Table. Analysis of CSF samples from patients with CJD and controls by PMCA*.
| Diagnosis | No. patients with positive detection of PrPTSE in CSF and codon 129 genotype/no. tested |
Analytical performance, % (95% CI) | |||
|---|---|---|---|---|---|
| Total | MM | MV | VV | ||
| Clinical CJD | |||||
| Variant CJD | 40/41† | 37/38 | 1/1 | NA | Diagnostic sensitivity 97.6 (87.1–99.9) |
| Definite | 29/29 | 28/28 | 1/1 | NA | |
| Probable | 10/11 | 8/9 | NA | NA | |
| Possible | 1/1 | 1/1 | NA | NA | |
| Sporadic CJD | 0/23† | 0/7 | 0/12 | 0/3 | Analytic specificity 100 (93.7–100) |
| Definite | 0/14 | 0/2‡ | 0/10 | 0/1‡ | |
| Probable | 0/9 | 0/5 | 0/2 | 0/2 | |
| Genetic CJD | 0/1 | 0/1 | NA | NA | Analytic specificity 100 (93.7–100) |
| Non-CJD | Analytic specificity 100 (93.7–100) | ||||
| Alzheimer’s disease | 0/12 | ND | ND | ND | |
| Other nonneurodegenerative diseases | 0/21 | ND | ND | ND | |
*CJD, Creutzfeldt-Jakob disease; CSF, cerebrospinal fluid; MM, methionine homozygous; MV, methionine/valine heterozygous; NA, not available; ND, not determined; PMCA, protein misfolding cyclic amplification; PrPTSE, abnormal prion protein; VV, valine homozygous. †Genotyping of the prion protein gene at codon 129 was not conducted for 2 patients with variant CJD and 1 patient with sporadic CJD. ‡The protease-resistant protein subtype was available for 3 patients with definite sporadic CJD and showed an equal distribution of MM1, MM2a, and VV2a.