Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (750 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small cerebral arteries producing ischemic stroke; pseudobulbar palsy; and multiple subcortical infarcts (cerebral infarction). cadasil is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. cadasil differs from binswanger disease by the presence of migraine with aura and usually by the lack of history of arterial hypertension. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; Dementia, Hereditary Multi-Infarct Type; Dementia, Hereditary Multi Infarct Type; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; CADASILM.
Where it fits in the MeSH classification
- Broader topics
- Cerebral Infarction; Cerebral Small Vessel Diseases; Dementia, Vascular; Cerebral Arterial Diseases; Genetic Diseases, Inborn
Related concepts
- Cerebral Arteries
- Stroke
- Pseudobulbar Palsy
- Cerebral Infarction
- Cadasil
- Binswanger Disease
- Migraine With Aura
- Hypertension
Research landscape
PubMed indexes 1,160 records tagged with the MeSH heading “CADASIL” (counts retrieved 2026-10-29). 358 of them (30.9%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 504 records.
Reviews account for 176 records (15.2%) and meta-analyses for 3. Randomized controlled trials number 3 (0.3%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 0 |
| 2000-2009 | 310 |
| 2010-2019 | 504 |
| 2020 onward | 358 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 176 | 15.2% |
| Meta-analyses | 3 | 0.3% |
| Randomized controlled trials | 3 | 0.3% |
Method: PubMed query "CADASIL"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations | 2015 | Research article Design not recorded in structured metadata | 114 | cc by PMID 26563570 · DOI · PMC4643246 |
| Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles | 2015 | Research article Design not recorded in structured metadata | 90 | cc by PMID 26308724 · DOI · PMC4550240 |
| Notch3 in Development, Health and Disease | 2020 | Review article Design not recorded in structured metadata | 67 | cc by PMID 32210034 · DOI · PMC7175233 |
| Small vessel dysfunction at 7T MRI locally predicts white matter damage progression in CADASIL | 2026 | Research article Design not recorded in structured metadata | 4 | cc by PMID 40832975 · DOI · PMC12367715 |
Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Pericytes regulate vessel stability and pericyte dysfunction contributes to retinopathies, stroke, and cancer.
- Closing excerpt
- Thus, Notch deficiency compromises pericyte function and contributes to vascular pathologies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (116 words)
Pericytes regulate vessel stability and pericyte dysfunction contributes to retinopathies, stroke, and cancer. Here we define Notch as a key regulator of pericyte function during angiogenesis. In Notch1(+/-); Notch3(-/-) mice, combined deficiency of Notch1 and Notch3 altered pericyte interaction with the endothelium and reduced pericyte coverage of the retinal vasculature. Notch1 and Notch3 were shown to cooperate to promote proper vascular basement membrane formation and contribute to endothelial cell quiescence. Accordingly, loss of pericyte function due to Notch deficiency exacerbates endothelial cell activation caused by Notch1 haploinsufficiency. Mice mutant for Notch1 and Notch3 develop arteriovenous malformations and display hallmarks of the ischemic stroke disease CADASIL. Thus, Notch deficiency compromises pericyte function and contributes to vascular pathologies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 26563570 · DOI · PMC4643246
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement.
- Closing excerpt
- In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (213 words)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal involvement, older age at symptom onset, higher incidence of intracerebral hemorrhage, and rarer occurrence of migraine. Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 26308724 · DOI · PMC4550240
Notch3 in Development, Health and Disease [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Notch3 is one of four mammalian Notch proteins, which act as signalling receptors to control cell fate in many developmental and adult tissue contexts.
- Closing excerpt
- Here we discuss the distinctive roles of Notch3 in development, health and disease, different views as to the underlying mechanisms of its activation and misregulation in different contexts and potential for therapeutic intervention.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (220 words)
Notch3 is one of four mammalian Notch proteins, which act as signalling receptors to control cell fate in many developmental and adult tissue contexts. Notch signalling continues to be important in the adult organism for tissue maintenance and renewal and mis-regulation of Notch is involved in many diseases. Genetic studies have shown that Notch3 gene knockouts are viable and have limited developmental defects, focussed mostly on defects in the arterial smooth muscle cell lineage. Additional studies have revealed overlapping roles for Notch3 with other Notch proteins, which widen the range of developmental functions. In the adult, Notch3, in collaboration with other Notch proteins, is involved in stem cell regulation in different tissues in stem cell regulation in different tissues, and it also controls the plasticity of the vascular smooth muscle phenotype involved in arterial vessel remodelling. Overexpression, gene amplification and mis-activation of Notch3 are associated with different cancers, in particular triple negative breast cancer and ovarian cancer. Mutations of Notch3 are associated with a dominantly inherited disease CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy), and there is further evidence linking Notch3 misregulation to hypertensive disease. Here we discuss the distinctive roles of Notch3 in development, health and disease, different views as to the underlying mechanisms of its activation and misregulation in different contexts and potential for therapeutic intervention.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32210034 · DOI · PMC7175233
Small vessel dysfunction at 7T MRI locally predicts white matter damage progression in CADASIL [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Cerebral small vessel diseases (cSVDs) contribute significantly to stroke and dementia.
- Closing excerpt
- These findings suggest that local vascular function plays a key role in white matter damage progression in CADASIL, highlighting the importance of regional vascular health in cSVDs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (201 words)
Cerebral small vessel diseases (cSVDs) contribute significantly to stroke and dementia. Advanced 7 T MRI techniques have revealed small vessel dysfunction in cSVD patients, linked to global white matter damage cross-sectionally. However, it remains unclear whether these vascular deficits predict progressive tissue damage. This longitudinal study examined the spatial relationship between local vascular function and white matter damage progression in patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Twenty-two patients underwent baseline small vessel function assessment using 7 T MRI. Voxelwise blood-oxygenation level-dependent cerebrovascular reactivity (BOLD-CVR) to a hypercapnic was evaluated. White matter changes were assessed on 3 T MRI over two years, analyzing mean diffusivity changes and conversion of normal-appearing white matter to white matter hyperintensities (WMH). Results showed significant global increases in white matter damage over time. Voxelwise analysis revealed that lower baseline BOLD-CVR magnitude and higher dispersion were associated with increased white matter damage and WMH progression at specific locations at follow-up. However, whole-brain vascular function measures did not predict white matter changes at a global level. These findings suggest that local vascular function plays a key role in white matter damage progression in CADASIL, highlighting the importance of regional vascular health in cSVDs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40832975 · DOI · PMC12367715
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Cadasil [5]
- Research article Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects [6]
- Research article Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy [7]
- Research article CADASIL and CARASIL [8]
- Research article Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature [9]
- Research article Interpretation of NOTCH3 mutations in the diagnosis of CADASIL [10]
References
- Kofler NM, Cuervo H, Uh MK, Murtomäki A, Kitajewski J. Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations. . 2015. PMID 26563570 · DOI · PMC4643246
- Liao YC, Hsiao CT, Fuh JL, Chern CM, Lee WJ, Guo YC, et al.. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. . 2015. PMID 26308724 · DOI · PMC4550240
- Hosseini-Alghaderi S, Baron M. Notch3 in Development, Health and Disease. . 2020. PMID 32210034 · DOI · PMC7175233
- Pham SD, van den Brink H, Kopczak A, Vlegels N, De Luca A, Gesierich B, et al.. Small vessel dysfunction at 7T MRI locally predicts white matter damage progression in CADASIL. . 2026. PMID 40832975 · DOI · PMC12367715
- Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009. PMID 19539236 · DOI
- Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, et al.. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med. 2017. PMID 28231783 · DOI · PMC5324276
- Carare RO, Hawkes CA, Jeffrey M, Kalaria RN, Weller RO. Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy. Neuropathol Appl Neurobiol. 2013. PMID 23489283 · DOI
- Tikka S, Baumann M, Siitonen M, Pasanen P, Pöyhönen M, Myllykangas L, et al.. CADASIL and CARASIL. Brain Pathol. 2014. PMID 25323668 · DOI · PMC8029192
- Joutel A. Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature. Bioessays. 2011. PMID 20967782 · DOI
- Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014. PMID 24844136 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.