|
Clinical features
|
Deleterious variants
|
|---|
|
Carriers
|
Non − carriers
|
β / OR
|
P value
|
|---|
|
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
|
|
Motor subtype
|
|
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
|
- Results are from linear or logistic regression analyses adjusting for age, sex, BMI, and ancestry. UPDRS Unified Parkinson’s disease rating scale, MMSE Mini-mental state examination, PDSS Parkinson’s disease sleep scale, RBDQ-HK Rapid eyes movement sleep behavior disorder questionnaire-Hong Kong, ESS Epworth sleepiness scale, HAMD 17-item Hamilton depression rating Scale, HRS Hyposmia rating Scale, PFS Parkinson’s disease fatigue scale, SCOPA-AUT Scales for outcomes in Parkinson’s disease-autonomic, PDQ39 The 39-item Parkinson’s disease Questionnaire, PFS Parkinson’s disease fatigue scale. According to the score from UPDRS, motor subtype [42] was classified as tremor-dominant (TD) phenotype when the ratio of tremor score to postural instability and gait difficulty (PIGD) score was no less than 1.5, whereas patients with a ratio of no more than 1.0 were defined with PIGD phenotype, and the rest of patients belonged to the indeterminate phenotype
- aAdjusted for sex and disease duration at entry
- bAdjusted for sex and age at entry
