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CADASIL: a practical review for the neurologist.
1University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.
Practical Neurology
|May 5, 2026
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic small vessel disease linked to NOTCH3 variants. Research is exploring novel therapies to modify disease progression and improve patient outcomes.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- CADASIL is an inherited small vessel disease caused by NOTCH3 gene mutations.
- It leads to migraines, strokes, cognitive decline, and characteristic neuroimaging findings.
Purpose of the Study:
- To review the clinical presentation, diagnosis, and management of CADASIL.
- To explore emerging therapeutic strategies targeting NOTCH3 for disease modification.
Main Methods:
- Literature review of clinical studies and preclinical research on CADASIL and NOTCH3.
- Analysis of diagnostic criteria and current management guidelines.
Main Results:
- CADASIL diagnosis relies on clinical symptoms, neuroimaging, and genetic testing.
- Current management is supportive, focusing on symptom control and risk factor reduction.
- Preclinical studies show promise for NOTCH3-targeted therapies, including gene silencing and immunotherapy.
Conclusions:
- Effective disease-modifying therapies for CADASIL are needed.
- Further research is crucial to translate emerging strategies into clinical practice for improved patient outcomes.
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