Table 3

Neuroradiological features of the patients harbouring GGC repeat expansion in NOTCH2NLC

PatientThe Fazekas score of WMHLICMBEPSBA
PeriventricularDeep
122+NA++
231++
332+++
421++
522++
621NA
721+NA+
821+++
921+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.