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PubMed This is a summary of 20 peer-reviewed journal articles Updated
Neurology · Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Understanding Your CADASIL Diagnosis

At a Glance

CADASIL is an inherited condition caused by a NOTCH3 gene mutation that affects small blood vessels in the brain. While it can cause migraines and small strokes, strictly managing blood pressure and avoiding smoking are powerful ways to slow disease progression and protect your brain health.

Receiving a diagnosis of CADASIL often comes after a long and confusing journey of unexplained symptoms. It is natural to feel overwhelmed, but a diagnosis is a turning point. It moves you from a place of uncertainty to a place where you and your medical team can take specific, proactive steps to protect your brain health [1].

What is CADASIL?

CADASIL stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. In plain language, it is a genetic condition that affects the small blood vessels in the brain [2].

  • Cerebral: Related to the brain.
  • Autosomal Dominant: This means the condition is inherited; if one parent has the gene mutation, there is a 50% chance of passing it to their children [3].
  • Arteriopathy: A disease of the arteries (blood vessels).
  • Subcortical Infarcts: Small strokes that happen in the deeper parts of the brain [4].
  • Leukoencephalopathy: Changes or damage to the brain’s “white matter,” which acts like the brain’s wiring [5].

In people with CADASIL, a mutation in the NOTCH3 gene causes a protein to build up in the walls of small blood vessels [6][7]. Over time, this buildup makes the vessels thick and less flexible, making it harder for blood to flow smoothly and eventually leading to small, often “silent” strokes [2].

Why This Diagnosis is Often Delayed

While CADASIL is technically a rare disease, experts believe it is significantly underdiagnosed [8]. Because its symptoms—like migraines with aura, depression, or memory “fog”—overlap with many other more common conditions, it is frequently misdiagnosed as Multiple Sclerosis (MS) or “sporadic” stroke before genetic testing confirms the truth [9][10]. Finding the answer means you can now stop searching for the cause and start focusing on the right care.

Three Stabilizing Facts for Your Diagnosis

  1. Diagnosis Does Not Mean Immediate Dementia: CADASIL is a progressive condition, but it moves at different speeds for everyone [11]. Many people live active, independent lives for decades after their first symptoms appear [12].
  2. You Have Control Over “Modifiable” Risks: While you cannot change your genes, you can change how they affect you. Managing blood pressure and avoiding smoking are the most powerful ways to slow the progression of the disease and prevent further strokes [13][14].
  3. Research is Accelerating: While there is currently no “cure,” medical understanding of CADASIL has grown exponentially. Scientists are testing targeted therapies and using advanced imaging to better predict and manage the condition [1][15]. You can even take an active role by looking into CADASIL patient registries or clinical trials to contribute to the growing science [16].

Certainties vs. Uncertainties

Medical science has established several clear facts about CADASIL, but some areas are still being explored.

What We Know For Sure What is Still Being Researched
It is caused by mutations in the NOTCH3 gene [2]. Why the disease progresses differently in people with the exact same mutation [11].
MRI scans can identify the specific “signature” of CADASIL in the brain’s white matter [5]. How to reliably predict exactly when symptoms will start or how severe they will be [17].
High blood pressure and smoking significantly worsen the disease [13][14]. Which specific medications (like blood thinners or statins) are safest and most effective for every patient [18][16].

Protecting Your Brain

Managing CADASIL focuses on “risk mitigation”—reducing the things that could cause further damage to your blood vessels [3]. This often involves:

  • Rigorous Blood Pressure Control: Keeping blood pressure in a healthy range is one of the most important goals to prevent bleeding or strokes in the brain [19].
  • Symptom Management: Doctors can prescribe specific treatments for migraines and mood changes like depression, though they may advise avoiding certain migraine drugs (like triptans) that constrict blood vessels [3][20].
  • Genetic Counseling: Talking with a counselor can help you understand what this diagnosis means for your family [3].

Common questions in this guide

What does a CADASIL diagnosis mean for my future?
A CADASIL diagnosis means you have a genetic condition affecting your brain's small blood vessels, but it does not mean immediate dementia. The disease progresses at different rates for everyone, and many people live active, independent lives for decades after their first symptoms appear.
How did I get CADASIL?
CADASIL is an inherited genetic condition caused by a mutation in the NOTCH3 gene. Because it is an autosomal dominant condition, a person only needs to inherit the mutated gene from one parent to develop the disease.
What can I do to slow the progression of CADASIL?
While you cannot change your genetics, you can actively protect your brain by strictly managing your blood pressure and avoiding smoking. Controlling these risk factors is the most effective way to prevent further damage to your blood vessels and reduce the risk of future strokes.
Should I avoid certain medications for my migraines if I have CADASIL?
Yes, your doctor may advise you to avoid certain migraine medications, such as triptans. These drugs work by constricting blood vessels, which can be dangerous for people with CADASIL whose blood vessels are already compromised.
What will my brain MRI show if I have CADASIL?
An MRI of a person with CADASIL typically shows a specific signature of changes or damage in the brain's white matter. It can also reveal the presence and burden of small, silent strokes or microbleeds in the deeper parts of the brain.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific NOTCH3 mutation do I have, and does it typically follow a certain clinical pattern?
  2. 2.Based on my latest MRI, how high is my 'burden' of small strokes (lacunar infarcts) or microbleeds?
  3. 3.Are there specific medications I should avoid for my migraines, such as triptans, because of my diagnosis?
  4. 4.What should my target blood pressure be to best protect my brain's blood vessels?
  5. 5.Can you recommend a genetic counselor who can help me talk to my family about their risk?
  6. 6.How often should we repeat my brain imaging to monitor for changes?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (20)
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    Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

    Zhang Y, Wu ZY

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    Cadasil syndrome: A case report with a literature review.

    Lahkim M, Laamrani FZ, Andour H, et al.

    Radiology case reports 2021; (16(11)):3540-3543 doi:10.1016/j.radcr.2021.08.023.

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    Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

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    Annals of neurosciences 2025; 09727531241308346 doi:10.1177/09727531241308346.

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    Recurrent transient global amnesia as presenting symptoms of CADASIL.

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    Clinical case reports 2016; (4(11)):1045-1048 doi:10.1002/ccr3.666.

    PMID: 27830070
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    Role of NOTCH3 Mutations in the Cerebral Small Vessel Disease Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

    Coupland K, Lendahl U, Karlström H

    Stroke 2018; (49(11)):2793-2800 doi:10.1161/STROKEAHA.118.021560.

    PMID: 30355220
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    Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

    Ueda A, Nakajima M, Misumi Y, et al.

    Frontiers in neurology 2022; (13()):881528 doi:10.3389/fneur.2022.881528.

    PMID: 35775048
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    NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

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    Journal of neurology, neurosurgery, and psychiatry 2021; (92(7)):694-701 doi:10.1136/jnnp-2020-325838.

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    CADASIL presenting as late-onset mania with anosognosia.

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    Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports.

    Albanese M, Pescini F, Di Bonaventura C, et al.

    Journal of clinical medicine 2024; (13(7)) doi:10.3390/jcm13071870.

    PMID: 38610637
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    Intracerebral Hemorrhage in Patients With CADASIL: Additive Impact of the NOTCH3 R544C Variant and Hypertension?

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    Stroke 2025; (56(8)):2159-2166 doi:10.1161/STROKEAHA.124.050484.

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    Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prospective Cohort Study.

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    Generation of a human iPSC line with Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL and therapeutic targets.

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    Stem cell research 2025; (84()):103678 doi:10.1016/j.scr.2025.103678.

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    Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.

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    Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals.

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This page provides educational information about CADASIL diagnoses and is not a substitute for professional medical advice. Always consult your neurologist or genetic counselor regarding your specific symptoms, treatment plan, and imaging results.

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