.0955 | -0.307 | -0.364* | -0.335* | 0.0109 | -0.0289 | 0.00314 | 0.451* |
Aβ
1–42
| -0.453* | -0.233 | -0.560* | -0.356* | -0.426* | -0.159 | -0.248 | 0.0489 | 0.465* |
Cortical regions | Subcortical regions | Cerebellum | |||||||
---|---|---|---|---|---|---|---|---|---|
CG° | MFG° | ITG° | IPG° | AS° | Putamen | Caudate ncl. | MDT° | ||
NSE
| 0.0183 | -0.0846 | 0.0428 | -0.0769 | -0.0586 | 0.216 | 0.216 | -0.114 | 0.202 |
Tau
| -0.233 | -0.229 | -0.159 | -0.276 | -0.158 | 0.121 | 0.0516 | -0.257 | -0.140 |
Tau phosphorylated
| -0.216 | -0.236 | -0.337 | -0.454* | -0.505* | -0.128 | -0.130 | -0.235 | -0.058 |
14-3-3
| -0.146 | -0.170 | -0.103 | -0.154 | -0.118 | 0.0184 | 0.0698 | -0.266 | -0.127 |
S 100b
| -0.169 | -0.203 | -0.192 | -0.344* | -0.282* | 0.195 | 0.199 | -0.254 | -0.0115 |
PrP
| -0.240 | -0.219 | -0.457* | -0.318 | -0.511* | -0.260 | -0.144 | -0.159 | -0.279 |
Aβ
1–42
| -0.386 | -0.295 | -0.661* | -0.315 | -0.488* | -0.387 | -0.302 | -0.321 | -0.0136 |
Cortical regions | Subcortical regions | Cerebellum | |||||||
---|---|---|---|---|---|---|---|---|---|
CG° | MFG° | ITG° | IPG° | AS° | Putamen | Caudate ncl. | MDT° | ||
NSE
| -0.0553 | -0.0280 | 0.0104 | -0.0345 | -0.0445 | 0.298* | 0.265* | 0.0413 | 0.386* |
Tau
| -0.242 | -0.174 | -0.178 | -0.160 | -0.207 | 0.141 | 0.254 | -0.0726 | 0.236 |
Tau phosphorylated
| -0.423* | -0.175 | -0.496* | -0.479* | -0.536* | -0.131 | -0.111 | -0.260 | -0.090 |
14-3-3
| -0.189 | -0.155 | -0.185 | -0.0348 | -0.114 | 0.0775 | 0.198 | -0.132 | -0.110 |
S 100b
| -0.261 | -0.188 | -0.195 | -0.271 | -0.245 | 0.262 | 0.323* | -0.236 | 0.321 |
PrP
| -0.344* | -0.260 | -0.426* | -0.383* | -0.511* | -0.250 | -0.168 | -0.409* | -0.026 |
Aβ
1–42
| -0.517* | -0.387* | -0.495* | -0.396* | -0.462* | -0.306 | -0.357* | -0.387* | 0.038 |
Spongiform change/neuronal loss/gliosis * | ||||
---|---|---|---|---|
Cortical Regions | Subcortical Regions | Cerebellum | ||
basal ganglia | thalamus | |||
NSE
| ↔/↔/↔ | ↔/↑/↑ | ↑/↔/↔ | ↔/↑/↑ |
tau
| ↓/↓/↔ | ↔/↔/↑ | ↔/↓/↔ | ↑/↔/↑ |
phosphorylated tau
| ↓/↓/↓ | ↔/↔/↔ | ↑/↓/↓ | ↑/↔/↔ |
14-3-3
| ↓/↔/↔ | ↔/↔/↔ | ↑/↓/↔ | ↔/↔/↔ |
S 100b
| ↓/↓/↓ | ↔/↔/↑ | ↑/↓/↓ | ↔/↔/↑ |
PrP
| ↓/↓/↓ | ↔/↓/↓ | ↔/↔/↓ | ↑/↓/↔ |
Aβ
1–42
| ↓/↓**/↓ | ↓/↓/↓ | ↔/↓/↓ | ↑/↔/↔ |