ReviewJournal of advanced research2024
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Review in Journal of advanced research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Cerebral blood flow, autoregulation and vascular reactivity in normal pressure hydrocephalus: a systematic review.Fluids and barriers of the CNS · 2025Pooled it
- Review
- Impairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL.Brain : a journal of neurology · 2026Article
- MRI markers of brain fluid dynamics link reduced blood-brain barrier water exchange rate to disease severity in CADASIL.European stroke journal · 2026Article
- Genetic Insights Into Cryptogenic Stroke: From Etiologic Heterogeneity to Clinical Translation.Journal of stroke · 2026Review
- The enigma of vascular dementia: current state and emerging perspectives.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Cerebral small vessel disease: pearls and pitfalls from unexplored risk factors to treatment.Arquivos de neuro-psiquiatria · 2026Review
- Unexpected widespread amyloid PET positivity in a patient with CADASIL.Journal of neurology · 2026Article
- Experimental models of cerebral small vessel disease: Physiological constraints, translational challenges and future directions.The Journal of physiology · 2026Review
- Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review.Medicine · 2026Review
- Kimura's Disease Complicated by Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Case Report and Review of the Literature.The neurologist · 2026Review
- Identification of a Prognostic Gene Signature for Chemoresistance Prediction in Lung Adenocarcinoma by Screening Mitochondrial Metabolism Gene Sets.International journal of molecular sciences · 2026Article
- NOTCH3 Mutations in CADASIL: a multicellular perspective on neurodegeneration.Cell communication and signaling : CCS · 2026Review
- Targeting the Sleep-Glymphatic-Vascular Continuum in Cerebral Small Vessel Disease: A Nutritional Perspective on Neuroprotective Potential of Tocotrienols (T3).Life (Basel, Switzerland) · 2026Review
- Article
- Persistent vessel wall enhancement and progression of cerebral microbleeds in CADASIL: a case report.Frontiers in radiology · 2026Article
- Interaction Between Age and the NOTCH3 p.R544C Variant in Determining Ischemic Stroke Risk: Insights from the Taiwan Biobank Study of 8,588 Patients.International journal of medical sciences · 2026Article
- Advances in genetics and multi-omics for ischemic stroke: from pathogenesis to clinical translation.Frontiers in genetics · 2026Review
- Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Novel Mutation ofBalkan journal of medical genetics : BJMG · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD), pathologically characterized by a non-atherosclerotic and non-amyloid diffuse angiopathy primarily involving small to medium-sized penetrating arteries and leptomeningeal arteries. In 1996, mutation in the notch receptor 3 gene (NOTCH3) was identified as the cause of CADASIL. However, since that time other genetic CSVDs have been described, including the HtrA serine peptidase 1 gene-associated CSVD and the cathepsin A gene-associated CSVD, that clinically mimic the original phenotype. Though NOTCH3-associated CSVD is now a well-recognized hereditary disorder and the number of studies investigating this disease is increasing, the role of NOTCH3 in the pathogenesis of CADASIL remains elusive. AIM OF REVIEW: This review aims to provide insights into the pathogenesis and the diagnosis of hereditary CSVDs, as well as personalized therapy, predictive approach, and targeted prevention. In this review, we summarize the current progress in CADASIL, including the clinical, neuroimaging, pathological, genetic, diagnostic, and therapeutic aspects, as well as differential diagnosis, in which the role of NOTCH3 mutations is highlighted. KEY SCIENTIFIC CONCEPTS OF REVIEW: In this review, CADASIL is revisited as a NOTCH3-associated CSVD along with other hereditary CSVDs.
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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.