Table 3.
Characteristic of Gaucher disease type 1 patients, GBA1 heterozygotes, and non-carriers
Parkinsonism | No parkinsonism | p values | |
---|---|---|---|
Gaucher disease type 1 | n=7 | n=74 | |
Women, n (%) | 6 (85.7) | 42 (56.8) | 0.23 |
Age of onset of parkinsonism, y | 41 (40, 65) | - | |
Age at ascertainment, y | 63 (42, 72) | 47 (42, 54) | 0.03 |
Ascertained at age >60, n (%) | 5 (71.4) | 8 (10.8) | 0.001 |
Ascertained family member with parkinsonism, n (%) | 3 (42.9) | 19 (25.7) | 0.38 |
Age GD diagnosis, y | 47 (31,60) | 32 (21, 42) | 0.02 |
GD treatment, n (%) | 3 (42.9) | 82 (78.4) | 0.06 |
Age GD treatment, y | 54 (33,65) | 40 (34,47) | 0.28 |
GBA1 heterozygotes | n=18 | n=189 | |
Women, n (%) | 10 (55.6) | 87 (46.0) | 0.44 |
Age of onset of parkinsonism, y | 62.5 (55, 67) | - | |
Age at ascertainment, y | 67.5 (60, 72) | 50 (41, 68) | 0.006 |
Ascertained at age >60, n (%) | 13 (72.2) | 72 (38.1) | 0.005 |
Ascertained family member with parkinsonism, n (%) | 8 (44.4) | 46 (24.3) | 0.09 |
Genotype, n (%) | 0.006* | ||
N370S | 3 (16.7) | 96 (50.8) | |
non-N370S | 15 (83.3) | 93 (49.2) | |
Non-carriers | n=1 | n=44 | |
Women | 1 | 21 (47.7) | |
Age of onset of parkinsonism, y | 63 | - | |
Age at ascertainment, y | 65 | 53 (40, 62) | |
Ascertained at age >60, n (%) | 1 | 13 (29.5) | |
Ascertained family member with parkinsonism, n (%) | 0 | 3 (6.8) |
Years are reported as medians with interquartile ranges unless otherwise specified
p value is for the 2×2 chi-squared test