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. 2020 Apr 17;91(7):695–702. doi: 10.1136/jnnp-2020-322857

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.