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.