Table 3.
Time to HY3
| Non-carriers | All GBA1 variants | Non-pathogenic variants | Pathogenic mutations | |
| Number | 213 | 48 | 25 | 17 |
| Estimated mean time to HY3 (years) | 6.8 (5.9 to 7.6) | 4.7 (3.4 to 5.9) | 4.6 (3.0 to 6.3) | 4.4 (3.0 to 5.9) |
| Estimated median time to HY3 (years) | 6.0 (4.6 to 7.4) | 3.0 (2.5 to 3.5) | 2.8 (2.5 to 3.1) | 4.4 (2.6 to 6.2) |
| 5-year survival without postural instability (%) | 57.0 (SE 3.6) | 32.5 (SE 7.3) | 32.0 (SE 10.0) | 32.4(SE 11.8) |
| 10-year survival without postural instability (%) | 28.7 (SE 4.1) | 9.6 (SE 5.9) | 10.7 (SE 7.0) | 0 |
| 15-year survival without postural instability (%) | 7.7 (SE 3.9) | 9.6 (SE 5.9) | 10.7 (SE 7.0) | 0 |
| Log-rank p value | – | 0.013 | 0.074 | 0.095 |
| HR | – | 1.7 (1.2 to 2.6; p=0.006) | 1.7 (1.0 to 2.9; p=0.035) | 1.9 (1.0 to 3.4; p=0.036) |
Long-term follow-up data for progression to postural instability in PD patients without GBA1 variants compared with those carrying any GBA1 variant, a pathogenic GBA1 mutation or a GBA1 ‘non-pathogenic’ variant.
HR determined by Cox regression analysis controlling for age at diagnosis, sex, baseline HY score, baseline UPDRS motor score and baseline PIGD score. Ninety-five per cent CI for HR and estimated mean and median shown in brackets. Log-rank p values shown for comparison between the GBA1 groups and the non-carrier group. Statistically significant results highlighted in bold.
HY3, Hoehn and Yahr stage three; PIGD, postural instability and gait disability; UPDRS, Unified Parkinson’s Disease Rating Scale.