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

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

Parameters	IVS4 mutation n = 25	Classical Fabry mutations n = 12	P-value
MRI findings
Pulvinar sign, n (%)	8 (32.0)	6 (50.0)	0.4701^a
95% CI	0.15-0.54	0.21-0.79
Infarct, n (%)	8 (32.0)	4 (33.3)	0.6759^b
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)	0.0991^a
Fazekas score, n	25	12	0.7378^a
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	0.3652^a
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)	0.2407^a
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)	0.0293^b
Vascular stenosis/BA hypoplasia, n ^c (%)	2 (8.3)	0	0.5429^a
95% CI	0.01-0.27	0.74-1.00

BA, basilar artery; IVS4, IVS4+919G>A; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging; WM, white matter
^aFisher’s exact test
^bWilcoxon rank-sum test
^cData missing from one IVS4 patient, thus n = 24

ISSN: 1471-2377