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Table 1 Demographic characteristics of Taiwanese patients with MRI data registered in FOS as of March 2014

From: A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

Characteristic IVS4 mutation n = 25 Classical Fabry mutations n = 12 P-value
Sex, n (%)    
 Male 19 (76.0) 4 (33.0) 0.0274a
 95% CI 0.55-0.91 0.10-0.65  
 Female 6 (24.0) 8 (67.0)  
Age at symptom onset, yearsc    
 Mean (SD) 50.3 (7.8) 9.5 (2.0)  
 95% CI 46.2-54.5 8.1-10.9  
 Median (range) 48.0 (38.0-65.0) 10.0 (6.0-12.0) <0.0001b
Age at diagnosis, years    
 Mean (SD) 57.6 (6.9) 39.8 (14.5)  
 95% CI 54.7-60.4 30.6-49.1  
 Median (range) 59.0 (42.0-67.0) 40.0 14.0-60.0) 0.0001b
Age at FOS entry, years    
 Mean (SD) 59.7 (6.7) 42.4 (14.1)  
 95% CI 56.9-62.5 33.4-51.4  
 Median (range) 60.3 (44.8-69.7) 43.3 (17.4-61.2) <0.0001b
Received ERT, n    
 Yes 25 12 NA
 95% CI 0.86-1.00 0.74-1.00  
Age at treatment start, years    
 Mean (SD) 58.6 (6.8) 40.9 (14.5)  
 95% CI 55.8-61.5 31.7-50.1  
 Median (range) 59.7 (44.1-68.3) 40.9 (14.9-61.3) 0.0001b
MRI after treatment initiation, n (%)    
 Yes 25 (100.0) 10 (83.3) 0.0991a
 95% CI 0.86-1.00 0.52-0.98  
Age at MRI assessment, years    
 Mean (SD) 60.0 (6.8) 42.6 (14.3)  
 95% CI 57.2-62.8 33.6-51.7  
 Median (range) 60.7 (45.0-70.4) 43.0 (18.0-61.4) 0.0001b
  1. ERT, enzyme replacement therapy; FOS, Fabry Outcome Survey; IVS4, IVS4+919G>A; MRI, magnetic resonance imaging; NA, not available
  2. aFisher’s exact test
  3. bWilcoxon rank-sum test
  4. cData missing from 9 IVS4 (n = 16) and 2 classical FD (n = 10) patients