Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) were independently described in clinical and pathological details more than a century ago. Recent breakthrough discoveries identifying common genes that are causal to either ALS or FTD or an overlapping ALS-FTD syndrome have dramatically transformed our view regarding their pathogenesis. Most recently, a massive hexanucleotide (GGGGCC) repeat expansion mutation in C9orf72 gene has been linked to the majority of familial ALS, FTD and mixed ALS-FTD cases. C9orf72 and other genes causal to ALS and FTD are consistently associated with the formation of cellular RNA inclusions and protein aggregates. This article summarizes the recently reported ALS-FTD-linked genes and the emerging common unifying mechanism in the pathogenesis of ALS-FTD spectrum disorders along with a comment on the potential new therapeutic targets in these hitherto incurable diseases.

Background: Since the end of last century, technology has taken a front seat in dispersion of medical education. Advancements of technology in neurosurgery and traditional training methods are now being challenged by legal and ethical concerns of patient safety, resident work-hour restriction and cost of operating-room time. To supplement the existing neurosurgery education pattern, various e-learning platforms are introduced as structured, interactive learning system. Materials and Methods: This study focuses on the concept, formulation, development and impact of web based learning platforms dedicated to neurosurgery discipline to disseminate education, supplement surgical knowledge and improve skills of neurosurgeons. 'Neurosurgery Education and Training School (NETS), e-learning platform' has integration of web-based technologies like 'Content Management System' for organizing the education material and 'Learning Management System' for updating neurosurgeons. NETS discussion forum networks neurosurgeons, neuroscientists and neuro-technologists across the globe facilitating collaborative translational research. Results: Multi-authored neurosurgical e-learning material supplements the deficiencies of regular time-bound education. Interactive open-source, global, free-access e-learning platform of NETS has around 1) 425 visitors/month from 73 countries; ratio of new visitors to returning visitors 42.3; 57.7 (2); 64,380 views from 190 subscribers for surgical videos, 3-D animation, graphics based training modules (3); average 402 views per post. Conclusion: The e-Learning platforms provide updated educational content that make them "quick, surf, find and extract" resources. e-Learning tools like web-based education, social interactive platform and question-answer forum will save unnecessary expenditure of time and travel of neurosurgeons seeking knowledge. The need for free access platforms is more pronounced for the neurosurgeons and patients in developing nations.

Aims: The aim of this study was to evaluate the feasibility of characterizing the brain-mineral deposition in patients with Wilson disease (WD) using susceptibility-weighted imaging (SWI). Materials and Methods: The study enrolled 30 WD patients and 20 age-matched healthy controls. Neurological symptoms were scored using the modified Young Scale. The hepatic function indices, serum and urinary copper content, and serum iron content were determined. All study objects received the magnetic resonance imaging (MRI) and SWI test of the brain. The values of corrected phase (CP) were calculated on SWI. The relationship between CP values and the clinical status were evaluated. Results: The serum iron content of WD patients was higher than the normal. The CP values of substantia nigra, caudate nucleus, and globus pallidus of WD were lower than the normal values, while the CP value of substantia nigra was the lowest. No correlations were determined between the CP values and the iron and copper parameters. There was negative correlation between the scores of dysarthria and the CP values of the globus pallidus. There was negative correlation between the scores of tremor and the CP values of caudate nucleus. Some regions, which had high signals on T2-weighted image, had low signals on SWI. Conclusions: There might be abnormal iron metabolism in patients with WD. The decreased CP values might reflect a deposition of both copper and iron. SWI may be more sensitive than the ordinary MRI. The mineral deposition may contribute to the neural symptoms.

Purpose: To summarize our experience in treating patients with spinal angiolipomas. Materials and Methods: We conducted a retrospective review of the case records of patients with spinal angiolipoma who underwent surgery between March 1992 and March 2013. Results: Of the 12 patients seen during the study period, 10 patients had total removal of the lesion and 2 patients had sub-total removal. The postoperative course was uneventful, and the outcomes were good in patients who underwent total excision of the lesion. No patient received adjuvant radiation even in the patients with sub-total excision. Conclusion: In patients with spinal angiolipoma, total excision should be achieved and is associated with good outcomes.

Background and Purpose: This study aimed to investigate the efficacy and safety of balloon dilatation and thrombus extraction for the treatment of cerebral venous sinus thrombosis (CVST). Materials and Methods: Twenty-six cases of digital subtraction angiography-confirmed CVST were treated with balloon dilatation and thrombus extraction. Active treatment of primary disease was carried out after cerebral venous sinus recanalization, and the subsequent anticoagulant therapy lasted for 6 months. Results: Recanalization of the cerebral venous sinus was achieved in all 26 patients, and no endovascular treatment-related complications occurred during or after the procedure. At discharge, the Glasgow Coma Scale (GCS) of the patients had improved from an average of 12.3 points to 15 points, and clinical symptoms were improved in 100% of the patients. Follow-up times ranged from 12-62 months (mean follow-up time of 42.3 months) and no thrombus re-formation or new neurological deficits occurred during that time. Conclusion: Based on our small study population, balloon dilatation and thrombus extraction appears to be a safe and effective treatment for cerebral venous sinus thrombosis. However, further research is needed to confirm this.

Background: Meningiomas are benign central nervous system tumors; however, significant fraction recurs, irrespective of histological grade. Materials and Methods: We performed fluorescence in-situ hybridization for 1p36 and 14q32, and immunohistochemistry for progesterone receptor (PR), p53 and MIB-1 on 84 meningiomas. Results and Conclusion: Sixty-four were convexity tumors (30 grade I, 21 grade II, 13 grade III) and 20 petroclival (grade I; 10 with gross total resection (GTR), 10 with subtotal resection (STR)). Isolated 1p36 deletion was seen in 20% grade I, 28.6% grade II and 30.8% grade III convexity meningiomas, and isolated 14q deletion in one grade III convexity tumor. 1p/14q co-deletion was seen in none of grade I, 28.5% grade II and 30% grade III convexity meningiomas. PR immunoreactivity was less frequent in grade III tumors. Petroclival tumors did not show isolated deletion. However, 1p/14q co-deletion was seen in 20% of petroclival tumors with STR and in none with GTR. Frequency of chromosomal alterations and MIB-1 labeling index both increase with tumor grade. 1p/14q co-deletion is characteristic of grade II/III meningiomas, while PR immunoreactivity inversely correlates with grade, suggesting their use as surrogate markers for grading. Identification of 1p/14q co-deletion in grade I petroclival tumors with STR suggests that unresectable petroclival meningiomas are biologically more aggressive than their grade I convexity counterparts.

Aims and objectives: To study the histopathological features with particular emphasis on perineural invasion in invasive rhinocerebral mucormycosis. Materials and Methods: Tissue sections from 30 patients with invasive rhinocerebral mucormycosis were included in the study. Demographic features, predisposing conditions, and clinical features were obtained from medical records. Tissue sections were reviewed with hematoxylin and eosin (H and E), Gomori's methenamine silver (GMS), and periodic acid Schiff (PAS) stains for (i) the presence and type of inflammation (suppurative/granulomatous; sparse/absent), (ii) invasion into soft tissues, and (iii) type of spread (angio/perineural) and presence of infarction/necrosis and fungal morphology. Results: The study material included 20 males and 10 females with age ranging from 15-84 years. The clinical syndromes included rhino-orbital in 15, rhinocerebral in 6, and rhino-orbito-cerebral in 9 patients. On histopathological examination, inflammation was suppurative with predominance of neutrophils in 25 biopsies. Suppurating granuloma with neutrophils, lymphocytes, and foreign body giant cells was seen in 3 biopsies. Invasion into soft tissues, muscles, and adipose tissues was seen in 20 biopsies. Angioinvasion was noted in 25 and soft tissue invasion in 20 biopsies. Peripheral nerves were identified in 19 and perineural spread was identified in 15 biopsies. In all, biopsies with perineural invasion, angioinvasion, and soft tissue invasion were seen. Conclusions: Perineural invasion is one of the important histological features of invasive rhinocerebral mucormycosis and it indicates advanced the extent of invasion.

Background: CCL11 (Eotaxin-1) is an important inflammatory cytokine belonging to the CC family of chemokines associated with a number of infection or inflammation-related diseases such as atherosclerosis and stroke. We investigated the association of CCL11 gene polymorphism rs4795895-1382A>G with ischemic and hemorrhagic stroke. Materials and Methods: Six hundred and twenty ischemic stroke patients, 620 age- and sex-matched healthy controls, and 220 hemorrhagic stroke patients, 220 age- and sex-matched healthy controls were included in the present study. The CCL11 gene polymorphism rs4795895-1382A>G was determined using PCR-RFLP technique. Results: We found a statistically significant difference in the genotypic distribution between ischemic stroke patients and controls (For GG vs. AA, χ² = 7.604; P < 0.001, Odds ratio = 2.793; 95% CI = 1.308-5.9). For GG vs. AA + AG, χ² = 44.8, P < 0.001, Odds ratio = 2.382 (95% CI = 1.842-3.081). A significant difference was observed in the frequency of G and A alleles in patients and controls (For G vs. A, χ² = 43.26; P < 0.001, Odds ratio = 2.127; 95% CI = 1.693-2.672). Statistically significant difference was observed in the genotypic distribution between hemorrhagic stroke patients and controls (For GG vs. AG, χ² = 26.78; P = 0.001, Odds ratio = 3.5; 95% CI = 2.162-5.824). A significant difference was observed in the frequency of G and A alleles in patients and controls (For G vs. A, χ² = 41.98; P = 0.001, Odds ratio = 4.1; 95% CI = 2.61-6.44). Conclusion: The results of the present study show that the GG genotype is a significant risk factor for ischemic as well as hemorrhagic stroke. Further, the frequency of the GG genotype was observed to be higher in hemorrhagic stroke patients in comparison with ischemic stroke. Evaluating the association with ischemic stroke subtypes, a significant association was observed with intracranial large artery atherosclerosis and lacunar stroke.

Blister aneurysms of are rare lesions representing a real challenge for diagnosis and management. They typically show small size, hemispherical shape, fragile wall, broad neck, and are arising from non-branching sites of intracranial arteries. Materials and Methods: We retrospectively reviewed all aneurysms treated at our institution. Seventeen patients (6 male, 11 female) with 17 blister aneurysms were identified (mean age 53.3, range 41-63 years). Clinical, procedural, angiographic data as well as follow up data were evaluated. Results: All patients presented with aneurysmal subarachnoid hemorrhage. Majority of the blister aneurysms were located in ICA while 1 was located at posterior cerebral artery, 1 at vertebral and 1 involving basilar artery. All patients were treated using single or overlapping stents and if possible additional coiling. There was no intra-operative rupture. Good outcome (mrs 0-2) was seen in 14 patients. Poor clinical outcome (mrs 3-5) was seen in 2 patients due to vasospasm induced ischemic deficits at discharge, both of them improved on follow up (mrs 1 on follow up). There were 3 mortalities, One patient died of rebleeding while other 2 died due to SAH induced complications. Follow-up angiography was available in 16 patients (one patient died before follow up angiogram) and revealed complete or near complete aneurysm occlusion in 11, incomplete obliteration in 1 and no change in 2 cases. Two cases showed post-treatment angiographic aneurysm recurrence. Both cases were managed with repeat coiling and overlapping stent placement. Conclusion: Endovascular management using single/overlapping stent and if possible coil placement is technically safe and feasible in blister aneurysms. Overlapping stents lead to better aneurysm occlusion than a single stent. Blister aneurysm in dorso-medial ICA showed higher tendency of continued growth/recurrence, higher incidence of clinical vasospasm and in these cases early angiographic follow-up is advisable. Repeat treatment should be considered promptly if necessary.

Aim: To analyze the effect of different radiation variables on the outcomes of treatment for trigeminal neuralgia (TN). Materials and Methods: Seventy-three patients with refractory TN were treated with a maximum dose of 75-90 Gy using either one (n = 41) or two (n = 32) isocenters and were intensively followed up. The integrated dose delivered to the trigeminal nerve root within the prepontine cistern and the nerve root volume was calculated using the Gamma-Plan system. Relationships between the clinical outcomes and radiation variables were statistically analyzed using a combination of Fisher's exact test and multivariate analyses. Results: At their last follow up, 21 patients (28.8%), 22 patients (30.1%), 19 patients (26%), 6 patients (8.2%), and 5 patients (6.8%) had Grade I-V pain outcomes, respectively, and the average mean dose delivered to the trigeminal nerve root, average integrated dose (mJ) and nerve root volume in prepontine cistern were 45.29 Gy, 4,26 mJ, and 98.47 mm ³ , respectively. The pain relief rate was not significantly improved by a higher amount of integrated dose received by the trigeminal nerve root in prepontine cistern, however, incidence of trigeminal nerve toxicity was increased (P = 0.005). Conclusions: Our limited results suggested that a higher integrated dose might increase the incidence of trigeminal nerve toxicity with no significant benefits in pain relief when the maximal doses were within 75-90 Gy. The protocol for increasing radiation variables such as longer nerve exposure length and higher maximal dose is not recommended as a routine approach and more randomized studies with large number of cases would be required to verify the best treatment strategy of gamma knife radiosurgery for TN.

Background: High-grade primary gliomas are invasive and have poor outcome. The identification of biomarkers predictive of outcome in patients with gliomas is crucial for clinical follow-up. Epithelial cell transformation sequence 2 (ECT2) modulates cancer invasion, progression, metastasis and cell cycle regulation. However, its role in determining the clinical outcome of human gliomas warrants further elucidation. Materials and Methods: This study hypothesized that ECT2 is over-expressed in human gliomas. We analysis de-linked data (GDS1815/219787_s_at/ECT2) in primary high-grade glioma, and exclude 23 sheets of data without detailed information. An additional database (GDS1962/234992_x_at/ECT2) was also included to evaluation ECT2 gene expression in each pathologic grading. Results: Analysis of the Gene Expression Omnibus (GEO) profile showed that ECT2 mRNA expression level was higher in WHO grade IV (n = 81) than in grade II (n = 7, P = 0.0126) gliomas and non-tumor controls (n = 23; P = 1.65 Χ 10 ^-8 ). Kaplan-Meier analysis showed unfavorable survival in patients with high ECT2 mRNA levels (n = 10) than in those with low ECT2 expression (n = 67) (median survival, 106 vs. 46 weeks, P < 0.0001, by log-rank test, Hazard ratio: 0.07850, 95% CI: 0.02402-0.2565). Conclusions: ECT2 expression is positively correlated with WHO pathologic grading and unfavorable survival, suggesting that ECT2 may be a potential therapeutic candidate in human gliomas.

Background: Aneurysms of proximal (A1)-segment of anterior cerebral artery (ACA) constitute <1% of all intracranial aneurysms. Aim: Management dilemmas of A1-segment aneurysms were studied utilizing a new classification based upon their location on the longitudinal and circumferential axis of A1-segment. Setting and Design: Tertiary care referral center. Materials and Methods: This is a retrospective analysis of 14 patients (0.98%; mean age: 38.02 ± 15.74 years) with A1-segment aneurysms. The data collected included clinical features, computed tomography (CT) scan and CT-angiography (CTA)/digital subtraction angiography (DSA) findings, modified Hunt and Hess (H and H) grade, surgical steps and difficulties encountered. Results: The modified Hunt and Hess (H and H) grades in the 14 patients were: grade I in two, grade II in two, grade III in four, grade IV in five and grade V in 1. The mean ictus-admission duration was 5.07 ± 2.30 days (range: 1-10 days). Multiple aneurysms were two. Thirteen patients underwent clipping and one, wrapping. Bilateral lateral ventricle hemorrhage occurred in 8 (66%) patients and frontal intracerebral hematoma in 2 (16.66%) patients. In one patient, the aneurysm could only be detected following the third angiogram. A1-aneurysms were classified as proximal (n = 6), distal (n = 7), and mid-segment (n = 1); and, anterior (n = 2), posterior-inferior (n = 7) and posterior-superior (n = 5). Follow-up (range: 6 months-10 years, mean: 2.9 years) recovery (assessed using Modified Rankin's score or mRS) correlated with preoperative status. The preoperative H and H grade and follow-up mRS status were as follows: H and H I (n = 2): mRS 0 (asymptomatic, n = 2); H and H II (n = 2): mRS 1 (minor symptoms without disability, n = 2); H and H III (n = 4):mRS 1 (n = 2) and mRS 2 (slight disability but performing unassisted activities of daily living, n = 1); H and H IV (n = 5): mRS 3 (moderate disability, requiring help for daily living but unassisted walking, n = 2) and mRS 4 (moderately severe disability, requiring help for daily living and walking, n = 2). One patient each from H and H grade III, IV and V died (mRS 6) during treatment due to severe vasospasm, pneumonitis and septicemia. Conclusions: A1-segment aneurysms have unique properties: rupturing of small-sized aneurysms; multiplicity; undetectable on initial imaging; frontal lobar/intraventricular bleeding; origin from main trunk and not bifurcating points; neck obscuration by A1-trunk; close proximity to perforators; and, associated A1-segment and ACA anomalies. A new classification identifies surgical difficulties inherent in different sites of origin of A1-aneurysms.

Background: Although microscopic anterior cervical discectomy with or without fusion are common surgical procedures for treatment of cervical herniated discs, loss of disc height, pseudarthrosis, and adjacent disc degeneration are some of the problems associated with it. This study is aimed to evaluate results of endoscopic microforaminotomy in cervical disc diseases. Materials and Methods: A prospective study of 50 patients of mono segmental soft or hard disc causing myeloradiculopathy was undertaken. A visual analogue scale (VAS) for neck and arm pain and functional outcomes using the Nurick grading system were assessed. There were 28, 12, 8, and 2 patients at C5-6, C6-7, C4-5, and C3-4 levels disc diseases, respectively. Patients with two or more level disc, instabilities, disc extending more than half vertebral body height, and previous operation at the same segment were excluded. Results: Age ranged from 21 to 67 years. Average postoperative reduction in disc height, operating time, and blood loss was 1.1 mm, 110 minutes, and 30 ml, respectively. Average pre-operative VAS score for arm pain and Nurick grading was 7.6 and 2.7, which improved to 1.9 and 0.82, respectively. All patients improved; 1, 2, 3 grade improvement was seen in 10, 27, and 10 patients, respectively. There was no significant complication or any mortality. Conclusion: Although longer follow up of large number of patients is required, endoscopic microforaminotomy is a safe and an effective alternative to microscopic anterior discectomy with or without fusion.

Objective: The objective of this study was to conduct a retrospective analysis of the clinical characteristics of 20 individuals with intramedullary cavernous angiomas (ICA) presented with serious pain complaints. This study was to investigate the efficacy of short- and long-term pain relief following surgical resection. Materials and Methods: Between 2006 and 2012, 55 patients with ICA were surgically managed in our institution. Of these 20 (36.4%) patients presented with serious pain as a unique clinical feature. Numerical pain scores (NPS: 0-10) were used to assess the patients' pain levels preoperatively, as well as at 1 month and 1 year postoperatively. All the patients had magnetic resonance imaging (MRI) preoperatively and during follow-up. IBM SPSS Statistics 19.0 was used to analysis the outcomes. Results: Of the 20 patients with ICA, 9 (45%) required cervical and 11 (55%) thoracic surgery. Seven (35%) patients presented with radicular pain and 13 (65%) presented with central pain. Pain improved from a total mean preoperative score of 8.60 to total mean score of 2.95 (P < 0.01) at one month and 3.35 (P < 0.01) at one year post-surgery. However, the pain symptoms completely disappeared in the long-term follow-up only in three (15%) patients. Five (25%) patients reported new pain symptoms with no lesion reoccurrence postoperatively. Conclusion: Pain is the common complaint in patients with ICA. Surgery is effective in providing short- and long-term pain relief. However, long-term follow-up measures on postoperative pain levels show that the pain does recur in the months following surgery.

Intracranial schwannoma is a kind of benign intracranial tumors, derived from neuron myelin sheath, growing slowly and curable. Olfactory schwannoma is an exceedingly rare kind of schwannoma, whose origin is still uncovered. Although several theories have been put up for pathogenesis of olfactory schwannoma, till now, none of these hypotheses has been widely accepted and acknowledged officially. Up to date, only 46 cases of olfactory schwannoma were reported across numerous institutes worldwide. Here we gathered two cases from Department of Neurosurgery in Beijing Tiantan Hospital across two years collection.

Central nervous system primitive neuroectodermal tumours (CNS PNET) are aggressive embryonal tumours composed of undifferentiated or poorly differentiated neuroepithelial cells seen in the pediatric age group. This is rare and only a handful of cases of ES/pPNET in CNS are reported. We report such a case in a 3 year old child. Reporting of more such cases is needed to better define these rare tumours of the dura.