|
Haplotypes (129 cis)
|
Trans codon
|
n
|
Type 1 PrPSc
|
Type 2 PrPSc
|
Type 1 & 2 PrPSc
|
All PrPScTypes
|
|---|
|
%
|
Disease duration
|
%
|
Disease duration
|
% types
|
Disease duration
|
Disease duration
|
Age at onset
|
|---|
|
129
|
type 1
|
(mean ± SD; range)
|
type 2
|
(months, mean ± SD; range)
|
1 and 2
|
(months, mean ± SD; range)
|
(months, mean ± SD; range)
|
(years mean ± SD; range)
|
|---|
|
E200K-129V
|
| |
M
|
7
|
0
|
-
|
86%
|
8 ± 1
|
14%
|
10
|
8 ± 1
|
56 ± 12
|
| | | | | |
(n = 6)
|
(7–9)
|
(n = 1)
| |
(7–10)
|
(37–67)
|
| |
V
|
4
|
0
|
-
|
100%
|
10 ± 6
|
0
|
-
|
10 ± 6
|
54 ± 12
|
| | | | | |
(n = 4)
|
(2–17)
|
(2–17)
|
(37–66)
|
|
All
| |
11
|
0
|
-
|
91%
|
9 ± 4
|
8%
|
10
|
9 ± 4
a
|
55 ± 11
|
| | | | | |
(10)
|
(2–17)
|
(n = 1)
|
(2–17)
|
(37–67)
|
|
E200K-129M
|
| |
M
|
54
|
91%
|
4 ± 2
|
0
|
-
|
9%
|
4 ± 2
|
4 ± 2
b
|
59 ± 11
|
| | | |
(n = 49)
|
(1–12)
| | |
(n = 5)
|
(2–7)
|
(1–12)
|
(40–85)
|
| |
V
|
19
|
47%
|
5.5 ± 3
c
|
26.5%
|
16.5 ± 8
c
|
26.5%
|
7 ± 4
|
9 ± 7
b
|
63 ± 7
|
| | | |
(n = 9)
|
(3–10)
|
(n = 5)
|
(6.5-29)
|
(n = 5)
|
(2–11)
|
(2–29)
|
(53–76)
|
|
All
| |
73
|
79%
|
4 ± 2
|
7%
|
16.5 ± 8
|
14%
|
5 ± 3
|
5 ± 4.5
a
|
60 ± 10
|
| | |
(n = 58)
|
(1–12)
|
(n = 5)
|
(6.5-29)
|
(n = 10)
|
(2–11)
|
(1–29)
|
(40–85)
|
-
Abbreviations and Definitions: n Number of cases, Bold denotes subgroups with significant differences. a E200K-129V had longer duration than E200K-129M (p = 0.029); b E200K-129M(V) lived longer than E200K-129MM (p = 0.004); c Among E200K-129M(V), PrPSc type 2 lived significantly longer than type 1 (p = 0.036). All other groups did not differ significantly from each other in disease duration or age at onset.
