Distinct Radiological Features of COL4A1/COL4A2 Variants 🧬

This research focuses on cerebral small vessel diseases, emphasising hereditary conditions like CADASIL and COL4A1/COL4A2 variants. It examines genetic and radiological differences, exploring white matter hyperintensities and microbleeds as distinguishing features. The study proposes hypotheses on MRI patterns and genotype-phenotype correlations, aiming to refine diagnostic imaging and management strategies. By analysing haemorrhagic vs ischemic traits and systemic vs CNS involvement, it...