MR imaging markers in TREX1 MCs at baselinea
| MR Imaging Markers | All (n = 29) | Younger than 40 Years (n = 11) | 40 Years or Older (n = 18) |
|---|---|---|---|
| WMLs (mL), median (IQR) | 0.97 (0.2–3.9) | 0.19 (0.08–0.3) | 2.66 (1.0–7.7) |
| Deep WMLs | |||
| Absent | 8 (28) | 6 (55) | 2 (11) |
| Punctate lesions | 18 (62) | 5 (45) | 13 (72) |
| Beginning confluence | 2 (7) | 0 | 2 (11) |
| Large confluent areas | 1 (3) | 0 | 1 (6) |
| Periventricular WMLs | |||
| Absent | 19 (66) | 9 (82) | 10 (55) |
| Caps and bands | 2 (7) | 2 (18) | 0 |
| Smooth halo | 5 (17) | 0 | 5 (28) |
| Irregular extending in DWM | 3 (10) | 0 | 3 (17) |
| Enlarged perivascular spaces | |||
| None | 12 (41) | 4 (36) | 8 (44) |
| Mild | 14 (48) | 6 (55) | 8 (44) |
| Moderate | 2 (7) | 0 | 2 (11) |
| Frequent | 1 (3) | 1 (9) | 0 |
| Central atrophy | |||
| None | 24 (83) | 11 (100) | 13 (72) |
| Moderate | 5 (17) | 0 | 5 (28) |
| Severe | 0 | 0 | 0 |
| Cortical atrophy | |||
| None | 27 (93) | 11 (100) | 16 (89) |
| Moderate | 2 (7) | 0 | 2 (11) |
| Severe | 0 | 0 | 0 |
| Lacunar infarcts | 1 (3) | 0 | 1 (6) |
Note:—IQR indicates interquartile range; DWM, deep white matter.
↵a Data are No. (%) unless otherwise specified.