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.
The Weston Group Inc
Liam Fry is a Geriatrics specialist and a Palliative Medicine provider in Austin, Texas. Dr. Fry and is rated as an Advanced provider by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Her top areas of expertise are Dementia, Painful Swallowing, Swallowing Difficulty, and Vascular Dementia. Dr. Fry is currently accepting new patients.
Austin Geriatric Specialists PLLC
Michael Krol is a Geriatrics specialist and an Internal Medicine provider in Austin, Texas. Dr. Krol and is rated as an Experienced provider by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. His top areas of expertise are Dementia, Contracture Deformity, Cerebral Palsy, and Swallowing Difficulty. Dr. Krol is currently accepting new patients.
St. David's Ortho Neuro And Rehab PLLC
Omar Kass-Hout is a Neurologist in Austin, Texas. Dr. Kass-Hout and is rated as an Experienced provider by MediFind in the treatment of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. His top areas of expertise are Stroke, Brain Aneurysm, Subarachnoid Hemorrhage, Thrombectomy, and Stent Placement. Dr. Kass-Hout is currently accepting new patients.
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia. Researchers want to monitor people with CADASIL over time.
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.
Published Date: April 01, 2019
Published By: National Institutes of Health