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Table 2 Summary of demographic and clinical profiles of cases and controls

From: A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians

Study cohort

Familial participant

Single subject participant

Cases

Japanese

Korean

Japanese

Korean

Chinese

Caucasian

Number of participants

194

5

90

41

23

25

Age (mean ± SD)

39.2 ± 20.6

23.1 ± 12.8

47.7 ± 18.8

38.3 ± 13.4

25.3 ± 13.3

26.4 ± 15.2

Female:male

119:75

3:2

68:22

28:13

14:9

17:8

Number of pedigrees

36

1

0

0

0

Number of patients

109

2

Female:male

76:33

1:1

Family history

0

3

0

0

Characterization of patients

  Age of onset (years)

    <10

29

1

19

0

7

14

    10–20

17

0

8

5

6

0

    20–30

11

0

7

7

4

3

    30–40

16

1

9

9

3

5

    40–50

9

0

25

12

3

2

    50–60

16

0

10

5

0

1

    60+

11

0

8

3

0

0

    Unknown

0

0

4

0

0

0

Young onset (<15)

46

1

25

1

10

14

Adult onset (15≤)

63

1

61

40

13

11

Clinical symptoms

  Cerebral infarction

13

0

8

14

3

11

  TIA

39

1

33

8

1

2

  Hemorrhage

14

0

19

0

3

1

  Unknown stroke

1

1

1

16

6

3

  Seizure

5

0

1

0

0

2

  Headache

9

0

8

2

2

3

  Asymptomatic

23

0

4

0

0

1

  Other

5

0

16

1

8

2

  Total

109

2

90

41

23

25

Clinical symptoms: young onset (<15 years)

  Cerebral infarction

4

0

0

0

1

2

  TIA

29

1

16

0

1

2

  Hemorrhage

0

0

2

0

0

0

  Unknown stroke

1

0

0

1

2

3

  Seizure

4

0

0

0

0

2

  Headache

4

0

5

0

0

3

  Asymptomatic

2

0

0

0

0

1

  Other

2

0

2

0

6

1

  Total

46

1

25

1

10

14

  Female:male

28:18

0:1

22:3

1:0

6:4

9:5

Clinical symptoms: adult onset (≥15 years)

  Cerebral infarction

9

0

8

14

2

9

  TIA

10

0

17

8

0

0

  Hemorrhage

14

0

17

0

3

1

  Unknown stroke

0

1

1

15

4

0

  Seizure

1

0

1

0

0

0

  Headache

5

0

3

2

2

0

  Asymptomatic

21

0

4

0

0

0

  Other

3

0

10

1

2

1

  Total

63

1

61

40

13

11

  Female:male

48:15

1:0

43:18

27:13

8:5

8:3

Controls

Japanese

Korean

Chinese

Caucasian

  

Number of participants

384

223

100

164

  

Age (mean ± SD)

60.8 ± 9.6

40.0 ± 8.4

38.2 ± 10.3

48.0 ± 19.6

  

Female:male

205:179

198:25

100:0

71:93

  

Angiographya

384

46

0

68

  

Screening by angiography (%)

100.0

20.6

0

41.5

  
  1. TIA, Transient ischemic attack; other, including unknown symptoms or other types; SD, standard deviation
  2. aAngiography: conventional angiography, magnetic resonance angiography (MRA), computed tomography (CT), among others