General Neurology
Lumbar disc disease
Jan. 15, 2023
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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What is CADASIL?
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. CADASIL is characterized by migraine headaches and multiple strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL — formerly known by several names, including hereditary multi-infarct dementia — is one cause of vascular cognitive impairment (dementia caused by lack of blood to several areas of the brain). It is an autosomal dominant inheritance disorder, meaning that one parent carries and passes on the defective gene. Most individuals with CADASIL have a family history of the disorder. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.
Is there any treatment?
There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. Other stroke risk factors such as hypertension, hyperlipidemia, diabetes, blood clotting disorders and obstructive sleep apnea also should be aggressively treated.
What is the prognosis?
Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have severe cognitive problems and dementia. Some people lose the ability to walk and most become completely dependent due to multiple strokes.
Clinical trials
Select this link to view a list of studies currently seeking patients.
Patient Organizations
United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL 60115
https://www.ulf.org
800-728-5483, 815-895-3211
cureCADASIL Association
10 Schalks Crossing Rd, Ste 501A-133
Plainsboro, NJ 08536
https://www.cadasilassociation.org
307-215-9840
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
https://www.americanheart.org
800-AHA-USA1 (242-8721)
This information was developed by the National Institute of Neurological Disorders and Stroke, National Institute of Health.
National Institute of Neurological Disorders and Stroke. NINDS CADASIL Information Page. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/CADASIL-Information-Page. Accessed February 21, 2017.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink Corporation, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125