CADASIL: A Review of Pathophysiology, Clinical Presentation, and Management Options

This literature review examines the current understanding of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a rare genetic disorder affecting cerebral small vessels. We explore the disease’s pathophysiology, clinical manifestations, and management strategies, highlighting the role of NOTCH3 gene mutations and potential therapeutic approaches. The review aims to provide a comprehensive overview of CADASIL, shedding light on its complexities and informing future research and clinical practice.