|
Patient
|
Gender
|
Age (years)
|
Genotype
|
3′-UTR SNP (rs708606) Allele1/Allele2
|
SPX
|
Age at diagnosis (years)
|
Treatment duration (years)
|
Current treatment
|
Severity Scores
|
Hb (g/dL)
|
Plat (× 109/L)
|
Current ChT activity (nmol/hr./mL)
|
|---|
|
SSI
|
DS3
|
|---|
|
1
|
M
|
22
|
N370S/G202R
|
C/C
|
N
|
8
|
14
|
ERT
|
0
|
0
|
14.7
|
181
|
3338
|
|
2
|
F
|
23
|
N370S/L444P
|
C/T
|
N
|
20
|
3
|
ERT
|
2
|
0.7
|
13.2
|
191
|
4943
|
|
3
|
F
|
23
|
N370S/RecNciI
|
C/C
|
N
|
7
|
15
|
ERT
|
0
|
0
|
11.8
|
277
|
399
|
|
4
|
F
|
25
|
N370S/L444P
|
C/C
|
N
|
15
|
10
|
ERT
|
0
|
0
|
13.2
|
152
|
389
|
|
5
|
M
|
26
|
N370S/IVS9 + 1G > A
|
C/T
|
N
|
10
|
15
|
ERT
|
4
|
1.7
|
16.2
|
134
|
4521
|
|
6a
|
F
|
27
|
N370S/RecNciI
|
C/C
|
N
|
10
|
17
|
SRT
|
5
|
1.6
|
11.6
|
157
|
6314
|
|
7
|
F
|
28
|
N370S/L461P + IVS10 + 1G > T
|
C/C
|
N
|
4
|
24
|
ERT
|
1
|
0.7
|
12.9
|
122
|
3665
|
|
8
|
M
|
31
|
N370S/RecNciI
|
C/C
|
N
|
14
|
16
|
ERT
|
1
|
2.7
|
15.1
|
203
|
1463
|
|
9a
|
F
|
32
|
N370S/L444P
|
C/C
|
N
|
11
|
21
|
ERT
|
0
|
0
|
13.6
|
202
|
2847
|
|
10
|
M
|
37
|
N370S/ L444P + E326K
|
C/T
|
N
|
27
|
6
|
ERT
|
1
|
0
|
16.0
|
179
|
629
|
|
11
|
F
|
38
|
N370S/RecNciI
|
C/C
|
N
|
35
|
3
|
ERT
|
0
|
0
|
13.4
|
235
|
983
|
|
12
|
F
|
39
|
N370S/ L444P + E326K
|
C/T
|
N
|
29
|
9
|
SRT
|
0
|
0
|
12.5
|
167
|
2242
|
|
13
|
M
|
41
|
N370S/L444P
|
C/T
|
Y
|
26
|
16
|
ERT
|
5
|
1.7
|
14.2
|
328
|
1854
|
|
14
|
M
|
45
|
N370S/L444P
|
C/T
|
N
|
37
|
6
|
ERT
|
3
|
0.5
|
15.0
|
205
|
306
|
|
15
|
F
|
49
|
E349K/S366 N
|
C/T
|
N
|
42
|
6
|
ERT
|
5
|
2.6
|
15.5
|
291
|
616
|
|
16
|
F
|
51
|
N370S/RecNciI
|
C/C
|
Y
|
34
|
17
|
ERT
|
11
|
2.9
|
14.2
|
434
|
1055
|
|
17
|
M
|
52
|
N370S/RecNciI
|
C/C
|
N
|
44
|
6
|
ERT
|
2
|
2.2
|
15.4
|
120
|
1451
|
|
18
|
M
|
57
|
N370S/RecNciI
|
C/C
|
N
|
50
|
7
|
ERT
|
3
|
0
|
16.4
|
170
|
1085
|
|
19
|
F
|
62
|
N370S/RecNciI
|
C/C
|
N
|
42
|
20
|
ERT
|
3
|
2.5
|
13.6
|
149
|
265
|
|
20
|
M
|
63
|
N370S/RecNciI
|
C/C
|
Y
|
49
|
11
|
ERT
|
9
|
7
|
15.3
|
222
|
440
|
|
21
|
M
|
64
|
N370S/N370S
|
C/C
|
N
|
54
|
9
|
ERT
|
2
|
1.1
|
13.3
|
143
|
1860
|
|
22
|
F
|
67
|
N370S/L444R
|
C/T
|
Y
|
60
|
7
|
ERT
|
4
|
2.6
|
14.4
|
268
|
240
|
|
23
|
F
|
67
|
N370S/RecNciI
|
C/C
|
N
|
57
|
6
|
ERT
|
4
|
1.9
|
14.0
|
161
|
223
|
- 3′-UTR SNP (rs708606) C is the wild form, SPX splenectomy, N no, Y yes, ERT enzyme replacement therapy, SRT substrate reduction therapy, SSI Zimran Severity Score Index (mild = 0–10; moderate = 11–19; severe ≥20), DS3 Disease Severity Score (mild = < 3.00; moderate = 3.00–5.99; marked = 6.00–19), Hb hemoglobin, Plat platelet count, ChT chitotriosidase activity (normal range: < 78.5 nmol/hr./mL). aPatients with reported family history of Parkinson’s disease
