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 TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.
Summary: This is an observational study to better understand the risk factors and progression of CADASIL, a leading cause of vascular cognitive impairment and dementia (VCID). 575 participants will be enrolled and can expect to be on study for up to 5 years.
Published Date: April 01, 2019
Published By: National Institutes of Health