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 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. His top areas of expertise are Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CACH Syndrome, Stroke, and Cerebral Cavernous Malformation.
Toshiki Mizuno practices 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. His top areas of expertise are 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 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. His top areas of expertise are Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Stroke, Dementia, Vascular Dementia, and Thrombectomy.
Summary: The purpose of this study is to create a state-wide biorepository and resource center for cerebrovascular diseases in Florida, which will include collecting medical history information and blood from subjects affected by cerebrovascular disease. The information and blood samples collected may be used in future research for the study of cerebrovascular disease and to learn about, prevent or treat o...
Summary: Cerebral small vessel disease (SVD), present in 80-94% of adults over age 65 years, increases the risk of stroke by 2-fold, and dementia by 2.3-fold. There is currently no treatment to slow SVD progression. This study aims to test whether impaired cerebral and retinal vasoreactivity may serve as biomarker for SVD progression, and to evaluate the safety and efficacy of cilostazol (antiplatelet agen...
Published Date: April 01, 2019
Published By: National Institutes of Health