Table 3 Comparison of clinical features in carriers and non-carriers of deleterious GCH1 variants in the WES cohort

Age at onset (years) ^a

38.89 ± 16.44

46.12 ± 8.07

−7.97

< 0.0001

Age at assessment (years) ^a

44.50 ± 150

52.38 ± 8.79

−7.96

< 0.0001

Disease duration (years) ^b

5.61 ± 6.30

6.26 ± 5.16

1.36

0.21

UPDRS−Part I

1.63 ± 1.74

2.45 ± 2.08

−0.63

0.18

UPDRS−Part II

7.26 ± 4.79

12.03 ± 6.87

−3.23

0.02

UPDRS−Part III

16.58 ± 12.37

27.63 ± 15.97

−7.69

0.03

Tremor score

2.63 ± 3.72

3.80 ± 3.77

−0.69

0.42

Stiffness score

3.26 ± 3.33

5.64 ± 4.25

−1.7

0.08

Bradykinesia score

5.90 ± 5.03

10.28 ± 6.67

−3.31

0.02

Postural instability score

2.47 ± 2.32

4.08 ± 3.20

−0.98

0.14

Hoeh and Yahr stage

1.79 ± 0.82

2.20 ± 0.85

−0.30

0.09

Dyskinesia

5.56%

16.44%

0.13

0.07

Freezing gait

11.11%

27.64%

0.33

0.15

 Tremor-dominant

26.32%

26.56%

–

–

 Intermediate

5.26%

17.51%

0.28

0.25

 PIGD−dominant

68.42%

55.92%

1.29

0.64

MMSE

28.58 ± 1.56

27.01 ± 3.20

1.49

0.09

PDSS

116.50 ± 30.89

115.80 ± 29.67

−2.85

0.73

RBDQ−HK

13.67 ± 16.60

13.39 ± 16.01

2.64

0.56

ESS

8.27 ± 6.29

7.37 ± 6.08

1.92

0.28

HAMD

2.67 ± 2.23

5.89 ± 5.62

−0.27

0.88

HRS

20.42 ± 5.63

19.89 ± 6.37

−2.92

0.07

PFS

39.89 ± 16.15

44.22 ± 18.98

−14.62

0.04

SCOPA−AUT

5.30 ± 7.65

7.40 ± 6.87

−1.70

0.79