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

Table 4.

Time to PIGD score of 2 or more

Non-carriers All GBA1 variants Non-pathogenic variants Pathogenic mutations
Number 214 48 25 17
Estimated mean time to PIGD ≥2 (years) 7.7 (7.2 to 8.3) 6.8 (5.6 to 7.9) 6.9 (5.3 to 8.5) 5.7 (4.4 to 7.0)
Estimated median time to PIGD ≥2 (years) 8.6 (7.4 to 9.9) 6.0 (5.1 to 7.0) 6.0 (5.1 to 7.0) 4.9 (3.1 to 6.6)
5-year survival to PIGD ≥2 (%) 76.1 (SE 3.2) 62.6 (SE 8.1) 71.5 (SE 9.9) 48.8 (SE 13.9)
10-year survival to PIGD ≥2 (%) 40.9 (SE 5.6) 37.9 (SE 8.8) 39.0 (SE 12.0) 30.5 (SE 13.5)
Log-rank p value 0.094 0.335 0.066
HR 1.9 (1.1 to 3.2; p=0.015) 1.6 (0.8 to 3.1; p=0.178) 2.8 (1.4 to 5.7; p=0.005)

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 difficulty score; UPDRS, Unified Parkinson’s Disease Rating Scale.