Overview
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cause of stroke and vascular dementia in adults. It is caused by pathogenic variants in the NOTCH3 gene located on chromosome 19p13.1, which encodes a transmembrane receptor expressed predominantly in vascular smooth muscle cells. The disease primarily affects the small blood vessels of the brain, leading to progressive damage to the white matter and recurrent subcortical ischemic events. The hallmark clinical features of CADASIL include recurrent ischemic strokes or transient ischemic attacks (TIAs), typically beginning between the ages of 40 and 60, migraine with aura (often the earliest symptom, appearing in the 20s to 30s), progressive cognitive decline leading to vascular dementia, mood disturbances including depression and apathy, and white matter hyperintensities visible on brain MRI. The white matter changes on MRI are often detectable before clinical symptoms appear and characteristically involve the anterior temporal poles and external capsules. Granular osmiophilic material (GOM) deposits in the walls of small arteries are a pathological hallmark of the disease. There is currently no disease-modifying or curative treatment for CADASIL. Management is primarily supportive and focuses on controlling vascular risk factors such as hypertension, diabetes, and smoking. Antiplatelet therapy may be considered for secondary stroke prevention, although its benefit in CADASIL specifically has not been established in clinical trials. Thrombolysis and anticoagulation are generally avoided due to an increased risk of intracerebral hemorrhage. Migraine attacks are managed symptomatically, though triptans are typically avoided due to theoretical vascular risks. Rehabilitation, cognitive support, and psychological care are important components of long-term management. Genetic counseling is recommended for affected individuals and their families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
8 eventsAssistance Publique - Hôpitaux de Paris
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta — NA
National Heart, Lung, and Blood Institute (NHLBI)
Peking University First Hospital — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy.
6 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersPeking University First Hospital
📍 Beijing, Beijing Municipality
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy.
Community
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Start the conversation →Latest news about Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Disease timeline:
New recruiting trial: Neurogenetic And Hemodynamic Of Migraine Aura And Pfo
A new clinical trial is recruiting patients for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
New recruiting trial: Natural History Study of CADASIL
A new clinical trial is recruiting patients for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
New recruiting trial: Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
A new clinical trial is recruiting patients for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
New recruiting trial: AusCADASIL: An Australian Cohort of CADASIL
A new clinical trial is recruiting patients for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
New recruiting trial: MRI Study of Blood-brain Barrier Function in CADASIL
A new clinical trial is recruiting patients for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
New trial: MRI Study of Blood-brain Barrier Function in CADASIL
Phase NA trial recruiting. MRI
New trial: RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare ce
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
What is Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy?
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cause of stroke and vascular dementia in adults. It is caused by pathogenic variants in the NOTCH3 gene located on chromosome 19p13.1, which encodes a transmembrane receptor expressed predominantly in vascular smooth muscle cells. The disease primarily affects the small blood vessels of the brain, leading to progressive damage to the white matter and recurrent subcortical ischemic events. The hallmark clinical features of CADASIL include recurrent ischemic strokes
How is Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy inherited?
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy typically begin?
Typical onset of Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy?
Yes — 6 recruiting clinical trials are currently listed for Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy?
20 specialists and care centers treating Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.