Table 3 Neurological signs and symptoms in patients with IVS4 or classical Fabry mutations
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 |