Patient characteristics and WML scores
| All | Men | Women | |
|---|---|---|---|
| Patient characteristics | |||
| No. of patients (%) | 48 | 25 (52%) | 23 (48%) |
| Classic phenotype (No.) (%) | 48 (100%) | 25 (100%) | 23 (100%) |
| No. of scan data sets (No.) | 229 | 117 | 112 |
| Age at first MR imaging (median) (range) (yr) | 44 (15–69) | 31 (15–55) | 46 (22–69) |
| Patients <18 yr (No.) (%) | 2 (4.2%) | 2 (8.0%) | 0 (0.0%) |
| Ever ERT (No.) (%) | 48 (100%) | 25 (100%) | 23 (100%) |
| Months treated (mean) | 89 (SD, 34) | 92 (SD, 39) | 86 (SD, 30) |
| Events before first MR imaging | |||
| Cerebrovascular event (No.) (%) | 2 (4.2%) | 1 (4.0%) | 1 (4.3%) |
| TIA (No.) (%) | 1 (2.1%) | 1 (4.0%) | 0 (0.0%) |
| Kidney function at first MR imaging | |||
| eGFR in mL/min/1.73 m2 (median) (range) | 101 (40–154) | 105 (49–154) | 100 (40–127) |
| eGFR <60 mL/min/1.73 m2 (No.) (%) | 5 (10.4%) | 3 (12%) | 2 (8.7%) |
| WML scores | |||
| Fazekas first MR imaging (median) (range) | 1 (0–6) | 0 (0–6) | 1 (0–6) |
| Fazekas first MR imaging (mean) | 1.5 (SD, 1.7) | 1.4 (SD, 2.0) | 1.5 (SD, 1.3) |
| Fazekas > 0 first MR imaging (No.) (%) | 29 (60%) | 11 (44%) | 18 (78%) |
| Fazekas last MR imaging (median) (range)a | 1 (0–6) | 1 (0–6) | 1 (0–6) |
| Fazekas last MR imaging (mean) | 1.5 (SD, 1.6) | 1.6 (SD, 1.9) | 1.4 (SD, 1.3) |
| Fazekas > 0 last MR imaging (No.) (%) | 33 (69%) | 15 (60%) | 18 (78%) |
Note:—eGFR indicates estimated glomerular filtration rate.
↵a For 32 patients, additional MR imaging after Fazekas scoring was performed. For these patients, the last known Fazekas score was used.