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Table 3 Neurological signs and symptoms in patients with IVS4 or 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

Neurological sign or symptom, n (%) IVS4 mutation n = 25 Classical Fabry mutations n = 12 Odds ratio (exact 95% CI); P-value No MRI evidence of infarction MRI evidence of infarction
IVS4 mutation n = 17 Classical Fabry mutations n = 8 IVS4 mutation n = 8 Classical Fabry mutations n = 4
Any neurological manifestation 14 (56.0) 6 (50.0) 1.27 (0.26-6.28); 1.0000 8 (47.1) 4 (50.0) 6 (75.0) 2 (50.0)
Stroke/minor stroke 1 (4.0) 1 (8.3) 0.46 (0.01-39.22); 1.0000 0 0 1 (12.5) 1 (25.0)
Numbness/weakness 3 (12.0) 3 (25.0) 0.41 (0.05-3.74); 0.3666 1 (5.9) 1 (12.5) 2 (25.0) 2 (50.0)
Asymmetric face 1 (4.0) 0 (0.03-NA); 1.0000 0 0 1 (12.5) 0
Dysarthria 0 1 (8.3) (0.03-NA); 0.3243 0 0 0 1 (25.0)
Blurred vision/diplopia 1 (4.0) 0 (0.03-NA); 1.0000 0 0 1 (12.5) 0
Depression 1 (4.0) 0 (0.03-NA); 1.0000 1 (5.9) 0 0 0
Emotional change 2 (8.0) 3 (25.0) 0.26 (0.02-2.79); 0.3035 0 3 (37.5) 2 (25.0) 0
Personality change 1 (4.0) 0 (0.03-NA); 1.0000 0 0 1 (12.5) 0
Forgetfulness 6 (24.0) 1 (8.3) 3.47 (0.34-174.06); 0.3891 2 (11.8) 1 (12.5) 4 (50.0) 0
Tinnitus 3 (12.0) 1 (8.3) 1.50 (0.10-85.80); 1.0000 2 (11.8) 1 (12.5) 1 (12.5) 0
Vertigo 5 (20.0) 0 (0.62-NA); 0.1521 4 (23.5) 0 1 (12.5) 0
  1. IVS4, IVS4+919G>A; MRI, magnetic resonance imaging; NA, not available