Table 4.
Comparison of demographic, histopathologic and molecular features among sCJD MM1, MV1, VV1, and VM1
| sCJD subtype | MM1# | MV1# | VV1§ | VM1 |
|---|---|---|---|---|
| n | 74* | 22 | 7 | 6 |
| Female (%) | 38 (51.4) | 8 (38.1) | 1 (14.3) | 1 (16.7) |
| Age at onset (years) | 69.7 ± 10.2 | 68.8 ± 9.4 | 46.0 ± 10.8 | 74.7 ± 5.6 |
| Disease duration (months) | 3.4 ± 1.8 | 3.7 ± 1.8 | 18.0 ± 3.2 | 20.5 ± 6.1 |
| Histopathologic features | ||||
| Vacuoles size | Small | Small | Intermediate | Intermediate |
| Lesion profile | Of variable severity in cerebral cortex, striatum, thalamus and cerebellum; hippocampus and amygdala spared | Virtually indistinguishable from MM1 | Cerebral cortex and striatum severely affected, cerebellum relatively spared | Cerebral cortex and striatum moderately to severely affected, moderate changes in cerebellum |
| PrP deposits | Synaptic | Synaptic | Faint synaptic | Focally patchy in the molecular layer of cerebellum; faint synaptic elsewhere |
| PrPres characteristics | ||||
| WB profile of unglycosylated PrPres | 21 kDa | 21 kDa | Doublet at 21 and 20 kDa | Doublet at 21 and 20 kDa |
| PrPres glycoform ratio | Diglycosylated > unglycosylated isoform | Diglycosylated > unglycosylated isoform | Unglycosylated > diglycosylated isoform | Unglycosylated > diglycosylated isoform |
| C-terminal 12–13 kDa PrPres fragments** | ± | ± | ++ | ++ |
| PrPres migration shift at pH 6.9 vs 8.0 | Yes | Yes | Less pronounced than in MM1/MV1 | Less pronounced than in MM1/MV1 |
Continuous variables are expressed as mean ± SD. #sCJD MM1, MV1, and VV1 were from the ISNB cohort (2002–2021). §Given the very low incidence of sCJD VV1 cases in the ISNB cohort (n = 2), we also considered the demographic features of five previously published cases [12]. *from a consecutive series between 2017 and 2019. **Relative intensity of C-terminal 12–13 kDa fragments compared to the unglycosylated PrPres signal at western blot. Legend: WB, western blot