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

From: GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

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
  1. 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
  2. aAdjusted for sex and disease duration at entry
  3. bAdjusted for sex and age at entry