Table 2.
Pattern of PrPSc deposition in gCJD and FFI groups
| gCJD groups | n | Cerebellar or cortical synaptic§,¶ | Cortical coarse/perivacuolar | Cerebellar (G.L.) or thalamic plaque-like | Cerebellar (M.L.) and cortical | Cerebellar kuru plaques | Intra-neuronal globular |
|---|---|---|---|---|---|---|---|
| and PRNP mutations | mini plaque-like | ||||||
| n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | ||
| 129M-type 1 | 127 | 127 (100) | 39 (30.7) | 3 (2.3)¥ | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| V210I | 50 | 50 (100) | 24 (48.0) | 1 (2.0) | – | – | – |
| E200K | 46 | 46 (100) | 11 (23.9) | – | – | – | – |
| 3 to 6-OPRI | 12 | 12 (100) | 2 (16.7) | 1 (8.3) | – | – | – |
| R208H | 6 | 6 (100) | 1 (16.7) | 1 (16.7) | – | – | – |
| E196A/K | 6 | 6 (100) | – | – | – | – | – |
| Others A$ | 7 | 7 (100) | 1 (14.3)# | – | – | – | – |
| 129V-type 2 | 17 | 14 (82.3) | 0 (0.0) | 17 (100) | 0 (0.0) | 4 (23.5) | 5 (29.4) |
| 5/6-OPRI | 9 | 7 (77.8) | – | 9 (100) | – | 3 (33.3) | – |
| E200K | 5 | 5 (100) | – | 5 (100) | – | – | 5 (100) |
| Others B& | 3 | 2 (66.7) | – | 3 (100) | – | 1 (33.3)* | – |
| 129V-type 1 | 15 | 0 (0.0) | 0 (0.0) | 0 (0.0) | 15 (100) | 0 (0.0) | 0 (0.0) |
| D178N | 8 | – | – | – | 8 (100) | – | – |
| T188R | 7 | – | – | – | 7 (100) | – | – |
| 129M-type 2 | 18 | 9 (50.0) | 5 (27.8) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| D178N | 13 | 5 (38.5) | – | – | – | – | – |
| E200K | 4 | 4 (100) | 4 (100) | – | – | – | – |
| 5-OPRI | 1 | – | 1 (100) | – | – | – | – |
| 129M-type “i” | 8 | 8 (100) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 8 (100) |
| E200K | 8 | 8 (100) | – | − | – | – | 8 (100) |
| Atypical | 5 | 2 (40.0) | 0 (0.0) | 0 (0.0) | 5 (100) | 0 (0.0) | 0 (0.0) |
| T183Aa | 2 | 1 (50.0) | – | – | 2 (100) | – | – |
| 5/6-OPRIb | 3 | 1 (33.3) | – | – | 3 (100) | – | – |
Bold values indicate the results obtained in the six histo-molecular gCJD groups irrespective of the mutations
G.L. granular layer, M.L. molecular layer
§A modified, “thickened” synaptic pattern of PrP deposition was evident in: 22 (47.8%) E200K 129M-type 1, 4 (66.7%) E196A/K 129M-type 1, 2 (40.0%) E200K 129V-type 2, 4 (100%) E200K 129M-type 2, and 3 (37.5%) E200K 129M-type “i”
¶A modified, synaptic pattern with cerebellar “stripes” in the M.L. was evident in: 10 (83.3%) OPRI 129M-type 1, 9 (100%) OPRI 129V-type 2, and 1 (33.3%) OPRI 129V- “atypical” type 1 + 2
$Others A included: V203I, n = 3; T188K, n = 1; R148H, n = 1; D211Q, n = 2
&Others B included R208H, n = 1; E196K, n = 1; T188A, n = 1
#Patient carrying the V203I variant
¥The 3 cases showing plaque-like PrP deposits had a disease duration significantly longer compared with the others of the 129M-type 1 group (V210I, 18 months; 5-OPRI, 121 months; R208H, 11 months) and showed a severe panencephalopathic neuropathologic phenotype
a129M-type 2
b129V-type 1 + 2
*R208H-129V