SynthesisPloS one2015
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.
Synthesis in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.The Lancet. Neurology · 2021Pooled it
- Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.Neurology · 2026Observational
- Genetic Downregulation of Interleukin-6 Signaling and Arteriolosclerotic Cerebral Small Vessel Disease: A Drug Target Mendelian Randomization Analysis.Journal of the American Heart Association · 2025Article
- Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.Alzheimer's research & therapy · 2025Article
- ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.Genes · 2025Review
- Unlocking the Medicinal Mysteries: Preventing Lacunar Stroke with Drug Repurposing.Biomedicines · 2023Article
- Disturbances of Ocular Circulation in Color Doppler Imaging, Retinal Changes and Electrophysiological Tests with Neuro-Ophthalmological Clinical Symptoms in the Course of CADASIL Syndrome-A Case Report.Journal of clinical medicine · 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
- Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.Neurology. Genetics · 2022Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Mutations inFrontiers in molecular biosciences · 2021Article
- Young onset dementia: Public involvement in co-designing community-based support.Dementia (London, England) · 2020Article
- Investigating diagnostic sequencing techniques for CADASIL diagnosis.Human genomics · 2020Article
- Article
- How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology · 2019Article
- Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.International journal of molecular sciences · 2019Review
- Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke.Molecular neurobiology · 2019Review
- Prevalence and clinical characteristics of stroke patients with p.R544CAnnals of clinical and translational neurology · 2019Article
- The role of clinical and neuroimaging features in the diagnosis of CADASIL.Journal of neurology · 2018Article
- Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
background and purposeCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease (SVD). Fabry disease (FD) due to mutations in the GLA gene has been suggested as an underdiagnosed cause of stroke, and one feature is SVD. Previous studies reported varying prevalence of CADASIL and FD in stroke, likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset SVD. We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic patients with lacunar infarct.
methodsCaucasian patients with lacunar infarction, aged ≤70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist stroke centres throughout the UK as part of the Young Lacunar Stroke DNA Resource. Patients with a previously confirmed monogenic cause of stroke were excluded. All MRI's and clinical histories were reviewed centrally. Screening was performed for NOTCH3 and GLA mutations.
resultsOf 994 subjects five had pathogenic NOTCH3 mutations (R169C, R207C, R587C, C1222G and C323S) all resulting in loss or gain of a cysteine in the NOTCH3 protein. All five patients had confluent leukoaraiosis (Fazekas grade ≥2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1%) and among cases with confluent leukoaraiosis 1.5% (95% CI 0.6%-3.3%). No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD.
conclusionCADASIL cases are rare and only detected in SVD patients with confluent leukoaraiosis. No definite FD cases were detected.
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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.