ReviewJournal of neurology2015
Monogenic causes of stroke: now and the future.
Review in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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
30 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.Genes · 2025Review
- Recent Advances in Stroke Genetics-Unraveling the Complexity of Cerebral Infarction: A Brief Review.Genes · 2025Review
- Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities.International journal of general medicine · 2024Review
- Methylenetetrahydrofolate reductase polymorphisms and elevated plasma homocysteine levels in small vessel disease.Brain and behavior · 2023Article
- High frequency ofJournal of neurology, neurosurgery, and psychiatry · 2023Article
- LncRNA SERPINB9P1 expression and polymorphisms are associated with ischemic stroke in a Chinese Han population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Identification of Molecular Signatures and Candidate Drugs in Vascular Dementia by Bioinformatics Analyses.Frontiers in molecular neuroscience · 2022Article
- Review
- Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.Stroke · 2021Review
- Heritable and non-heritable uncommon causes of stroke.Journal of neurology · 2021Review
- Gene panel for Mendelian strokes.Stroke and vascular neurology · 2020Article
- Roadmap for Stroke: Challenging the Role of the Neuronal Extracellular Matrix.International journal of molecular sciences · 2020Review
- Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1.Neurology. Genetics · 2020Article
- Loss of the serine protease HTRA1 impairs smooth muscle cells maturation.Scientific reports · 2019Article
- How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology · 2019Article
- Genetics of stroke recovery: BDNF val66met polymorphism in stroke recovery and its interaction with aging.Neurobiology of disease · 2019Review
- Nucleic Acid Therapies for Ischemic Stroke.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke.Molecular neurobiology · 2019Review
- Cross-Reactivity as a Mechanism Linking Infections to Stroke.Frontiers in neurology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most stroke is multifactorial with multiple polygenic risk factors each conferring small increases in risk interacting with environmental risk factors, but it can also arise from mutations in a single gene. This review covers single-gene disorders which lead to stroke as a major phenotype, with a focus on those which cause cerebral small vessel disease (SVD), an area where there has been significant recent progress with findings that may inform us about the pathogenesis of SVD more broadly. We also discuss the impact that next generation sequencing technology (NGST) is likely to have on clinical practice in this area. The most common form of monogenic SVD is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, due to the mutations in the NOTCH3 gene. Several other inherited forms of SVD include cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy, collagen type IV α1 and α2 gene-related arteriopathy and FOXC1 deletion related arteriopathy. These monogenic forms of SVD, with overlapping clinical phenotypes, are beginning to provide insights into how the small arteries in the brain can be damaged and some of the mechanisms identified may also be relevant to more common sporadic SVD. Despite the discovery of these disorders, it is often challenging to clinically and radiologically distinguish between syndromes, while screening multiple genes for causative mutations that can be costly and time-consuming. The rapidly falling cost of NGST may allow quicker diagnosis of these rare causes of SVD, and can also identify previously unknown disease-causing variants.
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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.