Overview
CADASIL — which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy — is a rare inherited disease that affects the small blood vessels in the brain and, in some cases, the blood vessels in the retina (the light-sensitive layer at the back of the eye). It is sometimes called hereditary multi-infarct dementia or familial vascular leukoencephalopathy. The disease causes the walls of small blood vessels to thicken and stiffen over time, which reduces blood flow to the brain and retina. This leads to repeated small strokes, damage to the white matter of the brain (the communication pathways), and eventually cognitive decline. The most common symptoms include migraine headaches (often with aura), repeated strokes or stroke-like episodes, mood and psychiatric changes, and a gradual decline in memory and thinking skills. Vision problems can also occur due to involvement of the retinal blood vessels. Symptoms usually begin in mid-adulthood, though the age of onset can vary. There is currently no cure for CADASIL. Treatment focuses on managing symptoms, reducing stroke risk factors, and supporting quality of life. Migraine medications, blood pressure control, and lifestyle changes are the main tools available. Research into disease-modifying therapies is ongoing, giving hope for future treatments.
Key symptoms:
Migraine headaches, often with visual disturbances (aura)Repeated small strokes or stroke-like episodesMemory problems and difficulty concentratingMood changes, depression, or anxietyGradual decline in thinking and reasoning skillsDifficulty walking or problems with balanceBladder control problemsVision changes or vision loss related to retinal blood vessel damagePersonality changesFatigue and reduced energySpeech difficulties after stroke episodesDementia in later stages
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)
Treatments
No FDA-approved treatments are currently listed for Rare central nervous system and retinal vascular disease.
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Specialists
View all specialists →No specialists are currently listed for Rare central nervous system and retinal vascular disease.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 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
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare central nervous system and retinal vascular disease.
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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.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend, and should my family members also be tested?,What does my brain MRI show, and how will you monitor changes over time?,Are there any medications or lifestyle changes that could slow the progression of my disease?,What stroke prevention strategies are right for me, and should I be taking aspirin or other blood thinners?,Are there any clinical trials I might be eligible for?,What symptoms should prompt me to go to the emergency room immediately?,What support services — such as neuropsychology, physical therapy, or counseling — should I be connected with?
Common questions about Rare central nervous system and retinal vascular disease
What is Rare central nervous system and retinal vascular disease?
CADASIL — which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy — is a rare inherited disease that affects the small blood vessels in the brain and, in some cases, the blood vessels in the retina (the light-sensitive layer at the back of the eye). It is sometimes called hereditary multi-infarct dementia or familial vascular leukoencephalopathy. The disease causes the walls of small blood vessels to thicken and stiffen over time, which reduces blood flow to the brain and retina. This leads to repeated small strokes, damage to the white matte
How is Rare central nervous system and retinal vascular disease inherited?
Rare central nervous system and retinal vascular disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rare central nervous system and retinal vascular disease typically begin?
Typical onset of Rare central nervous system and retinal vascular disease is adult. Age of onset can vary across affected individuals.