Overview
This Orphanet entry (code 77304) is listed as 'OBSOLETE: Not NOTCH3-related small vessel disease of the brain.' This means it was once used as a placeholder or working classification for small vessel diseases of the brain that are NOT caused by changes in the NOTCH3 gene — the gene responsible for a well-known condition called CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Because this entry has been marked obsolete, it no longer represents a single, clearly defined disease. Instead, it was a broad grouping that has since been reorganized into more specific diagnoses. Small vessel diseases of the brain in general refer to conditions where the tiny blood vessels deep inside the brain are damaged or do not work properly. This can lead to small strokes, memory problems, difficulty walking, and mood changes over time. There are many different genetic and non-genetic causes of this type of brain disease. If you or a loved one has been given a diagnosis related to this category, it is important to work with a specialist to identify the specific underlying cause, as treatment and outlook can vary greatly depending on the exact diagnosis. This obsolete code should be replaced by a more precise current diagnosis.
Key symptoms:
Small strokes or mini-strokesMemory loss or thinking problemsDifficulty walking or balance problemsMood changes or depressionHeadaches, sometimes severeWeakness or numbness on one side of the bodyBladder control problemsSlowed thinking or confusion
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 OBSOLETE: Not NOTCH3-related small vessel disease of the brain.
View clinical trials →Clinical Trials
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New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Not NOTCH3-related small vessel disease of the brain.
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 OBSOLETE: Not NOTCH3-related small vessel disease of the brain.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 specific genetic or other cause has been identified for my small vessel brain disease?,Should I have a comprehensive genetic panel test to find the exact diagnosis?,What can I do to reduce my risk of future strokes?,Are any of my family members at risk and should they be tested?,Are there any clinical trials I might be eligible for?,What symptoms should prompt me to go to the emergency room immediately?,What specialists should be part of my care team?
Common questions about OBSOLETE: Not NOTCH3-related small vessel disease of the brain
What is OBSOLETE: Not NOTCH3-related small vessel disease of the brain?
This Orphanet entry (code 77304) is listed as 'OBSOLETE: Not NOTCH3-related small vessel disease of the brain.' This means it was once used as a placeholder or working classification for small vessel diseases of the brain that are NOT caused by changes in the NOTCH3 gene — the gene responsible for a well-known condition called CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Because this entry has been marked obsolete, it no longer represents a single, clearly defined disease. Instead, it was a broad grouping that has since been reorganized
At what age does OBSOLETE: Not NOTCH3-related small vessel disease of the brain typically begin?
Typical onset of OBSOLETE: Not NOTCH3-related small vessel disease of the brain is adult. Age of onset can vary across affected individuals.