scholarly journals The association between the ring finger protein 213 gene R4810K variant and intracranial major artery stenosis/occlusion in the Han Chinese population and high-resolution magnetic resonance imaging findings

2018 ◽  
Vol 4 (1) ◽  
pp. 33 ◽  
Author(s):  
Haiqing Song ◽  
Sufang Xue ◽  
Weiyang Cheng ◽  
Wanqian Wang ◽  
Xiaowei Song ◽  
...  
Stroke ◽  
2020 ◽  
Vol 51 (8) ◽  
pp. 2495-2504 ◽  
Author(s):  
Hyung Jun Kim ◽  
Eun-Hyeok Choi ◽  
Jong-Won Chung ◽  
Jae-Hwan Kim ◽  
Ye Sel Kim ◽  
...  

Background and Purpose: Luminal imaging (degree of stenosis) currently serves as the gold standard to predict stroke recurrence and guide therapeutic strategies in patients with intracranial large artery diseases (ILADs). We comparatively evaluated the importance of vessel wall and luminal changes in predicting stroke occurrence. Methods: Consecutive patients with ILAD in the proximal middle cerebral artery or distal internal carotid artery without proximal sources of embolism from the carotid and heart underwent time-of-flight magnetic resonance angiography, high-resolution magnetic resonance imaging, and the ring finger protein 213 ( RNF213 ) gene variant test. Patients were followed up for >3 months. Results: Of the 675 patients, 241 (35.7%) had atherosclerotic ILAD and 434 (64.3%) showed nonatherosclerotic ILAD (315 [46.7%] moyamoya disease cases and 119 [17.6%] dissection cases). The RNF213 variant was detected in 74.9%, 33.6%, and 3.4% patients with moyamoya disease, atherosclerosis, and dissection, respectively. Three hundred (44.4%) patients had asymptomatic ILAD, whereas 375 (55.6%) patients had symptomatic ILAD. Multivariate analysis showed that vessel enhancement and etiological subtypes, not degree of stenosis, determined by high-resolution magnetic resonance imaging and RNF213 gene variant analysis were independently associated with symptomatic ILAD. The presence of the RNF213 variant was also independently associated with recurrent cerebrovascular events. Conclusions: This study demonstrates the prevalence of nonatherosclerotic ILAD in East Asian patients with ILAD. Unlike luminal changes, wall changes determined by high-resolution magnetic resonance imaging and presence of the RNF213 variant could predict stroke occurrence in patients with ILADs.


Neurosurgery ◽  
2016 ◽  
Vol 63 ◽  
pp. 188 ◽  
Author(s):  
C. Rory Goodwin ◽  
Benjamin Northcutt ◽  
Daniel Seeburg ◽  
Jaehoon Shin ◽  
Debebe Theodros ◽  
...  

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Hyung Jun Kim ◽  
Eun‐Hyeok Choi ◽  
Jong‐Won Chung ◽  
Jae‐Hwan Kim ◽  
Ye Sel Kim ◽  
...  

Background The RNF213 ( ring finger protein 213 gene) variant R4810K is a susceptibility allele not only for Moyamoya disease (MMD) but also for intracranial atherosclerosis (ICAS) in East Asian populations. We hypothesized that this variant would affect the distribution of ICAS and recurrence of cerebrovascular events. Methods and Results We conducted a prospective study of patients with ICAS and MMD using high‐resolution magnetic resonance imaging and RNF213 R4810K genotyping. Patients were included in the ICAS group when relevant plaques existed on high‐resolution magnetic resonance imagingand in the MMD group when they carried the variant and high‐resolution magnetic resonance imaging showed no plaques but characteristic features of MMD. We compared clinical and neuroimaging features of patients with ICAS‐ RNF213 + with patients with ICAS‐ RNF213 − and of patients with MMD. Of 477 patients, 238 patients were in the ICAS group and 239 were in the MMD group. Among patients with ICAS, 79 patients (33.2%) were in the ICAS‐ RNF213 + group and 159 (66.8%) in the ICAS‐ RNF213 − group. Tandem lesions were significantly more common in the ICAS‐ RNF213+ group than in the ICAS‐ RNF213 − group (40.3% versus 72.2%, P <0.001), and their distributions were similar between the ICAS‐ RNF213+ and MMD groups. The presence of the R4810K variant (hazard ratio [HR], 3.203; 95% CI, 1.149–9.459; P =0.026) and tandem lesions (≥3) (HR, 8.315; 95% CI, 1.930–39.607; P =0.005) were independently associated with recurrent cerebrovascular events. Conclusions Patients with ICAS carrying the RNF213 R4810K variant showed clinical and imaging features distinct from patients with ICAS without the variant, suggesting that the R4810K variant plays a role in intracranial atherosclerosis in East Asian patients.


Author(s):  
Alan P. Koretsky ◽  
Afonso Costa e Silva ◽  
Yi-Jen Lin

Magnetic resonance imaging (MRI) has become established as an important imaging modality for the clinical management of disease. This is primarily due to the great tissue contrast inherent in magnetic resonance images of normal and diseased organs. Due to the wide availability of high field magnets and the ability to generate large and rapidly switched magnetic field gradients there is growing interest in applying high resolution MRI to obtain microscopic information. This symposium on MRI microscopy highlights new developments that are leading to increased resolution. The application of high resolution MRI to significant problems in developmental biology and cancer biology will illustrate the potential of these techniques.In combination with a growing interest in obtaining high resolution MRI there is also a growing interest in obtaining functional information from MRI. The great success of MRI in clinical applications is due to the inherent contrast obtained from different tissues leading to anatomical information.


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