Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study

Ospina, Carolina; Arboleda‐Velásquez, Joseph F.; Aguirre–Acevedo, Daniel Camilo; Zuluaga‐Castaño, Yesica; Velilla, Lina; García, Gloria; Quiroz, Yakeel T.; Lopera, Francisco

doi:10.1016/j.jns.2020.117178

Cited by 5 publications

(5 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…53 Notably, there are two conditions in which traditional vascular risk factors still play an important role in stroke attacks, one in patients with CADASIL and the other in pregnant patients with migraine headaches. Smoking and diabetes are associated with earlier stroke in CADASIL, 57,58 while hypertension increases the risk of stroke and cognitive decline in CADASIL. 59,60 Risk factors such as high blood pressure, diabetes, and smoking are more prevalent in pregnant women with migraines, increasing the risk of ischemic stroke.…”

Section: Risk Factors and Cardiovascular Diseasementioning

confidence: 97%

“…123 CADASIL phenotypes vary widely in different populations, affected by genetics and other factors (eg, diabetes mellitus). 58 A study demonstrated differences in CADASIL between Asian and Caucasian populations by analyzing genetic spectrum and clinical data. Asians were found to be most commonly affected by the R544C and R607C mutations, with clinical manifestations more prone to cerebral ischemic events and cognitive impairment.…”

Section: Dovepressmentioning

confidence: 99%

See 1 more Smart Citation

Bibliometric Analysis of Research on Migraine-Stroke Association from 2013 to 2023

Zhang,

Zhou

et al. 2023

JPR

View full text Add to dashboard Cite

Background Both migraine and stroke heavily burden individuals, health systems, and society. The migraine-stroke association is of concern and has been studied widely. Our objective is to explore and overview the current research status and emerging trends. Materials and Methods Studies on migraine-stroke association from January 2013 to May 2023 were retrieved and screened from the Web of Science Core Collection (WOSCC) database. Records fulfilling the selection criteria were downloaded and imported into CiteSpace for data mining and visualization. Results A total of 862 papers on migraine-stroke association were included. Annual publications grew slowly. The United States and European countries dominated research in this area. Harvard University published the largest number of articles, while the University of London was most active with other institutions. Ayata Cenk contributed the most articles, while KURTH T and NEUROLOGY were co-cited most. Research hotspots included migraine with aura, ischemic stroke, patent foramen ovale, cortical spreading depolarization, meta-analysis, cross-sectional study, and risk factors. Pathophysiology and small vessel disease represented research frontiers and emerging trends. Conclusion Our study scientifically outlines the migraine-stroke association over the past decade, presenting useful information.

show abstract

Section: Risk Factors and Cardiovascular Diseasementioning

confidence: 97%

Section: Dovepressmentioning

confidence: 99%

Bibliometric Analysis of Research on Migraine-Stroke Association from 2013 to 2023

Zhang,

Zhou

et al. 2023

JPR

View full text Add to dashboard Cite

show abstract

“…36 In contrast, in line with the European Academy of Neurology consensus statement, 37 standard preventive prescription of statins seems not to be indicated in patients with CADASIL with normal lipid levels, as hypercholesterolemia has never been found to be associated with any of the CADASIL outcome measures, a finding which we corroborate in this study. 6,7,[9][10][11][12][14][15][16][17]33,34 However, statin therapy is not contraindicated in patients with CADA-SIL, and statins can be prescribed for other indications such as coronary artery disease.…”

Section: Relative Contribution Of Egfr Group Sex and Cardiovascular R...mentioning

confidence: 99%

“…Next to NOTCH3 cys EGFr group, cardiovascular risk factors (CVRF) [8][9][10][11][12][13][14][15][16][17] and sex 10,12,13,15 have been shown to modulate CADASIL disease severity. However, the relative impact of the various modifiers is unknown, as EGFr group has never been included in studies addressing CADASIL disease modifiers.…”

mentioning

confidence: 99%

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes

Hack

Cerfontaine

Gravesteijn

et al. 2022

Stroke

View full text Add to dashboard Cite

Background: A retrospective study has shown that EGFr (epidermal growth factor–like repeat) group in the NOTCH3 gene is an important cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) disease modifier of age at first stroke and white matter hyperintensity (WMH) volume. No study has yet assessed the effect of other known CADASIL modifiers, that is, cardiovascular risk factors and sex, in the context of NOTCH3 EGFr group. In this study, we determined the relative disease-modifying effects of NOTCH3 EGFr group, sex and cardiovascular risk factor on disease severity in the first genotype-driven, large prospective CADASIL cohort study, using a comprehensive battery of CADASIL clinical outcomes and neuroimaging markers. Methods: Patients with CADASIL participated in a single-center, prospective cohort study (DiViNAS [Disease Variability in NOTCH3 Associated Small Vessel Disease]) between 2017 and 2020. The study protocol included a clinical assessment, neuropsychological test battery and brain magnetic resonance imaging on a single research day. Multivariable linear, logistic and Cox regression models were used to cross-sectionally assess the effect of CADASIL modifiers on clinical severity (stroke, disability, processing speed) and neuroimaging markers (WMH volume, peak width of skeletonized mean diffusivity, lacune volume, brain volume, cerebral microbleed count). Results: Two hundred patients with CADASIL participated, of which 103 harbored a NOTCH3 EGFr 1–6 variant and 97 an EGFr 7–34 variant. NOTCH3 EGFr 1–6 group was the most important modifier of age at first stroke (hazard ratio, 2.45 [95% CI, 1.39–4.31]; P =0.002), lacune volume (odds ratio, 4.31 [95% CI, 2.31–8.04]; P =4.0×10 -6 ), WMH volume (B=0.81 [95% CI, 0.60–1.02]; P =1.1×10 -12 ), and peak width of skeletonized mean diffusivity (B=0.65 [95% CI, 0.44–0.87]; P =1.6×10 -8 ). EGFr 1–6 patients had a significantly higher WMH volume in the anterior temporal lobes and superior frontal gyri and a higher burden of enlarged perivascular spaces. After NOTCH3 EGFr group, male sex and hypertension were the next most important modifiers of clinical outcomes and neuroimaging markers. Conclusions: NOTCH3 EGFr group is the most important CADASIL disease modifier not only for age at first stroke and WMH volume but also strikingly so for a whole battery of clinically relevant disease measures such as lacune volume and peak width of skeletonized mean diffusivity. NOTCH3 EGFr group is followed in importance by sex, hypertension, diabetes, and smoking.

show abstract

“…The second most frequent symptom is cognitive decline, which accounts for 60% of CADASIL patients [ 29 ]. The prevalence of dementia varied according to the ancestry: Korea (15%, 18.5%, and 43%) [ 17 , 22 , 32 ], Taiwan (4.8%, and 41.1%) [ 16 , 30 ], mainland China (11.3%) [ 31 ], Japan (31%) [ 19 ], the UK (2.1% and 16%) [ 10 , 24 ], and the United States (5.7% and 15.6%) [ 33 , 34 ]. Given these distributions, it is thought that this difference is determined by the presence of a particular gene mutation rather than by the ancestry.…”

Section: Genotype and Phenotype Differences Between Asians And Patien...mentioning

confidence: 99%

Genotype and Phenotype Differences in CADASIL from an Asian Perspective

Kim

Bae

Lee

et al. 2022

IJMS

View full text Add to dashboard Cite

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small-vessel disease caused by mutations in the NOTCH3 gene. Classical pathogenic mechanisms are associated with cysteine gain or loss, but recent studies suggest that cysteine-sparing mutations might have a potential role as a pathogen. In comparison with CADASIL patients in Western countries, there are several differences in Asian patients: (1) prevalent locus of NOTCH3 mutations (exons 2–6 [particularly exon 4] vs. exon 11), (2) age at symptom onset, (3) prevalence of cerebral microbleeds and hemorrhagic stroke, (4) clinical symptoms, and (5) severity of white matter hyperintensities and typical involvement of the anterior temporal pole in magnetic resonance imaging. Both ethnicity and founder effects contribute to these differences in the clinical NOTCH3 spectrum in different cohorts. More functional investigations from diverse races are needed to clarify unknown but novel variants of NOTCH3 mutations. This review may broaden the spectrum of NOTCH3 variants from an Asian perspective and draw attention to the hidden pathogenic roles of NOTCH3 variants.

show abstract

Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study

Cited by 5 publications

References 39 publications

Bibliometric Analysis of Research on Migraine-Stroke Association from 2013 to 2023

Bibliometric Analysis of Research on Migraine-Stroke Association from 2013 to 2023

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes

Genotype and Phenotype Differences in CADASIL from an Asian Perspective

Contact Info

Product

Resources

About