Melegnano

This research focuses on rare cerebrovascular diseases (rCVDs) such as CADASIL, Fabry disease, COL4A1 syndrome, Sneddon syndrome, and Moyamoya arteriopathy. These rare conditions contribute to a portion of strokes that often remain undiagnosed due to challenges in recognition by clinicians. The study aims to better understand the clinical features and natural progression of these diseases and to improve diagnosis and care through a large Italian network, addressing the limited knowledge and geographical disparities in expertise across Italy. The study does not specify particular interventions but involves creating a clinical and research network to empower diagnostic pathways for rCVDs. This network will help gather detailed clinical and genetic data from patients diagnosed with these rare conditions, who have undergone at least one brain MRI study. The initiative seeks to enhance diagnostic accuracy, share knowledge, and support appropriate management including genetic counseling. Participants will be monitored for up to 12 months to describe their phenotypic characteristics and observe the natural history of their disease. Evaluations include clinical, genetic, and neuroradiological assessments based on existing diagnoses. The study supports improved patient management through better understanding of disease features and progression, aiming to fill gaps in diagnosis and care, especially for patients in Southern Italy.