Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and LeukoencephalopathySymptoms, Doctors, Treatments, Advances & More
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Overview
Learn About Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).
Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells.
CADASIL is likely a rare condition; however, its prevalence is unknown.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 gene in each cell is sufficient to cause the disorder.
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 19 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).
Martin Dichgans practices practicing medicine in London, United Kingdom. Mr. Dichgans 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 20 other conditions, according to our data. His clinical expertise encompasses Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Stroke, Dementia, Vascular Dementia, and Thrombectomy.
Summary: K-CADASIL is a 10-year prospective study of 500 Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic brain disease that causes stroke and dementia. The investigators will track symptoms, brain scans, memory tests, and gene information to understand disease progression in Koreans and identify better treatments. Particip...
Summary: Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strok...
Published Date: April 01, 2019
Published By: National Institutes of Health