Overview
HTRA1-related cerebral small vessel disease is a rare inherited condition that affects the small blood vessels in the brain. It is caused by changes (mutations) in the HTRA1 gene, which provides instructions for making a protein that helps maintain healthy blood vessels. When this protein does not work properly, the walls of tiny blood vessels in the brain become damaged over time, reducing blood flow to brain tissue. This disease is also sometimes called HTRA1-related cerebral arteriopathy or, in its autosomal recessive form, CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). The autosomal dominant form is sometimes referred to as HTRA1-dominant cerebral small vessel disease. The disease mainly affects the brain, causing a range of neurological symptoms. People with this condition often experience strokes or stroke-like episodes, problems with thinking and memory, difficulty walking, and mood or personality changes. Over time, these symptoms tend to worsen, leading to significant disability. Some people also develop non-brain symptoms such as back pain and hair loss, particularly in the recessive form. There is currently no cure for HTRA1-related cerebral small vessel disease. Treatment focuses on managing symptoms, reducing stroke risk factors such as high blood pressure, and supporting quality of life through rehabilitation therapies. Research into this condition is ongoing, and understanding the genetic cause can help families plan and access appropriate care.
Also known as:
Key symptoms:
Stroke or mini-stroke (TIA) at a relatively young ageMemory problems and difficulty thinking clearlySlow or unsteady walking, balance problemsMood changes, depression, or personality changesGradual loss of independence in daily activitiesUrinary incontinence (loss of bladder control)Stiffness or weakness in the legsSevere low back pain (especially in the recessive form)Hair loss (alopecia), particularly in the recessive formSlurred speechDifficulty swallowingHeadachesWhite matter changes seen on brain MRI scans
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for HTRA1-related cerebral small vessel disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for HTRA1-related cerebral small vessel disease at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for HTRA1-related 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 cerebral small vessel disease.
Community
No community posts yet. Be the first to share your experience with HTRA1-related cerebral small vessel disease.
Start the conversation →Latest news about HTRA1-related cerebral small vessel disease
No recent news articles for HTRA1-related cerebral small vessel disease.
Follow this condition to be notified when news becomes available.
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.Which form of HTRA1-related disease do I have — the dominant or recessive form — and what does that mean for my outlook?,Should my family members be tested for the HTRA1 gene mutation?,What can I do to reduce my risk of having more strokes?,Are there any clinical trials I might be eligible for?,What rehabilitation therapies would be most helpful for me right now?,How often should I have brain MRI scans to monitor changes?,What signs should prompt me to go to the emergency room immediately?
Common questions about HTRA1-related cerebral small vessel disease
What is HTRA1-related cerebral small vessel disease?
HTRA1-related cerebral small vessel disease is a rare inherited condition that affects the small blood vessels in the brain. It is caused by changes (mutations) in the HTRA1 gene, which provides instructions for making a protein that helps maintain healthy blood vessels. When this protein does not work properly, the walls of tiny blood vessels in the brain become damaged over time, reducing blood flow to brain tissue. This disease is also sometimes called HTRA1-related cerebral arteriopathy or, in its autosomal recessive form, CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical
At what age does HTRA1-related cerebral small vessel disease typically begin?
Typical onset of HTRA1-related cerebral small vessel disease is adult. Age of onset can vary across affected individuals.