ArticleJournal of neurology2018
The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06935578 (RAre, But Not aLone), which is not on this map. Cited by 20 papers, 3 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.
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Reliability and validity of the total cerebral small vessel disease score: a systematic review and meta-analysis.Frontiers in neurology · 2025Pooled it
- Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review.Journal of neurology · 2024Pooled it
- Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum.Neurogenetics · 2026Article
- Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.Brain and behavior · 2025Article
- Intracerebral hemorrhage in CADASIL.Journal of the Chinese Medical Association : JCMA · 2025Review
- Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.Frontiers in neurology · 2025Review
- NOTCH3 Mutation Causes Glymphatic Impairment and Promotes Brain Senescence in CADASIL.CNS neuroscience & therapeutics · 2025Article
- Intracerebral haemorrhage - mechanisms, diagnosis and prospects for treatment and prevention.Nature reviews. Neurology · 2024Review
- Review
- Assessment of bidirectional relationships between brain imaging-derived phenotypes and stroke: a Mendelian randomization study.BMC medicine · 2023Article
- Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.Arquivos de neuro-psiquiatria · 2023Article
- Cerebral small-vessel disease at high altitude: A comparison of patients from plateau and plain.Frontiers in neurology · 2023Article
- Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis.Journal of clinical neurology (Seoul, Korea) · 2022Article
- Imaging Characteristics for Predicting Cognitive Impairment in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.Frontiers in aging neuroscience · 2022Article
- Heritable and non-heritable uncommon causes of stroke.Journal of neurology · 2021Review
- Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.Cerebellum (London, England) · 2020Review
- Imaging-based pregenetic screening for NOTCH3 p.R544C mutation in ischemic stroke in Taiwan.Annals of clinical and translational neurology · 2020Article
- Prevalence and Atypical Clinical Characteristics ofFrontiers in aging neuroscience · 2020Article
- A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report.BMC neurology · 2019Article
Corrections and comments
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Authors and funding
51 authors at 20 institutions in 3 countries.
Funding
Abstract
backgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.
methodsPatients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities.
results128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity.
conclusionsA careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.
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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.