ArticleJournal of clinical neurology (Seoul, Korea)2010
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.
Article in Journal of clinical neurology (Seoul, Korea), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07497867 (Long-term Prognosis of Korean Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy), which is not on this map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Long-term Prognosis of Korean Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy(CADASIL) Patients: A Multicenter Prospective Study
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Association ofMedicina (Kaunas, Lithuania) · 2019Pooled it
- Cholinesterase inhibitors for rarer dementias associated with neurological conditions.The Cochrane database of systematic reviews · 2015Pooled it
- Characteristics and Long-Term Outcome of Acute Ischemic Stroke in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Compared With Sporadic Small Vessel Occlusion.Journal of the American Heart Association · 2025Article
- Multi-Region Brain Organoids Integrating Cerebral, Mid-Hindbrain, and Endothelial Systems.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Review
- Endothelial cells as key players in cerebral small vessel disease.Nature reviews. Neuroscience · 2025Review
- Article
- Four Novel Disease-Causing Variants in theGenes · 2023Article
- Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.Journal of clinical neurology (Seoul, Korea) · 2023Review
- Genotype and Phenotype Differences in CADASIL from an Asian Perspective.International journal of molecular sciences · 2022Review
- Determination of Blood NOTCH3 Extracellular Domain and Jagged-1 Levels in Healthy Subjects.International journal of molecular sciences · 2022Article
- Overlapping Protein Accumulation Profiles of CADASIL and CAA: Is There a Common Mechanism Driving Cerebral Small-Vessel Disease?The American journal of pathology · 2021Review
- Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.Stroke · 2021Review
- Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.Annals of laboratory medicine · 2019Review
- Emerging molecular mechanisms of vascular dementia.Current opinion in hematology · 2019Review
- Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Bosnian journal of basic medical sciences · 2015Review
- Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.PloS one · 2015Article
- Genetics of cerebral small vessel disease.Journal of stroke · 2015Review
- De novo mutation in the NOTCH3 gene causing CADASIL.Bosnian journal of basic medical sciences · 2014Article
- Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course of CADASIL is highly variable, even within families. The involvement of the anterior temporal lobe and the external capsule on brain magnetic resonance imaging was found to have high sensitivity and specificity in differentiating CADASIL from the much more common sporadic cerebral small-vessel disease (SVD). The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.