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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