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. 2021 Sep 6;37(11):1570–1582. doi: 10.1007/s12264-021-00764-y

Table 4.

Results of the patients with various mutants of PRNP in clinical examinations and laboratory tests

Mutation Number EEG
PSWC1 		MRI CSF PRNP
(+)2 Ribbon-like signal High signal in caudate/putamen High signal in pulvinar 14-3-3 (+) Tau (>1400 pg/ml) RT-QuIC (+) 129 (MM) 129 (MV) 219 (EE) 219 (EK)
P102L 14

2/10

(20.0%)

12/13

(92.3%)

9/11

(81.8%)

8/13

(61.5%)

2/11

(18.2%)

6/13

(41.2%)

5/12

(23.8%)

7/11

(63.6%)

 14 0 11 0
P105L 1 1/1 0/1 0/1 0/1 0/1 0/1 / 0/1 1 0 1 0
G114V 2 0/1 0/1 0/1 0/1 0/1 0/1 1/1 0/1 2 0 / /
R148H 2 0/1 0/2 0/2 0/2 0/2 0/2 / / 2 0 1 0
D178N 56

1/48

(2.1%)

12/47

(25.5%)

6/37

(16.2%)

5/46

(10.9%)

5/46

(10.9%)

21/54

(38.9%)

24/41

(58.5%)

6/37

(15.8%)

 56 0 38 1
V180I 1 / 1/1 / 1/1 0/1 0/1 1/1 0/1 1 0 / /
T183A 1 / / / / / 0/1 1/1 1/1 1 0 1 0
T188K 65

17/61

(27.9%)

50/64

(78.1%)

49/63

(77.8%)

19/65

(29.2%)

4/63

(6.3%)

38/61

(62.3%)

21/39

(53.8%)

9/35

(25.7%)

 64 1 54 1
E196A 16

4/16

(25%)

11/15

(73.3%)

9/14

(64.3%)

6/15

(40.0%)

3/13

(23.1%)

12/16

(75.0%)

8/10

(80.0%)

6/16

(37.5%)

 16 0 13 1
E196K 5 0/4 4/5 4/5 2/5 0/5 3/5 2/3 3/5 5 0 4 0
E200G 1 0/1 / / / / 1/1 1/1 0/1 1 0 / /
E200K 41

16/33

(48.5%)

35/41

(85.4%)

26/37

(70.3%)

27/41

(65.9%)

9/35

(25.7%)

27/38,

(71.1%)

17/25

(68.0%)

11/25

(44.0%)

 40 1 38 0
V203I 3 2/3 2/3 2/2 1/3 0/3 2/3 1/3 1/3 3 0 2 0
R208H 3 1/1 1/2 1/1 1/2 1/2 2/3 1/2 1/2 3 0 1 0
V210I 3 2/2 3/3 3/3 1/3 0/3 3/3 / 1/3 2 1 3 0
OR-mut 4 0/2 1/2 1/2 1/2 1/2 2/3 1/1 0/1 3 1 2 0
Total 218

46/186

(24.7%)

132/200

(66.0%)

110/179

(61.5%)

72/200

(36.0%)

25/188

(13.3%)

117/190

(61.6%)

84/140

(60.0%)

46/143

(32.3%)

214

(98.2%)

4

(1.8%)

169

(98.3%)

3

(1.7%)

1typical PSWC.

2one of three abnormalities considered positive in MRI.