Overview
HTRA1-related autosomal dominant cerebral small vessel disease (also sometimes called HTRA1-AD CSVD) is a rare inherited condition that affects the small blood vessels in the brain. It is caused by a change (mutation) in one copy of the HTRA1 gene. This gene normally helps produce a protein that keeps blood vessels healthy. When the gene does not work properly, the walls of tiny blood vessels in the brain become damaged over time, reducing blood flow to brain tissue. The disease mainly affects adults, typically becoming noticeable in midlife. The most common symptoms include strokes or mini-strokes (TIAs), problems with thinking and memory, difficulty walking, and mood or personality changes. Over time, many people develop a condition called vascular dementia, where thinking skills gradually decline due to repeated small strokes or reduced blood flow. White matter changes — areas of damage seen on brain MRI scans — are a hallmark of this disease. There is currently no cure for HTRA1-related cerebral small vessel disease. Treatment focuses on reducing stroke risk by controlling blood pressure, avoiding smoking, and using blood-thinning or antiplatelet medications when appropriate. Rehabilitation therapies such as physiotherapy, speech therapy, and cognitive support can help manage symptoms and maintain quality of life. Research into targeted therapies is ongoing, giving hope for better treatments in the future.
Also known as:
Key symptoms:
Stroke or mini-stroke (TIA)Memory loss and difficulty thinking clearlyTrouble walking or balance problemsMood changes, depression, or personality shiftsHeadaches, sometimes severeWeakness or numbness on one side of the bodySlurred speech or difficulty finding wordsUrinary incontinenceFatigue and reduced energyGradual decline in daily functioning
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 HTRA1-related autosomal dominant cerebral small vessel disease.
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Specialists
View all specialists →No specialists are currently listed for HTRA1-related autosomal dominant cerebral small vessel 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 HTRA1-related autosomal dominant cerebral small vessel disease.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 does my genetic test result mean for my health and my family members' risk?,Should my children or siblings be tested for the HTRA1 mutation?,What is the best way to control my blood pressure to reduce stroke risk?,Are there any clinical trials I could join for this condition?,What signs should prompt me to go to the emergency room immediately?,What rehabilitation services are available to help me maintain my independence?,How often should I have brain MRI scans to monitor the disease?
Common questions about HTRA1-related autosomal dominant cerebral small vessel disease
What is HTRA1-related autosomal dominant cerebral small vessel disease?
HTRA1-related autosomal dominant cerebral small vessel disease (also sometimes called HTRA1-AD CSVD) is a rare inherited condition that affects the small blood vessels in the brain. It is caused by a change (mutation) in one copy of the HTRA1 gene. This gene normally helps produce a protein that keeps blood vessels healthy. When the gene does not work properly, the walls of tiny blood vessels in the brain become damaged over time, reducing blood flow to brain tissue. The disease mainly affects adults, typically becoming noticeable in midlife. The most common symptoms include strokes or mini-s
How is HTRA1-related autosomal dominant cerebral small vessel disease inherited?
HTRA1-related autosomal dominant cerebral small vessel disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HTRA1-related autosomal dominant cerebral small vessel disease typically begin?
Typical onset of HTRA1-related autosomal dominant cerebral small vessel disease is adult. Age of onset can vary across affected individuals.