CADASIL AND CARASIL: A MUTATED HEREDITARY LEUKOENCEPHALOPATHY – NEW FINDINGS

Aim: To explore recent discoveries related to CADASIL and CARASIL, rare hereditary cerebral small vessel diseases caused by mutations, and to assess their implications for diagnosis, management, and understanding of leukoencephalopathy. Background: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) and CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) are genetic disorders primarily affecting the brain’s small blood vessels. CADASIL results from NOTCH3 mutations, while CARASIL stems from HTRA1 mutations. Both conditions exhibit progressive neurological symptoms, including recurrent strokes, cognitive decline, and mood disturbances. Despite their similarities, CARASIL typically presents earlier and progresses faster. Limited understanding of their pathophysiology has historically impeded timely diagnosis and therapeutic advancements.