Table 2 Comparison of clinical features in N-PD, GBA1-PD and L483P-PD.

From: Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease

Clinical features

N-PD (N = 3733)

GBA1-PD (N = 301)

L483P-PD (N = 95)

Values

P1

Values

P2

Age (years)

59.56 ± 10.98

55.30 ± 9.79

<0.001

52.32 ± 8.76

<0.001

Age at onset (years)

54.15 ± 11.01

50.00 ± 9.64

<0.001

46.84 ± 8.38

<0.001

Disease duration (years)

5.37 ± 4.39

5.24 ± 4.49

0.404

5.48 ± 5.11

0.12

Sex (male)

1979 (53.01%)

168 (55.81%)

0.528

56 (58.95%)

0.374

Family history

469 (12.56%)

48 (15.95%)

0.144

13 (13.68%)

0.927

UPDRS-I score

2.45 ± 2.04

2.83 ± 2.26

<0.001

2.72 ± 2.41

0.023

UPDRS-II score

11.89 ± 6.52

12.17 ± 6.69

0.001

12.11 ± 6.41

0.012

UPDRS-III score

27.22 ± 14.86

26.60 ± 14.39

0.175

27.41 ± 14.71

0.101

Tremor score

3.76 ± 3.64

2.75 ± 3.10

<0.001

2.65 ± 3.06

0.008

Rigidity score

5.49 ± 4.15

5.93 ± 4.37

0.012

6.49 ± 4.40

0.026

Bradykinesia score

10.07 ± 6.36

9.99 ± 5.97

0.186

10.13 ± 6.09

0.171

Postural instability score

4.16 ± 3.03

4.07 ± 2.91

0.226

4.06 ± 2.95

0.203

Hoehn and Yahr Scale

1.98 ± 0.76

2.12 ± 0.76

<0.001

2.16 ± 0.75

<0.001

Hoehn and Yahr stage

  

0.001

 

<0.001

 1–1.5

1161 (31.09%)

78 (25.91%)

 

22 (23.16%)

 

 2–2.5

1602 (42.92%)

148 (49.17%)

 

47 (49.47%)

 

 3–5

970 (25.99%)

75 (24.92%)

 

26 (27.37%)

 

Motor subtype

     

 TD

950 (25.44%)

45 (14.86%)

 

16 (16.84%)

 

 Indeterminate

642 (17.20%)

46 (15.20%)

0.071

15 (15.79%)

0.344

 PIGD

2141 (57.36%)

210 (69.93%)

<0.001

64 (67.37%)

0.003

 MMSE score

26.35 ± 3.90

26.19 ± 4.01

0.004

26.27 ± 4.51

0.03

 PDSS score

115.53 ± 28.06

115.93 ± 26.16

0.354

116.14 ± 27.54

0.495

 ESS score

7.78 ± 6.30

7.68 ± 6.37

0.27

7.62 ± 6.66

0.368

 EDS

1109 (34.22%)

87 (33.72%)

0.244

28 (36.36%)

0.119

 RBDQ total score

16.11 ± 16.57

20.50 ± 18.99

<0.001

19.96 ± 19.57

0.002

 pRBD

1163 (32.48%)

117 (42.31%)

<0.001

30 (38.96%)

0.016

 HAMD score

5.81 ± 5.51

6.37 ± 5.69

0.048

6.13 ± 6.59

0.432

 Depression

980 (30.39%)

97 (37.89%)

0.006

23 (30.26%)

0.93

 HRS score

19.55 ± 6.54

18.19 ± 6.44

<0.001

18.58 ± 6.25

0.029

 Olfactory dysfunction

1330 (40.95%)

146 (54.48%)

<0.001

44 (51.76%)

0.002

 PDQ39 score

29.50 ± 25.69

30.28 ± 25.59

0.068

26.23 ± 23.68

0.791

 Constipation

1207 (38.32%)

111 (44.22%)

<0.001

30 (37.04%)

0.096

 Dyskinesia

433 (11.59%)

49 (16.04%)

0.053

17 (18.09%)

0.324

 Freezing gait

903 (24.18%)

86 (28.67%)

0.048

27 (28.42%)

0.119

 LEDD (mg)

402.59 ± 285.39

439.48 ± 230.76

0.036

476.08 ± 252.23

0.027

  1. Values are expressed as mean ± standard deviation, or number (%).
  2. PD Parkinson’s disease, N-PD patients without GBA1 variants, GBA1-PD patients with GBA1 variants, L483P-PD patients with p.L483P variant. UPDRS Unified Parkinson’s disease Rating Scale, TD tremor-dominant, PIGD postural instability and gait difficulty, MMSE Mini-Mental State Examination, PDSS Parkinson’s Disease Sleep Scale, ESS Epworth Sleepiness Scale, EDS excessive daytime sleepiness, RBDQ Rapid-eye-movement Sleep Behavior Disorder Questionnaire, pRBD probable rapid-eye-movement sleep behavior disorder, HAMD Hamilton Depression Scale, HRS Hyposmia Rating Scale, PDQ-39 Parkinson Disease Quality of Life Questionnaire-39 item version, LEDD levodopa equivalent daily dose. The scores of UPDRS items 20 and 21 added up to the tremor score. The score for item 22 was the rigidity score. The scores for items 23 to 26 added up to the bradykinesia score. The scores for items 27–30 added up to the postural instability score. Disease motor subtype was classified as tremor-dominant (TD) phenotype when the ratio of tremor score and postural instability and gait difficulty (PIGD) score was no less than 1.5, while patients with a ratio of no more than 1.0 were defined to PIGD phenotype and rest of patients belonged to the indeterminate phenotype.
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