Table 6.
Neuropathological classification, PRNP gene sequencing, and CSF data in individual patients with genetic prion diseases.
| Classification |
PRNP gene mutation, codon 129, and chromosomal configuration |
RT-QuIC | 14-3-3 | Tau >1150 pg/ml |
Tau (pg/ml) |
|---|---|---|---|---|---|
| gCJD | p.E200K-p.129M (p.129M/M) | + | − | + | 2576 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 2942 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 4564 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 3811 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 7698 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 7045 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 7698 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 7045 |
| gCJD | p.E200K-p.129M (p.129M/M) | + | + | + | 6627 |
| gCJD | p.E200K-p.129V (p.129M/V) | + | + | + | 20360 |
| gCJD | p.E200K-p.129M (p.129M/V) | + | − | − | 991 |
| gCJD | p.E200K-p.129V(p.129V/V) | + | + | + | 4033 |
| gCJD | p.V210I-p.129M (p.129M/M) | + | + | + | 4180 |
| gCJD | p.V210I-p.129M (p.129M/M) | + | + | + | 8468 |
| FFI | p.D178N-p.129M (p.129M/M) | + | − | + | 4536 |
| GSS | p.A117V-p.129V (p.129V/V) | − | − | − | 301 |
| GSS | p.P102L-p.1296M (p.129M/M) | + | + | + | 5647 |