Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and LeukoencephalopathySymptoms, Doctors, Treatments, Advances & More
Learn About Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is a condition that causes neurological problems. The signs and symptoms of CADASIL include:
Genetic changes that cause disease are called pathogenic variants. CADASIL is typically caused by pathogenic variants in the NOTCH3 gene. The NOTCH3 gene provides instructions for producing a receptor protein that is important for the normal function of cells called vascular smooth muscle cells, the most common type of cell in most blood vessels. These muscle cells help regulate blood flow by allowing blood vessels to expand and contract. When certain molecules bind to NOTCH3 receptors, the receptors send signals to the nuclei of vascular smooth muscle cells. These signals activate particular genes within these cells.
CADASIL affects at least 2 to 4 in 100,000 people. Researchers now believe that CADASIL may be more common than previously thought.
As the name implies, CADASIL is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell may be sufficient to cause the disorder. However, the specific signs and symptoms of CADASIL can vary widely among affected individuals. This situation is known as variable expressivity.
Raffaella Valenti practices practicing medicine in Prato, Italy. Ms. Valenti is rated as an Elite expert by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Stroke, CACH Syndrome, Cerebral Amyloid Angiopathy, and Thrombectomy.
Hugues Chabriat practices practicing medicine in Paris, France. Mr. Chabriat is rated as an Elite expert by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CACH Syndrome, Stroke, and Cerebral Cavernous Malformation.
Toshiki Mizuno practices practicing medicine in Kyoto, Japan. Mr. Mizuno is rated as an Elite expert by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CACH Syndrome, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).
Summary: The study is divided into two phases: Phase 1 (observational) and Phase 2 (dietary intervention). The goal of Phase 1 is to assess the nutritional status and dietary habits of two cohorts of patients with CADASIL and CAA. A specific aim is to evaluate adherence to the Mediterranean Diet. The objectives include analyzing patients' nutritional status, lean and fat mass, basal metabolism, and total e...
Summary: The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers \- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.
Published Date: October 06, 2026
Published By: National Institutes of Health