Neuroradiological features of the patients harbouring GGC repeat expansion in NOTCH2NLC
Patient | The Fazekas score of WMH | LI | CMB | EPS | BA | |
Periventricular | Deep | |||||
1 | 2 | 2 | + | NA | + | + |
2 | 3 | 1 | – | + | – | + |
3 | 3 | 2 | + | + | + | – |
4 | 2 | 1 | + | – | + | – |
5 | 2 | 2 | + | + | – | – |
6 | 2 | 1 | – | NA | – | – |
7 | 2 | 1 | + | NA | + | – |
8 | 2 | 1 | + | + | + | – |
9 | 2 | 1 | + | NA | – | – |
‘+’ indicates present and ‘−’ indicates absent.
BA, brain atrophy; CMB, cerebral microbleeds; EPS, enlarged perivascular spaces; LI, lacunar infarcts; NA, not available; WMH, white matter hyperintensity.