CADASIL: An overview of a rare cerebrovascular disease

The Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) it’s a genetic disorder that affects the small blood vessels in the brain for a pathological variant in the NOTCH3 gene, located on chromosome 19. It is of great interest to know its correct diagnosis based on expression and variable clinical symptomatology due to episodes of migraine, dementia, cerebral ischemic episodes, psychiatric disorders and motor difficulties. Factors involved in the differential diagnosis of this genetic disorder will be discussed, based on general international criteria like Neuroimaging Findings and Genetic Testing. In addition, its clinical manifestations will be analyzed in various patient contexts to identify specific features related to individual genetic variations.