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Table 2 MRI and MRA findings in patients with IVS4 versus classical Fabry mutations

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

Parameters IVS4 mutation n = 25 Classical Fabry mutations n = 12 P-value
MRI findings    
 Pulvinar sign, n (%) 8 (32.0) 6 (50.0) 0.4701a
  95% CI 0.15-0.54 0.21-0.79  
 Infarct, n (%) 8 (32.0) 4 (33.3) 0.6759b
  95% CI 0.15-0.54 0.10-0.65  
  Anterior circulation stroke 2 (8.0) 2 (16.7)  
  Posterior circulation stroke 2 (8.0) 0  
  Both anterior and posterior circulation stroke 4 (16.0) 2 (16.7)  
  None of them 17 (68.0) 8 (66.7)  
 Hemorrhage (microbleeds), n (%) 0 2 (16.7) 0.0991a
 Fazekas score, n 25 12 0.7378a
  0: No or a single punctate WM lesion 15 (60.0) 6 (50.0)  
  1: Multiple punctate WM lesions 7 (28.0) 4 (33.3)  
  2: Beginning of lesion confluence 2 (8.0) 2 (16.7)  
  3: Large confluent lesion 1 (4.0) 0  
 Height bifurcation of the BA, n 25 12 0.4276*
  0: At or below the dorsum sellae 6 (24.0) 2 (16.7)  
  1: Within the suprasellar cistern 9 (36.0) 3 (25.0)  
  2: At the third ventricle floor 10 (40.0) 6 (50.0)  
  3: Indenting and elevating the third ventricle floor 0 1 (8.3)  
  Abnormal height bifurcation 10 (40.0) 7 (58.3)  
 Laterality of the BA, n 25 12 0.3652a
  0: Midline throughout 12 (48.0) 4 (33.3)  
  1: Medial to lateral margins of clivus or dorsum sellae 12 (48.0) 6 (50.0)  
  2: Lateral to lateral margins of clivus or dorsum sellae 1 (4.0) 2 (16.7)  
  3: In the cerebellopontine angle cistern 0 0  
 Abnormal laterality 1 (4.0) 2 (16.7) 0.2407a
 95% CI 0.00-0.20 0.02-0.48  
MRA findings    
 BA diameter, mm    
  Mean (SD) 2.7 (0.6) 3.3 (0.7)  
  95% CI 2.5-3.0 2.9-3.8  
  Median (range) 2.7 (1.4-4.0) 3.2 (2.3-4.7) 0.0293b
 Vascular stenosis/BA hypoplasia, n c (%) 2 (8.3) 0 0.5429a
  95% CI 0.01-0.27 0.74-1.00  
  1. BA, basilar artery; IVS4, IVS4+919G>A; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging; WM, white matter
  2. aFisher’s exact test
  3. bWilcoxon rank-sum test
  4. cData missing from one IVS4 patient, thus n = 24