Table 1 Cohort demographics

From: Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level

 

Whole Cohort

GBA1/LRRK2 Negativeb

GBA1 Carriers

p

LRRK2 Carriers

p

N (%)

1689

1483

159c

 

44c

 

Variant, n (%)

 GBA1 Risk

  

94 (59)

   

 GBA1 Mild

  

42 (26)

   

 GBA1 Severe

  

23 (14)

   

 LRRK2 G2019S

    

41 (93)d

 

Sex, n (%)a

 Female

608 (36)

517 (35)

67 (42)

0.081

23 (51)

0.048

 Male

1080 (64)

965 (65)

92 (58)

 

21 (49)

 

Ethnicity, n (%)

 Hispanic or Latino

34 (2)

31 (2)

2 (1)

nt

1 (2)

nt

 Not Hispanic or Latino

1654 (98)

1451 (98)

157 (99)

 

43 (98)

 

 Unknown or not reported

1 (<1)

1 (<1)

0 (0)

 

0 (0)

 

Race, n (%)

 White

1532 (91)

1334 (90)

155 (98)

nt

40 (91)

nt

 Black or African American

78 (5)

76 (5)

2 (1)

 

0 (0)

 

 Am Indian/Alaska Native

1 (<1)

1 (<1)

0 (0)

 

0 (0)

 

 Asian

56 (3)

54 (4)

0 (0)

 

2 (4)

 

 More than one race

9 (<1)

6 (<1)

2 (1)

 

1 (2)

 

 Other

5 (<1)

4 (<1)

0 (0)

 

1 (2)

 

 Unknown or not reported

8 (<1)

8 (1)

0 (0)

 

0 (0)

 

Age, mean (SD)

 At diagnosis

62 (11)

62 (11)

61 (10)

0.215

61 (11)

0.347

 At enrollment

69 (9)

69 (9)

67 (9)

0.049

70 (9)

0.683

Clinical Presentation at Onset

 Tremor

865 (51)

764 (52)

77 (49)

0.482

22 (50)

0.482

 Gait Disorder

191 (11)

170 (11)

18 (11)

 

2 (5)

 

 Mixed

120 (7)

101 (7)

16 (10)

 

3 (7)

 

 Neither

513 (31)

448 (30)

48 (30)

 

17 (38)

 

1st Degree Family History

 None

1401 (83)

1241 (84)

128 (80)

0.225

30 (68)

0.002

 PD

155 (9)

122 (8)

20 (13)

 

12 (27)

 

 Other NDD

108 (6)

99 (7)

8 (5)

 

1 (2)

 

 Both

25 (2)

21 (1)

3 (2)

 

1 (2)

 
  1. GBA1 (N = 3) and LRRK2 (N = 2) homozygotes and 1 individual carrying two different variants in GBA1 were included.
  2. a1 missing/unreported. Nt not tested.
  3. bIncludes 28 cases without DNA available. Box indicates corrected p < 0.05 relative to GBA1/LRRK2 Negative group. P values after Benjamini-Hochberg multiple testing correction are reported.
  4. cThree individuals carried variants in both GBA1 and LRRK2 (all were GBA1 N409S/LRRK2 G2019S) and are excluded. NDD neurodegenerative disease.
  5. d3 LRRK2 G2385R carriers were identified (6% of LRRK2 carriers).
  6. Significant differences among groups are indicated in bold type.