Genome-wide association studies found genetic variations with modulatory effects for intracranial aneurysm (IA) formations in European and Japanese populations. We aimed to identify the susceptibility of single nucleotide polymorphisms (SNPs) to IA in a Korean population consisting of 250 patients, and 294 controls using the Asian-specific Axiom Precision Medicine Research Array. Twenty-nine SNPs reached a genome-wide significance threshold (5 × 10⁻⁸). The rs371331393 SNP, with a stop-gain function of ARHGAP32 (11q24.3), showed the most significant association with the risk of IA (OR = 43.57, 95% CI: 21.84–86.95; p = 9.3 × 10⁻²⁷). Eight out of 29 SNPs—GBA (rs75822236), TCF24 (rs112859779), OLFML2A (rs79134766), ARHGAP32 (rs371331393), CD163L1 (rs138525217), CUL4A (rs74115822), LOC102724084 (rs75861150), and LRRC3 (rs116969723)—demonstrated sufficient statistical power greater than or equal to 0.8. Two previously reported SNPs, rs700651 (BOLL, 2q33.1) and rs6841581 (EDNRA, 4q31.22), were validated in our GWAS (Genome-wide association study). In a subsequent analysis, three SNPs showed a significant difference in expressions: the rs6741819 (RNF144A, 2p25.1) was down-regulated in the adrenal gland tissue (p = 1.5 × 10⁻⁶), the rs1052270 (TMOD1. 9q22.33) was up-regulated in the testis tissue (p = 8.6 × 10⁻¹⁰), and rs6841581 (EDNRA, 4q31.22) was up-regulated in both the esophagus (p = 5.2 × 10⁻¹²) and skin tissues (1.2 × 10⁻⁶). Our GWAS showed novel candidate genes with Korean-specific variations in IA formations. Large population based studies are thus warranted.

Background: There is still controversy regarding which procedure-related factors affect the occurrence of periprocedural thromboembolism. This study aimed to investigate which procedure-related risk factors can be modified to prevent adverse thromboembolic events after coil embolization of intracranial aneurysm. Methods: Using a single-center database, we retrospectively identified a consecutive series of patients with symptomatic and asymptomatic cerebral aneurysms treated with coil embolization. We evaluated the following procedure-related factors: procedure time, procedure methods (simple coiling, stent-assisted coiling, and use of multiple microcatheters), and number of coils inserted. The primary outcome was the development of thromboembolism before and after coil embolization confirmed by diffusion-weighted imaging (DWI) irrespective of the location of the procedure. Pearson's chi-square, Student's t-test, multivariable logistic regression analysis, and sensitivity analysis with multinomial logistic regression analysis were used in the statistical analyses. Results: Of 180 cases enrolled, 146 (81.1%) had evidences of thromboembolism confirmed by DWI, and 13 (7.2%) had neurologic symptoms. Among the documented modifiable procedure-related factors, every 10 min increase in the procedure time was independently associated with the risk of thromboembolism, after adjusting the analysis (adjusted odds ratio 1.11; 95% confidence interval 1.01–1.21). The coiling methods, use of multiple catheters, and number of coils inserted did not change the effect of the procedure time on thromboembolic events (p for interactions > 0.05). Conclusion: This study showed that the procedure time might be the most effective modifiable factor for reducing thromboembolic events irrespective of the procedure methods used during coil embolization of cerebral aneurysms.

Objective: Cervicogenic headache has been known to originate from the convergence of the upper three cervical and trigeminal afferents. The administration of conservative treatments, interventional procedures, and more recently, pulsed radiofrequency, have been employed to relieve cervicogenic headache. In this study, we aimed to evaluate the clinical efficacy and safety of pulsed radiofrequency targeting the mid-cervical medial branches. Methods: From September 2012 until December 2017, 395 patients were diagnosed with cervicogenic headache based on the 3^rd edition of the International Classification of Headache Disorders. We treated them conservatively at first, and those patients with non-resolution of pain were treated with mid-cervical medial branches block applied from C3 to C5 twice. Subsequently, if any patient continued to experience persistent pain, we classified them as having intractable cervicogenic headache and performed pulsed radiofrequency treatment targeting the mid-cervical medial branches from C3 to C5 bilaterally. We analyzed their demographics and used a visual analog scale (VAS) to assess their pain for 12 months. Results: Fifty-seven patients were enrolled in this study. The mean age was 49.8 years, and the mean duration of symptoms was 47.7 months. The mean VAS score was 6.21 before pulsed radiofrequency treatment, and it improved to 1.54 immediately following procedure without the symptoms recurring for a minimum of 12 months. There were no severe complications, such as vascular or nerve injuries. Conclusions: In patients with intractable cervicogenic headache, pulsed radiofrequency treatment targeting the mid-cervical medial branches resulted in a satisfactory, long-lasting outcome without serious complications.

Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data. This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS. The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation. No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.

Kim DS, et al. J Korean Neurosurg Soc. 2015 Aug;58(2):131-136. http://dx.doi.org/10.3340/jkns.2015.58.2.131

A 66-year-old man presented with typical trigeminal neuralgia (TN). Magnetic resonance angiography (MRA) revealed a primitive trigeminal artery (PTA) that came into contact with the trigeminal nerve. Based on MRA, we performed microvascular decompression (MVD). In the operational field, we confirmed the PTA location and performed MVD successfully. Postoperatively, the patient's pain subsided without any complications.