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Table 2 Fabry diagnosis in the different cerebrovascular diseases

From: Exploratory screening for Fabry’s disease in young adults with cerebrovascular disorders in northern Sardinia

 

Our study

Rolfs 2005

Brouns 2007

Brouns 2010

Wozniak 2010

Baptista 2010

Sarikaya 2012

Marquardt 2012

Dubuc 2012

Rolfs 2013

Sample size

178

721

103

1000

558

493

150

1046

100

5023g

IS

107 (60,1 %)

721 (100 %)

57 (55,3 %)

573 (57.3 %)

1°stroke 558(100 %)

364(73,8 %)

135(90 %)

572(54,6 %) 4a

100(100 %)

3291(65,51 %)

Atherothrombotic

11(10,3 %)

0

0

143 (25,1 %)

NR

55(15,1 %)

0

NR

/

613(18,6 %)

Cardioembolic

11(10,3 %)

0

0

125 (21,9 %)

NR

80 (21,9 %)

0

NR

/

549 (16,7 %)

1d; 1a

Lacunar

17(15,8 %)

0

0

99 (17,4 %)

NR

98 (26,9 %)

0

NR

13(13 %)

443 (13,5 %)

1d; 1a

Other determined

6(5,6 %)

0

0

69 (12,1 %)

NR

27(7,4 %)

0

NR

/

585 (17,8 %)

2c

1d

Undetermined

62(57,9 %)

721

57(100 %)

134 (23,5 %)

154 (28 %\)

104(28,5 %)

135 (100 %)

NR

/

1100 (33,4 %)

1a

32f

 

1e

 

1d; 3a

    

TIA

30(16,8 %)

NR

28(27,1 %)

220(22 %)

/

NR

15 (10 %)

474(45,3 %)

/

1071 (22,3 %)

   

3a

   

1a

  

ICH

8(4,5 %)

NR

18(17,4 %)

49 (4,9 %)

/

115(23,3 %)

/

/

/

ICH 271(5,6 %)

     

1d; 1a

   

CVT/SAH 68 (1,4 %)

CVT

3(1,6 %)

/

/

/

/

14(2,8 %)

/

/

/

1d

WMLs

30(16,8 %)

/

/

153(15,3 %)

/

76(15,4 %)

/

/

/

/

1b

  

2a

 

1d; 2a

    
  1. Abbreviations: IS ischemic stroke, TIA transient ischemic attack, ICH intracerebral haemorrhage, SAH subarachnoid haemorrhage, CVT cerebral venous thrombosis, WMLs white matter lesions, NR not reported, aD313Y; bR227Q; cA143T; dR118C; eS126G; fmutations NR; gmutations found [R118C, V315I, S126G (3×), A143T (4×), D83N, L415F, S102L, E418G]; /, not available