A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease

This study reports on a new CARASIL family with two consanguineous patients who have the homozygous c.235C>T (p.Q79*) mutation in the HTRA1 gene. Despite sharing the same genetic mutation, the patients exhibited different clinical symptoms and neuroimaging results. Notably, one patient experienced epileptic seizures and multiple recurrent lobar hemorrhages, a novel characteristic not previously associated with CARASIL. This finding suggests variability in clinical manifestations even among patients with identical mutations, highlighting the complexity of genotype-phenotype correlations in CARASIL.