Table 2.
Demographics and clinical data of the GD, GBA-PD patients and controls.
| Patients | GD Type | Type of Therapy | Sex | Age, Years |
Mutation in the GBA1 Gene | GCase Residual Activity in Blood, % |
HexSph Concentration in Blood, % |
|---|---|---|---|---|---|---|---|
| GD 1 | 1 | ERT | m | 55 | N370S/c84dupG | 0.4 | 6795 |
| GD 2 | 1 | ERT | f | 48 | N370S/L444P | 4.74 | 16,216 |
| GD 3 | 1 | SRT | f | 20 | N370S/L444P | 9.3 | 13,281 |
| GD 4 | 1 | ERT | f | 31 | N370S/L444P | 3.2 | 15,212 |
| GD 5 | 1 | ERT | m | 50 | N370S/- | 4.8 | 1738 |
| GD 6 | 1 | ERT | f | 35 | N370S/R120W | 2.8 | 11,003 |
| GD 7 | 1 | ERT | m | 29 | N370S/L444P | 5.9 | 27,413 |
| GD 8 | 1 | - | m | 26 | N370S/R120W | 10.3 | 45,637 |
| GD 9 | 1 | ERT | f | 42 | N370S/W184R | 5.1 | 21,042 |
| GBA-PD 1 | - | L-DOPA | f | 62 | WT/L444P | 52.6 | 320 |
| GBA-PD 2 | - | L-DOPA | f | 50 | WT/L444P | 50.1 | 192 |
| GBA-PD 3 | - | L-DOPA | m | 42 | N370S/WT | 78.8 | 294 |
| GBA-PD 4 | - | L-DOPA | f | 66 | N370S/WT | 54.7 | 219 |
| GBA-PD 5 | - | L-DOPA | f | 57 | N370S/WT | 55.6 | 357 |
| GBA-PD 6 | - | L-DOPA | f | 56 | N370S/WT | 38.1 | 201 |
| Controls (n = 7) | - | - | 42% men | 41.3 ± 4.2 | WT/WT | 100 | 100 |
GD—Gaucher disease, GBA-PD—Parkinson’s disease associated with mutation in the GBA1 gene, ERT—enzyme replacement therapy, SRT—substrate reduction therapy, L-DOPA—L-3,4-dihydroxyphenylalanine (Levodopa), WT—wild type, GCase—glucocerebrosidase, HexSph—hexosylsphingosine.