ReviewNeurology2023
Genetic Causes of Cerebral Small Vessel Diseases: A Practical Guide for Neurologists.
Review in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- A Rare Case of Gould Syndrome Presenting With Gastrointestinal Bleeding in a Pediatric Patient.Cureus · 2026Article
- Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.Scientific reports · 2026Article
- Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study.Genes · 2026Article
- Meningeal lymphatic dysfunction in sporadic cerebral small vessel diseases and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by DCE-MRI.Quantitative imaging in medicine and surgery · 2025Article
- Blurred by a "Puff of Smoke"-A Case-Based Review on the Challenging Recognition of Coexisting CNS Demyelinating Disease and Moyamoya Angiopathy.International journal of molecular sciences · 2025Review
- CADASIL: A NOTCH3-associated cerebral small vessel disease.Journal of advanced research · 2024Review
- Intracerebral haemorrhage - mechanisms, diagnosis and prospects for treatment and prevention.Nature reviews. Neurology · 2024Review
- Exploring the Relationship Between Hypertension and Cerebral Microvascular Disease.Diseases (Basel, Switzerland) · 2024Review
- Increased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum.AJNR. American journal of neuroradiology · 2024Article
- Review
- Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network.Frontiers in neurology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral small vessel disease (CSVD) includes various entities affecting the brain and, often, systemic small arteries, arterioles, venules, and capillaries. The underlying causes of CSVD are different, and some of them are genetic. Monogenic CSVDs are responsible for 1%-5% of all strokes and for several other disturbances. Despite many genes being involved, the phenotypes of monogenic CSVD partly overlap. Given that the genetic testing for different diseases can be challenging and time-consuming, the practicing neurologist should be adequately informed of the genetic background of CSVD and should be able to select patients to undergo genetic assessment and the genes to be analyzed. The purpose of this review was to summarize clinical, neurologic and non-neurologic, and neuroimaging features of monogenic CSVD and to provide a flowchart to be used in clinical practice to guide neurologists in this field. The proposed flowchart and the relative tables can be applied to 3 different settings, depending on the presentation: (1) ischemic stroke and/or transient ischemic attack, (2) cerebral hemorrhage, and (3) other neurologic, non-neurologic, and/or neuroimaging features of monogenic CSVD, in the absence of stroke syndromes because of infarction or hemorrhage.
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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.