ArticleCNS neuroscience & therapeutics2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Article in CNS neuroscience & therapeutics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Genotype-Misphenotype Study.Neurology. Genetics · 2026Article
- Article
- Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL.Annals of clinical and translational neurology · 2026Article
- Holmes Tremor in CADASIL Responsive to Multi-Targeting Deep Brain Stimulation (DBS): An Educational Case with Video and Electrophysiology.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.Brain and behavior · 2025Article
- Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.Alzheimer's research & therapy · 2025Article
- Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.The journal of headache and pain · 2025Review
- Inducing mononuclear cells of patients with CADASIL to construct a CSVD disease model.European journal of medical research · 2025Article
- Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.European journal of neurology · 2025Observational
- Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.Frontiers in neurology · 2025Review
- Article
- Family Lore, a Variant of Uncertain Significance, and CADASIL.American journal of medical genetics. Part C, Seminars in medical genetics · 2024Article
- Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.Molecular biology reports · 2024Article
- Article
- First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.BMC neurology · 2024Review
- The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts.Neurology · 2023Article
- Headache andNeurology international · 2023Article
- Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.Annals of clinical and translational neurology · 2023Article
- Bibliometric Analysis of Research on Migraine-Stroke Association from 2013 to 2023.Journal of pain research · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively common cerebral small vessel disease. NOTCH3 has been identified as the causative gene of CADASIL. Clinical variability and genetic heterogeneity were observed in CADASIL patients and need to be further clarified.
aimsThe aim of the study was to clarify genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients.
methodsSuspected CADASIL patients were collected by our center between 2016 and 2021. Whole exome sequencing was performed to screen NOTCH3 mutations of these patients. Genetic and clinical data of CADASIL patients from previous studies were also analyzed. Studies between 1998 and 2021 that reported more than 9 pedigrees with detailed genetic data or clinical data were included. After excluding patients carrying cysteine-sparing mutations, genetic data of 855 Asian pedigrees (433 Chinese; 226 Japanese, and 196 Korean) and 546 Caucasian pedigrees, in a total of 1401 CADASIL pedigrees were involved in mapping mutation spectrum. Clinical data of 901 Asian patients (476 Chinese patients, 217 Japanese patients, and 208 Korean patients) and 720 Caucasian patients, in a total of 1621 patients were analyzed and compared between different populations.
resultsTwo novel mutations (c.400T>C, p.Cys134Arg; c.1511G>A, p.Cys504Tyr) and 24 known cysteine-affecting variants were identified in 36 pedigrees. Genetic spectrums of Asians (Chinese, Japanese, and Korean) and Caucasians were clarified, p.R544C and p.R607C were the most common mutations in Asians while p.R1006C and p.R141C in Caucasians. For clinical features, Asians were more likely to develop symptoms of TIA or ischemic stroke (p < 0.0001) and cognitive impairment (p < 0.0001). Nevertheless, Caucasians had a higher tendency to present migraine (p < 0.0001) and psychiatric disturbance (p < 0.0001). The involvement of temporal pole was more likely to happen in Caucasians (p < 0.0001).
conclusionThe findings help to better understand the clinical variability and genetic heterogeneity of CADASIL.
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