Table 2.
Time to dementia
| Non-carriers | All GBA1 variants | Non-pathogenic variants | Pathogenic mutations | |
| Number | 214 | 48 | 25 | 17 |
| Estimated mean time to dementia (years) | 13.7 (12.6 to 14.7) | 8.6 (7.2 to 10.0) | 8.3 (6.4 to 10.2) | 8.3 (6.2 to 10.3) |
| Estimated median time to dementia (years) | * | 8.5 (6.9 to 10.1) | 8.3 (5.4 to 11.3) | 8.5 (4.1 to 12.9) |
| 5-year survival without dementia (%) | 85.3 (SE 2.7) | 80.2 (SE 6.3) | 82.3 (SE 8.0) | 74.0 (SE 11.2) |
| 10-year survival without dementia (%) | 68.4 (SE 4.3) | 45.7 (SE 9.8) | 43.2 (SE 12.5) | 43.2 (SE 16.0) |
| 15-year survival without dementia (%) | 64.2 (SE 5.8) | 0 | 0 | 0 |
| Log-rank p value | – | 0.013 | 0.014 | 0.109 |
| HR | – | 2.1 (1.2 to 3.9; p=0.013) | 1.8 (0.9 to 3.8; p=0.110) | 3.6 (1.6 to 8.3; p=0.003) |
Long-term follow-up data for progression to dementia 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 and baseline MMSE 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.
*Fewer than half reached outcome
MMSE, Mini-Mental State Examination.