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Table 1 Demographic and clinical characteristics of patients with Gaucher disease type 1 (n = 23)

From: Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

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
  1. 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