Table 3.
Demographic findings in the gCJD and FFI groups and comparison with sCJD subtypes
| Age at onset (years) | Disease duration (months) | |||||||
|---|---|---|---|---|---|---|---|---|
| n | F, % | Genetic | Sporadic | p | Genetic | Sporadic | p | |
| 129M-type 1 | MM(V)1 | MM(V)1 | ||||||
| Overall | 141 | 44.7 | 64.3±10.4a,b | 69.2±9.2 | < 0.0001 | 7.5 ± 16.8c-e | 4.1±3.8 | 0.0318 |
| E200K | 58 | 44.8 | 62.1±9.4g,k,l | “ | <0.0001 | 4.5±2.7h,m,n | “ | ns |
| V210I | 51 | 37.3 | 64.6±9.7h | “ | 0.0392 | 3.8±3.3h | “ | ns |
| 3/4-OPRI | 6 | 33.3 | 65.0±3.9g | “ | ns | 8.6±4.6h | “ | ns |
| 5/6-OPRI | 6 | 50.0 | 45.8±7.9i,o | “ | <0.0001 | 65.7±54.3i,p | “ | <0.0001 |
| Others A§ | 20 | 65.0 | 68.3±11.3 | “ | ns | 7.4±8.2 | “ | ns |
| 129V-type 2 | VV2/MV2K | VV2/MV2K | ||||||
| Overall | 17 | 76.5 | 63.5±8.2f | 64.5±11.9 | ns | 9.0±6.6 | 9.8±8.3 | ns |
| E200K | 5 | 80.0 | 58.8±8.0 | “ | ns | 7.0±3.8 | " | ns |
| 5/6-OPRI | 9 | 88.9 | 65.0±8.9 | “ | ns | 8.3±4.8 | " | ns |
| Others B¶ | 3 | 33.3 | 66.7±4.0 | “ | ns | 19.3±11.7 | " | ns |
| 129V-type 1 | VV1 | VV1 | ||||||
| Overall | 19 | 47.4 | 51.2±11.3 | 42.0±10.2 | ns | 17.4±9.6 | 18.4±3.4 | ns |
| D178N | 13 | 53.8 | 45.7±6.2j,q | “ | ns | 20.2±10.1 | “ | ns |
| T188R | 6 | 33.3 | 64.4±9.9 | “ | 0.0009 | 10.8±2.7 | “ | ns |
| 129M-type 2T (FFI) | MM2T | MM2T | ||||||
| D178N | 13 | 46.1 | 54.4±8.9 | 42.0±10.3 | 0.0155 | 16.2±9.2 | 18.2±5.1 | ns |
| 129M-type 2C | MM2C | MM2C | ||||||
| Overall | 5 | 60.0 | 62.4±7.1 | 61.5±16.4 | ns | 30.4±37.6 | 17.9±8.5 | ns |
| E200K | 4 | 50.0 | 61.7±8.1 | “ | ns | 14.0±9.4 | “ | ns |
| 5-OPRI | 1 | 100 | 65 | “ | – | 96 | “ | – |
| 129M-type “i” | ||||||||
| E200K | 8 | 50.0 | 60.1±7.0 | – | – | 16.5±15.1 | – | – |
| Atypical | ||||||||
| T183A-129M | 2 | 0.0 | 40.5±0.7 | – | – | 78.0±42.4 | – | – |
| 5/6-OPRI-129V | 3 | 100 | 58.7±10.4 | – | – | 11.7±0.6 | – | – |
The names of histo-molecular groups in both genetic and sporadic CJD are in bold
§Others A includes: R208H, n = 7; V203I, n = 3; E196A/K, n = 6; T188K, n = 1; R148H, n = 1; D211Q, n = 2
¶Others B includes R208H, n = 1; E196K, n = 1; T188A, n = 1. The 3/4-OPRI group includes both 3-OPRI and 4-OPRI, 5/6-OPRI includes both 5-OPRI and 6-OPRI cases
a−fStatistically significant comparisons between genetic groups (overall data): avs. 129V-type 1, p ≤ 0.001. bvs. FFI, p ≤ 0.05. cvs. 129V-type 1, p ≤ 0.0001. dvs. FFI, p ≤ 0.0001. evs. 129M-type “i” p ≤ 0.01. fvs. 129V-type 1, p ≤ 0.05
g−jStatistically significant comparisons between PRPN mutations within each genetic group: gvs. 129M-type 1 5/6-OPRI, p ≤ 0.01. hCompared to 129M-type 1 5/6-OPRI, p ≤ 0.0001. iCompared to 129M-type 1 Others A, p ≤ 0.0001. jCompared to 129V-type 1 T188R, p ≤ 0.001
k−qStatistically significant comparisons between carriers of the same PRNP mutation belonging to different groups: kvs. 129M-type 2C E200K, p ≤ 0.001. lvs. 129M-type “i” E200K, p ≤ 0.001. mvs. 129M-type 2C E200K, p ≤ 0.01. nvs. 129M-type “i” E200K, p ≤ 0.01. ovs. 129V-type 2 5/6-OPRI, p ≤ 0.01. pvs. 129V-type 2 5/6-OPRI, p ≤ 0.05, qvs. FFI, p ≤ 0.01