The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

Xiao, Liu; Zuo, Yuehuan; Sun, Wei; Zhang, Wei; Lv, He; Huang, Yining; Xiao, Jiangxi; Yuan, Yun; Wang, Zhaoxia

doi:10.1016/j.jns.2015.04.047

Cited by 42 publications

(35 citation statements)

References 24 publications

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“…According to Rutten JW et al., individuals with a mutation located in EGFR 1–6 are predisposed to have more severe CADASIL phenotype, whereas individuals with a mutation outside of EGFR 1–6 can remain asymptomatic for a longer time . Nonetheless, a recent report in mainland Chinese failed to confirm a significant difference in age at onset between exons . Fortunately, our research, together with a previous research by Liao et al .…”

Section: Discussioncontrasting

confidence: 76%

“…Moreover, we discovered a variation of mutation spectrum compared with previous reports, even in the same race . In Caucasian, Japanese, and Northern Chinese populations, the NOTCH3 mutations were previously revealed to cluster in exon 2 to 6, especially in exon 4 .…”

Section: Discussionsupporting

confidence: 48%

“…[4][5][6] Studies in northern Chinese population were consistent with these findings. 7,8 Nevertheless, studies conducted in another Han Chinese population revealed that mutations located in exon 11 might be more frequent in southeast China and p.Arg544Cys mutation might be a "hot spot." 9,10 Additionally, founder effect has been described in several studies of CADASIL, 9,11 which might be one of the reasons leading to different mutation spectrum.…”

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confidence: 99%

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Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

et al. 2017

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Section: Discussioncontrasting

confidence: 76%

Section: Discussionsupporting

confidence: 48%

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confidence: 99%

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Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

et al. 2017

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“…[12] Pathological changes include deposition of granular osmiophilic material on the surface of smooth muscle cells with subsequent fibrosis in the wall of arterioles. [3] Clinical manifestations of CADASIL include migraine with aura, subcortical ischemic events, mood disturbances, apathy, and cognitive impairment.…”

Section: Introductionmentioning

confidence: 99%

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Fang

et al. 2017

Chinese Medical Journal

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Background:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MRI) findings.Methods:Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First Hospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microbleeds were evaluated. All patients and controls underwent EDI-OCT to measure subfoveal choroidal thickness (SFCT), inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner (AVRin) and outer diameters (AVRout). The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman's correlation was used to investigate the correlation between retinal vessel changes and MRI lesions.Results:In CADASIL patients, mean SFCT (268.37 ± 46.50 μm) and mean arterial inner diameter (93.46 ± 9.70 μm) were significantly lower than that in controls (P < 0.001, P = 0.048, respectively). Mean arterial outer diameter (131.74 ± 10.87 μm), venous inner (128.99 ± 13.62 μm) and outer diameter (164.82 ± 14.77 μm), and mean arterial (19.13 ± 1.85 μm) and venous (17.91 ± 2.76 μm) wall thickness were significantly higher than that in controls (P = 0.023, P = 0.004, P < 0.001, P < 0.001, respectively). Arterial inner diameter (rs= −0.39, P = 0.044), AVRin (rs= −0.65, P < 0.001), and AVRout (rs= −0.56, P = 0.002) showed a negative correlation with the number of small infarcts. Venous inner diameter (rs = 0.46, P = 0.016) showed a positive correlation with the number of small infarcts. Venous inner diameter (rs = 0.59, P = 0.002), outer diameter (rs = 0.47, P = 0.017), showed a positive correlation with the number of cerebral microbleeds (CMBs). AVRin (rs= −0.52, P = 0.007) and AVRout (rs= −0.40, P = 0.048) showed a negative correlation with the number of CMBs.Conclusions:Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might be a useful evaluation tool for CADASIL patients.

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“…In humans, mutations in Notch ligands or receptors are associated with various diseases; for example, JAG1 and Notch2 mutations are associated with Alagille syndrome (14), and Notch3 mutations with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (15). Human genetic diseases and mutant mouse models have demonstrated the importance of Notch signaling in the development and remodeling of intrahepatic bile ducts (IHBD).…”

Section: Mutation Of Notch-associated Genesmentioning

confidence: 99%

Oncogenic role of the Notch pathway in primary liver cancer

et al. 2016

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Abstract. Primary liver cancer, which includes hepatocellular carcinoma (HCC), intrahepatic cholangiocarcinoma (ICC) and fibrolamellar HCC, is one of the most common malignancies and the third leading cause of cancer-associated mortality, worldwide. Despite the development of novel therapies, the prognosis of liver cancer patients remains extremely poor. Thus, investigation of the genetic background and molecular mechanisms underlying the development and progression of this disease has gained significant attention. The Notch signaling pathway is a crucial determinant of cell fate during development and disease in several organs. In the liver, Notch signaling is involved in biliary tree development and tubulogenesis, and is also significant in the development of HCC and ICC. These findings suggest that the modulation of Notch pathway activity may have therapeutic relevance. The present review summarizes Notch signaling during HCC and ICC development and discusses the findings of recent studies regarding Notch expression, which reveal novel insights into its function in liver cancer progression.

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The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

Cited by 42 publications

References 24 publications

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Oncogenic role of the Notch pathway in primary liver cancer

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