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.
Raffaella Valenti practices 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. Her top areas of expertise are Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Stroke, CACH Syndrome, Cerebral Amyloid Angiopathy, and Thrombectomy.
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).
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...
Summary: This study is being done in order to create a registry (list) of people interested in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) research. It may be that you have a family member or other loved one with CADASIL, or that you may have CADASIL or are at risk. Participation means that your name will be added to a list of people who will be invi...
Published Date: April 01, 2019
Published By: National Institutes of Health