Potential mechanistic role for APOE ε2 in small vessel disease


  • Cortical superficial siderosis (cSS) is most strongly associated with the APOE ε2 genotype, indicating that APOE ε2 may have a pathophysiological role in cerebral amyloid angiopathy (CAA)-related small vessel disease.

Why this matters ?

  • cSS (characterized by hyperintensities on MRI thought to represent deposits of blood breakdown products) is associated with CAA (small vessel disease resulting from β-amyloid deposition) and subsequent increased risk of intracerebral hemorrhage (ICH) and dementia. Evidence indicates that APOE genotype may underly cSS presence and pathogenesis in CAA; understanding the pathological mechanisms more fully may help identify individuals at risk and drive treatment development.