In normal life, tiny brain arteries feed the deep brain. If those vessels get sick or narrow, blood flow is not steady. Little clots may form. The brain wiring does not get enough oxygen. Over time, the result is two things at once: many tiny deep strokes and white matter injury.
In CADASIL, the NOTCH3 mutation makes the vessel wall thick and stiff. Under a microscope, doctors can even see special deposits called granular osmiophilic material (GOM) around the smooth muscle cells of the small arteries. This is a key clue. NCBIPMC+1
Another inherited condition called CARASIL (recessive, caused by HTRA1 mutations) can cause a similar pattern of deep strokes and white-matter disease, usually starting earlier in life. PubMedMedlinePlusNCBI
On brain MRI, this pattern has some “classic” features. In CADASIL, white-matter changes often show up in the anterior temporal lobes and in the external capsule. Lacunes (the tiny old strokes) and small microbleeds can also be seen. These MRI signs help doctors suspect the disease. PMCScienceDirectBioMed Central
Types
Doctors sometimes talk about “types” of this condition, but they really mean different causes or different ways it shows up. Here is a simple, useful way to group it:
Inherited small-vessel disease (monogenic)
CADASIL (NOTCH3 mutation; autosomal dominant). Usually starts in mid-adulthood with migraine with aura, small strokes, mood or thinking changes. MRI often shows anterior temporal lobe and external capsule white-matter changes. NCBIPMC
CARASIL (HTRA1 mutation; autosomal recessive). Often earlier onset, with back pain, hair loss, and spasticity along with deep strokes and white-matter disease. PubMedMedlinePlus
Other inherited small-vessel diseases that can look similar on MRI include COL4A1/2-related disease (type IV collagen problems), and heterozygous HTRA1–related late-onset small-vessel disease. NCBIPMCFrontiers
Acquired small-vessel disease (not inherited)
Long-standing high blood pressure, diabetes, smoking, and high cholesterol can injure small brain vessels over time, causing the same “deep lacunes + white matter” picture. (These are standard vascular-risk mechanisms described in stroke guidelines.) National Clinical Guideline for Stroke
Conditions that mimic the pattern
Some autoimmune and metabolic diseases (for example, antiphospholipid syndrome, Fabry disease, some mitochondrial disorders like MELAS) can also create deep strokes and white-matter changes. They need different testing and care. FrontiersSpringerOpenNCBI
Toxic, drug, or radiation-related white-matter injury
Radiation and some chemotherapies can cause white-matter damage.
Certain drugs or toxins (for example, metronidazole at high dose or heroin vapor inhalation or other substances) can cause “toxic leukoencephalopathy.” These usually have a different story and can be partly reversible if the exposure stops soon. PMC+3PMC+3PMC+3
Causes
CADASIL (NOTCH3 gene, autosomal dominant). A single changed gene weakens small brain vessel walls, so blood supply fails in tiny areas again and again, and MRI shows a typical pattern in the temporal poles and external capsule together with deep small strokes and microbleeds. BioMed Central
CARASIL (HTRA1 gene, autosomal recessive). Two changed copies of the HTRA1 gene damage small vessels early in life and may also cause back problems and hair loss; brain MRI shows widespread white-matter change and deep small strokes. Frontiers
HTRA1-related autosomal-dominant small-vessel disease. One changed HTRA1 copy can cause a milder, later-onset version of this small-vessel problem that still harms white matter over time. MedNexus
COL4A1/COL4A2-related arteriopathy. Changes in the genes for a key blood-vessel basement-membrane protein weaken vessel walls and can cause deep small strokes, white-matter disease, and sometimes brain bleeds. PMC
RVCL-S (TREX1 gene). This inherited small-vessel disease injures both the eyes and the brain and can create punctate and mass-like white-matter lesions with edema and enhancement; it can mimic tumors on scan but is a vessel wall problem. col4a1.net
Fabry disease (GLA gene, enzyme deficiency). This X-linked condition clogs small-vessel cells with storage material, leading to lacunes, white-matter changes, and sometimes microbleeds on MRI even at a young age. PMC
Long-standing high blood pressure. Years of pressure damage thicken and narrow the tiniest arteries, so the deep brain gets less blood flow and develops white-matter damage and lacunar scars.
Cerebral amyloid angiopathy. Amyloid protein builds up in small cortical and leptomeningeal vessels; it commonly causes lobar bleeds but also brings white-matter disease and microbleeds that worsen thinking and walking. PMC
Antiphospholipid syndrome. Sticky auto-antibodies make small clots more likely inside tiny brain vessels, so people accumulate deep small strokes and MRI white-matter spots even when big arteries look normal. MDPI
Primary CNS vasculitis (PACNS). Inflammation in brain vessel walls narrows or blocks flow in the small arteries and arterioles, causing scattered deep strokes and white-matter injury that slowly accumulate. PMC
Systemic autoimmune disease with brain involvement (for example, lupus with or without APS). Immune activity and clotting tendencies together can injure small brain vessels and produce a subcortical infarct and leukoencephalopathy pattern over time. ajnr.org
High homocysteine. This blood chemical hurts the inner lining of small vessels and is linked with white-matter lesions and lacunes on MRI. PMC
Vitamin B12 deficiency. Lack of B12 harms myelin in brain and spinal cord and can create a leukoencephalopathy pattern that may improve if the deficiency is corrected early. PMC
Delayed post-hypoxic leukoencephalopathy. After a major low-oxygen event, some people seem to get better and then worsen weeks later as the white matter demyelinates in a delayed way. Frontiers
Toxic leukoencephalopathy from heroin vapor (“chasing the dragon”). Heated heroin inhalation can severely damage white matter and cause a diffuse leukoencephalopathy. PMC
Radiation-induced leukoencephalopathy. Prior brain radiation can lead to progressive white-matter damage and cognitive slowing months to years later. PMC
Progressive multifocal leukoencephalopathy (PML) from JC virus. In people with weak immune systems, JC virus attacks the cells that make myelin and produces multifocal white-matter lesions without mass effect. Nature
Sickle cell disease. Sickled red cells obstruct tiny brain vessels and lead to silent deep strokes and white-matter scars that show up on MRI even in childhood. PMC
Diabetes and lipid disorders acting on small vessels. Over years, sugar and fat abnormalities injure the vessel lining and speed up small-vessel disease, adding to white-matter injury.
Common symptoms
People do not all have the same symptoms. Symptoms can start mild and grow slowly. They often come in mid-adulthood but can start earlier or later, depending on the cause.
Headaches that feel like migraine, often with aura (flashing lights or zig-zag lines). (Very common in CADASIL.) NCBI
Brief weakness or numbness on one side (mini-stroke or stroke). NCBI
Trouble speaking or slurred speech during an attack. NCBI
Slow thinking and memory problems that build up over years. NCBI
Trouble with planning and focus (executive function slows down). NCBI
Low mood, apathy, or depression (changes in emotion and motivation). NCBI
Personality changes or irritability that others notice. NCBI
Balance problems or clumsy walking (gait becomes unsteady). NCBI
Urinary urgency or frequent urination (sometimes due to frontal network damage). NCBI
Dysarthria (speech sounds slurred or slow). NCBI
Vision changes during migraines or strokes. NCBI
Pseudobulbar affect (sudden laughing or crying that is hard to control). NCBI
Seizures (less common but can happen). BioMed Central
Fatigue and slowed processing during daily tasks. NCBI
Dementia later in the course in some people (especially with many lacunes and widespread white-matter disease). NCBI
How doctors make the diagnosis
Doctors use the story, the exam, brain scans, and sometimes genetic tests or a skin biopsy to confirm the cause.
For CADASIL, DNA testing for NOTCH3 variants is the gold standard today. When needed, a skin biopsy under the microscope can show GOM deposits, which strongly supports the diagnosis. NCBIPubMed
MRI helps a lot. In CADASIL, white-matter changes often involve the anterior temporal lobes and external capsule, and there are lacunes and sometimes microbleeds. PMCScienceDirect
A) Physical exam
General neurological exam
The doctor checks strength, sensation, reflexes, eye movements, speech, and coordination. This helps find signs of a past or current small stroke and white-matter network slowdown. (Standard clinical practice.)Cognitive screening (e.g., MoCA or MMSE)
A short paper test checks memory, attention, language, and planning. White-matter disease often slows these skills.Gait and balance observation
The doctor watches how you walk and turn. White-matter damage can make the walk short-stepped and slow.Blood pressure measurement
High blood pressure damages small brain arteries and raises risk for future deep strokes, so it is always checked. National Clinical Guideline for Stroke
B) Manual bedside tests
Finger-to-nose and heel-to-shin
These look for coordination problems from deep brain injury.Pronator drift
You hold both arms out; a drifting arm can signal a subtle weakness from a small stroke.Romberg test
Standing with feet together, then eyes closed. Swaying suggests sensory or network balance problems.Timed Up and Go
You stand, walk a short distance, turn, and sit. This simple timed test shows how white-matter damage can slow movement planning.
C) Lab and pathological tests
Basic blood tests
A complete blood count, kidney function, liver enzymes, and thyroid tests help exclude other issues that can worsen brain function (for example, anemia or thyroid disease).Vascular risk labs
Fasting lipids, fasting glucose/A1c, and sometimes homocysteine guide risk-factor treatment that protects small vessels. (Stroke guidelines emphasize aggressive risk control.) National Clinical Guideline for StrokeAutoimmune and clotting screens when appropriate
Tests for antiphospholipid antibodies or other autoimmune markers are considered if the story suggests an autoimmune cause. PMCGenetic testing
If the story or MRI fits an inherited cause, doctors can test genes like NOTCH3 (for CADASIL), HTRA1 (for CARASIL or related disorders), COL4A1/2, or others. NCBI+1PubMedSkin biopsy (pathology)
A tiny skin sample examined by electron microscopy can show GOM deposits in CADASIL. This is very specific when present. PubMed
D) Electrodiagnostic tests
Electroencephalogram (EEG)
If seizures or spells are suspected, EEG checks brain electrical activity. Seizures are not the most common feature but can occur in CADASIL. BioMed CentralElectrocardiogram (ECG) and ambulatory monitoring (Holter)
These look for heart rhythm problems (like atrial fibrillation) that could cause strokes from clots, helping separate small-vessel disease from embolic causes. (Standard stroke work-up.)Evoked potentials (selected cases)
Visual or somatosensory evoked responses can show slowed signal conduction along white-matter tracts, though they are not routinely required.
E) Imaging tests
MRI brain with T2/FLAIR
This is the key scan. It shows white-matter hyperintensities (bright patches), lacunes (tiny old strokes), and sometimes microbleeds. In CADASIL, the anterior temporal lobes and external capsule are often involved. PMCSusceptibility-weighted imaging (SWI) or T2 GRE*
These MRI sequences show microbleeds (tiny iron spots from old blood), which can be common in small-vessel disease like CADASIL. ScienceDirectDiffusion-weighted MRI (DWI)
This detects new small strokes quickly, guiding urgent care. (Standard stroke imaging practice.)Vessel imaging as needed (MRA/CTA/Carotid ultrasound)
These check for large-artery disease when the story is unclear, helping rule in small-vessel disease when large arteries look normal. (Standard stroke work-up.)
Non-pharmacological treatments
Blood-pressure lifestyle plan
Purpose: Lower stroke risk and slow small-vessel damage.
Mechanism: Regular aerobic activity, salt reduction, healthy weight, and moderated alcohol lower systolic pressure and arterial pulsatility, protecting fragile deep vessels. PMCprofessional.heart.orgMediterranean/DASH eating pattern
Purpose: Reduce recurrent stroke risk and improve vascular health.
Mechanism: High in plants, whole grains, legumes, nuts, olive oil; low in salt and processed foods — this improves lipids, endothelial function, and BP. professional.heart.orgAerobic exercise most days
Purpose: Improve cerebral blood-flow regulation, mood, and walking.
Mechanism: Exercise enhances nitric-oxide signaling and cerebrovascular reactivity; it also reduces insulin resistance and BP. professional.heart.orgStructured smoking cessation
Purpose: Reduce stroke and microbleed risk.
Mechanism: Stopping smoking decreases oxidative injury to small vessels and platelet activation. (General stroke prevention guidance.) professional.heart.orgSleep optimization & sleep-apnea treatment
Purpose: Protect cognition and lower BP spikes at night.
Mechanism: CPAP and sleep hygiene reduce intermittent hypoxia and sympathetic surges that strain small vessels. (Stroke prevention best practices.) professional.heart.orgHydration & avoid abrupt BP drops
Purpose: Prevent low-flow episodes in already narrowed small vessels.
Mechanism: Adequate fluids and cautious antihypertensive titration help maintain perfusion, especially in heat or illness. (Expert consensus for cSVD.) PMCMigraine trigger diary & routine
Purpose: Fewer migraines; less ER care.
Mechanism: Regular sleep/meals, avoiding known triggers (dehydration, excess caffeine, missed meals), and stress-reduction stabilize cortical excitability. (Headache society guidance.) American Headache SocietyCognitive rehabilitation
Purpose: Support attention, planning, and task management.
Mechanism: Therapist-guided drills and compensatory strategies harness neuroplasticity and offload executive tasks (lists, calendars). (Vascular cognitive impairment practice.) NCBIPhysical therapy (gait & balance)
Purpose: Reduce falls and keep mobility.
Mechanism: Strengthening, balance training, and dual-task practice improve stride, stability, and confidence after lacunes.Occupational therapy & home safety
Purpose: Keep independence in daily tasks.
Mechanism: Adaptive equipment, task simplification, and home modifications reduce effort and fall risk.Speech-language therapy
Purpose: Improve speech or swallowing if strokes affect these.
Mechanism: Targeted exercises and safe-swallow strategies protect nutrition and reduce aspiration. (Stroke rehab standards.) Canadian Stroke Best PracticesPsychological support (CBT, counseling)
Purpose: Manage depression, apathy, and adjustment.
Mechanism: Structured therapy improves coping, sleep, activity, and medication adherence. NCBIVaccinations (flu, COVID-19, pneumonia as advised)
Purpose: Prevent infections that can spike BP, dehydrate, or increase stroke stress.
Mechanism: Fewer systemic inflammations → fewer hits to small vessels. (General stroke-risk mitigation.) professional.heart.orgFamily education & genetic counseling
Purpose: Inform life planning and test at-risk relatives when appropriate.
Mechanism: Autosomal-dominant inheritance means each child has ~50% chance to inherit the variant; counseling supports informed choices. NCBIAvoid unnecessary invasive angiography
Purpose: Reduce risk of complications in fragile vessels.
Mechanism: Use noninvasive imaging first (MRI/MRA/CTA). (Expert recommendations in CADASIL care.)Careful surgery/anesthesia planning
Purpose: Prevent BP swings and hypoperfusion during procedures.
Mechanism: Share the CADASIL diagnosis with anesthesiologists; maintain stable hemodynamics.Alcohol moderation
Purpose: Lower atrial-arrhythmia risk and BP spikes; protect sleep.
Mechanism: Keeps catecholamines and nocturnal BP in check. (Stroke prevention guidance.) professional.heart.orgHeat management
Purpose: Avoid dehydration-induced symptoms.
Mechanism: Fluids and cool environments reduce blood-viscosity-related hypoperfusion risk.Medication review for safety
Purpose: Avoid drug combinations that raise bleeding risk or drop BP too low.
Mechanism: Regular checks help balance antiplatelets, antihypertensives, and migraine meds. (SPS3 lessons on bleeding and BP targets.) PMCCommunity & caregiver support
Purpose: Reduce burnout and isolation; maintain engagement.
Mechanism: Practical help and social connection support mood and cognition. NCBI
Drug treatments
Important: No medicine has been proven to slow or stop CADASIL itself. The drugs below treat complications (strokes, migraines, mood, seizures) and reduce common vascular risks. Always individualize with a stroke/neurology team. NCBI
Aspirin (antiplatelet)
Typical dose/time: 75–100 mg daily long-term after an ischemic event (doctor-directed).
Purpose/mechanism: Reduces platelet clumping → fewer new ischemic lacunar strokes.
Key cautions: GI bleeding; higher microbleed burden raises hemorrhage risk. Avoid routine dual antiplatelet therapy for lacunar stroke (harm shown in SPS3). PMCClopidogrel (antiplatelet)
Dose: 75 mg daily (alternative to aspirin if intolerant).
Purpose: Secondary prevention after ischemic stroke/TIA.
Caution: Don’t combine long-term with aspirin for lacunar stroke; bleeding risk outweighs benefit. PMCCilostazol (PDE-3 inhibitor antiplatelet)
Dose: Commonly 100 mg twice daily (per local practice).
Purpose: Secondary prevention with possibly lower hemorrhagic risk in small-vessel disease.
Mechanism: Antiplatelet + endothelial-protective effects; may reduce arterial pulsatility.
Cautions: Headache, palpitations; not suitable with heart failure. PMCPerindopril / other ACE inhibitors (antihypertensive)
Dose: Perindopril often 4–8 mg/day; titrate to BP goal.
Purpose: BP control to <130 mmHg in lacunar-stroke patients when tolerated.
Mechanism: Lowers arterial pressure and protects microvasculature; may slow WMH progression.
Caution: Don’t over-lower in older, frail patients (cognition may worsen). PMCThiazide diuretic (e.g., indapamide) or ARB (e.g., candesartan)
Purpose/mechanism: Add-on for BP target; ARBs also useful for migraine prevention in some people.
Cautions: Monitor electrolytes (thiazides); dizziness at initiation.High-intensity statin (e.g., atorvastatin) — only if indicated
Purpose: Treat dyslipidemia per standard secondary-prevention rules; not specific to CADASIL.
Mechanism: Plaque stabilization, reduced ischemic events overall.
Caution: Use for usual indications; not automatically recommended just for CADASIL. PMCTopiramate (migraine prevention)
Dose: Often start 25 mg at night → 50–100 mg twice daily as tolerated.
Purpose/mechanism: Lowers cortical excitability; reduces migraine frequency.
Cautions: Tingling, cognitive slowing, kidney stones. (General migraine prevention evidence.)Propranolol or candesartan (migraine prevention)
Dose: Propranolol commonly 40–160 mg/day; candesartan 16–32 mg/day.
Purpose: Fewer migraines; candesartan also treats BP.
Cautions: Propranolol not for asthma; candesartan watch potassium/BP.Acetazolamide (selected migraine with aura; off-label in CADASIL)
Dose: Often 125–250 mg once or twice daily in reports.
Purpose/mechanism: Carbonic anhydrase inhibitor that can improve cerebral perfusion reserve and may reduce aura frequency in some CADASIL series; evidence is anecdotal/small.
Caution: Pins-and-needles, fatigue; avoid in sulfa allergy. PMCAmerican Heart Association JournalsSertraline (SSRI) or similar for depression/apathy; Levetiracetam for seizures
Dose: Sertraline 50–200 mg/day; levetiracetam 500–1500 mg twice daily.
Purpose: Treat common psychiatric or seizure complications.
Mechanism: Restores neurotransmitter balance; stabilizes neuronal firing.
Cautions: Drug–drug interactions; mood monitoring.
Triptans for acute migraine: may be considered second/third-line (not first-line) in CADASIL; discuss risks individually.
Donepezil/memantine: A randomized trial of donepezil in CADASIL did not improve the primary cognitive outcome (small executive gains of uncertain clinical value). Memantine helps in vascular dementia broadly but hasn’t been proven in CADASIL. The LancetAmerican Heart Association Journals
Dietary molecular supplements
Supplements are adjuncts, not replacements. Review each with your clinician, especially if you use antiplatelets or BP meds.
Magnesium (oxide or citrate) — 400–500 mg/day
Function: Migraine prevention; supports nerve stability.
Mechanism: Blocks NMDA calcium influx and stabilizes vascular tone. American Headache SocietyAmerican Migraine FoundationRiboflavin (vitamin B2) — 400 mg/day
Function: Migraine prevention.
Mechanism: Improves mitochondrial energy handling in cortex. The Migraine TrustCoenzyme Q10 — 100–300 mg/day
Function: May reduce migraine frequency; antioxidant.
Mechanism: Supports mitochondrial electron transport. PMCMelatonin — 2–5 mg at night
Function: Sleep/migraine aid.
Mechanism: Modulates trigeminovascular activation and sleep architecture. American Headache SocietyB-vitamins (B6/B9/B12 as homocysteine-lowering combo) — typical daily doses per product (e.g., folic acid 0.8–2 mg, B12 0.5–1 mg, B6 25–50 mg)
Function: May slow WMH progression in people with severe small-vessel disease.
Mechanism: Lowers homocysteine, which is linked to WMH burden. Evidence shows benefit in those with more severe baseline disease. PubMedPMCVitamin D — dose to reach 25-OH D ~30–50 ng/mL (doctor-guided)
Function: General vascular/immune support; low levels correlate with SVD markers in some studies.
Mechanism: Anti-inflammatory and endothelial effects; association data are mixed. PMCOmega-3 fatty acids (EPA/DHA) — 1–2 g/day
Function: Anti-inflammatory lipid profile; possible migraine aid.
Mechanism: Eicosanoid shift → less vasoconstrictive signaling.Alpha-lipoic acid (ALA) — 300–600 mg/day
Function: Antioxidant; may support metabolic health relevant to vessels.
Mechanism: Scavenges reactive oxygen species; improves glucose handling.Citrulline/L-arginine — 1–3 g/day (avoid with severe hypotension)
Function: Support nitric-oxide production and endothelial function.
Mechanism: NO precursor → better vasodilation.Tocotrienol-rich vitamin E — as labeled
Function: Small studies suggest slower WMH progression in some groups; evidence preliminary.
Mechanism: Antioxidant protection of myelin and endothelium. PMC
Regenerative/immune/stem-cell” approaches
There are no approved “immunity boosters” or stem-cell drugs for CADASIL. The approaches below are experimental; no clinical dosing exists yet.
Antisense-mediated NOTCH3 exon skipping
Goal/mechanism: Skip the mutated exon to restore even cysteine numbers in the NOTCH3 protein and reduce toxic aggregation. Status: pre-clinical. Dose: N/A (not established in humans). NCBIImmunotherapy targeting NOTCH3 aggregates
Goal/mechanism: Antibody or immune-mediated clearance of extracellular NOTCH3 deposits to protect vessel smooth-muscle cells. Dose: N/A (pre-clinical). NCBIStem-cell factor (SCF) + G-CSF
Goal/mechanism: Mobilize progenitor cells and enhance vascular repair; shown in animal models. Dose: N/A (human dosing not established). NCBISmall-molecule enhancers of NOTCH3 ECD clearance
Goal/mechanism: Promote removal of misfolded NOTCH3 fragments (under investigation). Dose: N/A. FrontiersGene editing (CRISPR-based) concepts
Goal/mechanism: Correct pathogenic NOTCH3 variants in principle. Dose: N/A; early conceptual stage.Neuroprotection (e.g., memantine) extrapolated from vascular dementia
Goal/mechanism: Reduce excitotoxic injury and support cognition; not proven in CADASIL yet. Dose: Only per other indications; CADASIL-specific trials needed. American Heart Association Journals
Procedures/surgeries
Mechanical thrombectomy (for large-vessel occlusion strokes, which are uncommon in CADASIL but can occur)
What/why: Catheter removes a big clot to save brain tissue.
Note: Recommended up to 16–24 hours in selected patients per AHA/ASA. www.stroke.orgDecompressive hemicraniectomy (for malignant brain swelling after a large stroke)
What/why: Temporarily removes a skull flap to prevent deadly pressure. Best within ~48 hours in selected patients. Canadian Stroke Best PracticesCarotid endarterectomy or stenting (if you also have significant carotid narrowing causing symptoms)
What/why: Revascularization lowers future stroke risk in the right patients. Decision is anatomy- and risk-based per guidelines. American Heart Association JournalsAmerican College of CardiologyFeeding tube (PEG) (for severe, persistent post-stroke swallowing problems)
What/why: Ensures nutrition and reduces aspiration after a time-limited trial of nasogastric feeding. PMCIntrathecal baclofen pump or botulinum toxin (for severe spasticity)
What/why: Reduces painful stiffness and improves care; specialist decision.
Ways to prevent problems
Know your numbers: keep systolic BP under 130 mmHg if you’ve had a lacunar stroke and can tolerate it; check home BP. PMC
Don’t smoke; get help to quit. professional.heart.org
Move daily: aim for 150+ minutes/week of moderate activity. professional.heart.org
Eat Mediterranean/DASH; limit salt and ultra-processed foods. professional.heart.org
Take antiplatelet therapy only when indicated (usually after a stroke/TIA, not just because you carry a variant). Avoid long-term dual therapy for lacunar strokes. PMC
Treat diabetes, lipids, and sleep apnea per guidelines. professional.heart.org
Use migraine prevention if frequent; keep a trigger diary. American Headache Society
Avoid dehydration, extreme heat, and sudden BP drops. PMC
Keep vaccines up to date (flu, COVID-19, pneumonia as advised). professional.heart.org
Share your diagnosis with clinicians before surgeries or new prescriptions (for anesthesia and antithrombotic planning).
When to see a doctor urgently
New stroke-like symptoms: sudden weakness or numbness on one side, vision loss, severe new headache, confusion, or trouble speaking — call emergency services immediately.
A new or rapidly worsening headache pattern (especially with aura) or seizure.
Step-wise drop in thinking, walking, or continence.
Black or bloody stools, vomiting blood, or easy bruising while on antiplatelets.
Planning pregnancy or family testing questions — see neurology and genetics. NCBI
What to eat
Eat more of:
Vegetables and fruits (aim 5+ servings/day).
Whole grains (oats, brown rice, barley).
Legumes (lentils, chickpeas, beans).
Nuts and seeds (handful/day if not contraindicated).
Olive oil as main fat. professional.heart.org
Limit or avoid:
- Excess salt (target <5–6 g/day of salt; your doctor may advise lower).
- Processed meats and refined snacks.
- Trans fats and frequent deep-fried foods.
- Sugary drinks and sweets.
- Heavy alcohol; if you drink, keep it modest. professional.heart.org
FAQs
1) Is CADASIL the same as “subcortical infarcts and leukoencephalopathy”?
CADASIL is the classic genetic condition that literally includes those words in its name. Other disorders (for example CARASIL or sporadic small-vessel disease) can look similar, but CADASIL is autosomal dominant and linked to NOTCH3. NCBI
2) How is CADASIL inherited?
Autosomal dominant. Each child of an affected person has a 50% chance of inheriting the variant. Genetic counseling is recommended. NCBI
3) What MRI findings are most suggestive?
White-matter changes in the anterior temporal poles and external capsules, plus lacunes and sometimes microbleeds. Journal of Stroke
4) Is there a cure?
No proven disease-modifying therapy yet; care centers on risk-factor control and symptom treatment. Multiple experimental ideas are in the pipeline. NCBI+1
5) Should I take aspirin just because I have CADASIL?
Generally no. Antiplatelets are usually used after a TIA or stroke, not as blanket primary prevention. Your neurologist individualizes this. Dual antiplatelet therapy is not advised long-term in lacunar stroke patients. PMC
6) Can I get clot-buster (tPA) if I have a stroke?
This is complex. Because CADASIL often involves microbleeds and lacunar strokes, expert sources recommend against thrombolysis for typical lacunar CADASIL strokes; decisions depend on stroke type and imaging. Emergency teams will weigh risks and benefits.
7) Are triptans safe for my migraines?
Triptans aren’t first-line in CADASIL but can be considered as second/third-line with medical guidance. Preventive strategies are important.
8) Do statins help CADASIL itself?
Statins don’t treat CADASIL directly. Use them if you have standard cholesterol indications per stroke guidelines. PMC
9) What blood-pressure target should I aim for?
After a lacunar stroke, <130 mmHg systolic is recommended if tolerated; avoid over-lowering in frail people with heavy white-matter disease. PMC
10) Does acetazolamide help?
Some small series suggest it may help migraine with aura and improve perfusion reserve, but the evidence is limited; it’s off-label. PMCAmerican Heart Association Journals
11) Do Alzheimer’s drugs help thinking in CADASIL?
A randomized trial found donepezil did not improve the main cognitive outcome (minor executive gains of unclear importance). Memantine helps in vascular dementia overall but not proven in CADASIL. The LancetAmerican Heart Association Journals
12) What about supplements?
Some (magnesium, riboflavin, CoQ10, melatonin) can help migraine prevention; B-vitamins may help WMH progression only in those with severe small-vessel disease. Discuss interactions first. American Headache SocietyThe Migraine TrustPubMed
13) Should my relatives be tested?
If a pathogenic NOTCH3 variant is known in the family, at-risk relatives can consider predictive testing with genetic counseling. Testing minors who have no symptoms is usually discouraged for adult-onset conditions. NCBI
14) Is pregnancy dangerous with CADASIL?
Most pregnancies are uncomplicated, though some small studies noted more neurologic events around delivery. Plan with neurology and obstetrics. NCBI
15) Can I donate organs or have anesthesia?
Yes, organ donation is possible; anesthesia is fine with careful BP management. Tell your teams about the diagnosis in advance.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: August 15, 2025.
