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Background KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. Our study summarizes genotype-phenotype features and deep brain stimulation (DBS) efficacy observed with KMT2B-related dystonia patients in China. Methods We identified 20 patients with KMT2B variations from dystonia samples with a gene panel and whole exome sequencing. Genetic, clinical and treatment analyses of these patients with KMT2B mutations were further conducted. Results We summarized the genotype and phenotypic characteristics of KMT2B-related patients in China, including 16 sporadic patients and 3 pedigrees (including 4 patients). Thirty-five percent (7/20) of patients had been published previously. The age of onset was between 1 month and 24 years (average 6.90 ± 5.72 years). Sixty-five percent (13/20) of patients had onset from lower limbs. Upper limbs or larynx accounted for 15% (3/20) and 20% (4/20) of patients, respectively. In the same family, male patients tended to have more severe symptoms than female patients. Carriers of KMT2B variants may present with nonmotor symptoms without dystonia. Abnormal endocrine metabolism could also be seen in our patients, including advanced bone age that had never been reported previously. Nine of our patients underwent DBS surgery. The mean follow-up time was 4.9 (range 1.3–16) months after DBS, and perceptible improvement of clinical symptoms were observed. Conclusions The genotypic and phenotypic spectra of Chinese KMT2B-related dystonia patients were further expanded. DBS surgery might be the preferred option for severe KMT2B-related dystonia patients till now.

Mild cognitive impairment (MCI) is commonly observed in Parkinson’s disease (PD), even in the early stages. However, the neural substrates of cognitive impairment in PD remain unclear. The aim of the current study was to investigate the change of local brain function in PD patients with MCI. Fifty patients with PD, including 25 PD patients with MCI (PD-MCI) and 25 PD patients with normal cognition (PD-NC), and 25 age- and sex-matched healthy controls (HC) were enrolled. Conventional magnetic resonance imaging (MRI), 3D structural images, and resting state-functional MRI (rs-fMRI) were performed in all subjects. Regional homogeneity (ReHo) was measured based on the rs-fMRI images to investigate the altered local brain functions. Brain regions with decreased ReHo were located in the left posterior cerebellar lobe in PD sub-groups compared to the HC group, and the brain regions with increased ReHo were located in the limbic lobe (right precuneus/bilateral middle cingulate cortex) in PD-MCI compared with HC group. PD-MCI presented with increased ReHo in the bilateral precuneus/left superior parietal lobe and decreased ReHo in the left insula compared to PD-NC. ReHo values for the left precuneus were negatively related to neuropsychological scores, and ReHo values for the left insula were positively related to neuropsychological scores in PD subjects. The present study demonstrated abnormal spontaneous synchrony in the left insula and left precuneus in patients with PD-MCI compared to PD-NC, which might provide a novel insight into the diagnosis and clinical treatment of cognitive impairment in PD.

To investigate the conventional magnetic resonance (MR) findings of cervical spinal cord, to explore the possible changes on diffusion tensor imaging (DTI) in patients with amyotrophic lateral sclerosis (ALS), and to assess the correlations between the changes on DTI and clinical parameters in patients with ALS.Conventional MR imaging (MRI) and DTI in 24 patients with ALS and 16 age-matched control subjects were obtained. On axial planes, regions of interest (ROIs) were marked in bilateral spinothalamic tracts (STs), posterior funiculus, and bilateral lateral corticospinal tracts (LCTs), respectively, at the levels of cervical 2-4 vertebral bodies. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values of these ROIs were estimated. Independent sample t test and Pearson correlation analysis were used.In patients with ALS, no abnormal findings were noted in the cervical spinal cord on conventional MRI. FA values of bilateral LCTs decreased significantly compared to those of the control group (P.05), and ADC values of bilateral LCTs were significantly greater than those of the control group (P.05). FA and ADC values of bilateral LCTs showed no significant difference between patients with definite and probable ALS (P.05). No significant correlation existed between abnormal DTI parameters (FA and ADC values of bilateral LCTs) and clinical parameters (P.05).Subtle abnormalities in bilateral LCTs in the "normal-appearing" cervical spinal cord can be detected using quantitative DTI technique in patients with ALS.

Functional connectivity is altered in several mental disorders. We used resting-state functional MRI to examine the alterations in functional connectivity that occur in patients with absence epilepsy. We found an altered functional connectivity within and between functional modules in patients with absence epilepsy. Some brain regions had a greater number of altered connections. The functional connectivity within and between modules in absence epilepsy patients showed an increase in the number of positive connections and a decrease in the number of the negative connections. In particular, the superior frontal gyrus demonstrated both an increased number of connections with other nodes of the frontal default mode network and a decreased number of connections with the limbic system. These findings provide a new perspective and shed light on how the balance of connections within and between modules may contribute to the development of absence epilepsy.

Functional connectivity has been correlated with a patient’s level of consciousness and has been found to be altered in several neuropsychiatric disorders. Absence epilepsy patients, who experience a loss of consciousness, are assumed to suffer from alterations in thalamocortical networks; however, previous studies have not explored the changes at a functional module level. We used resting-state functional magnetic resonance imaging to examine the alteration in functional connectivity that occurs in absence epilepsy patients. By parcellating the brain into 90 brain regions/nodes, we uncovered an altered functional connectivity within and between functional modules. Some brain regions had a greater number of altered connections and therefore behaved as key nodes in the changed network pattern; these regions included the superior frontal gyrus, the amygdala, and the putamen. In particular, the superior frontal gyrus demonstrated both an increased value of connections with other nodes of the frontal default mode network and a decreased value of connections with the limbic system. This divergence is positively correlated with epilepsy duration. These findings provide a new perspective and shed light on how functional connectivity and the balance of within/between module connections may contribute to both the state of consciousness and the development of absence epilepsy.

Despite advances in microsurgery and the development of new endovascular techniques, the treatment of complex intracranial aneurysms remains a daunting challenge for neurosurgeons. In the present study, we retrospectively reviewed our experience of bypass surgery in the treatment of 93 cases of complex intracranial aneurysms. A series of 93 consecutive cases of complex intracranial aneurysms were treated with bypass surgery between April 2004 and July 2013. Radial artery (RA) grafts were used in 58 cases, saphenous vein (SV) grafts in 16 cases, and occipital artery (OA) grafts in 6 cases, while the remaining 13 cases were managed with superficial temporal artery (STA) grafts. In this series, the aneurysms were excised after trapping in 32 cases with mass effect and neural compression. Proximal occlusion of the parent artery was performed in 22 cases of fusiform or giant dissecting aneurysms with subsequent retrograde flow to avoid compromise of the perforators nearby. Trapping was performed after bypass surgery in the remaining 39 cases. Postoperative angiographies were performed in 91 patients and patency of the bypass graft and obliteration of the aneurysms were confirmed in 89 patients. Patency of the bypass could not be confirmed in the remaining two patients, of which one presented with cerebral infarction due to graft occlusion, and the other remained asymptomatic. Within 1 month after surgery, 88 patients had good outcome, four patients needed assistance for daily living, and one death occurred due to brainstem infarction. In 77 patients with a mean follow-up of 3.0 years, 72 patients had good outcome, 4 patients needed assistance for daily living, and 1 death occurred unrelated to surgery. Complex intracranial aneurysms present unique therapeutic challenges that require thorough surgical planning, individualized treatment strategies, and refined neurovascular techniques for successful outcome. Proper use of bypass surgery is imperative in preserving the parent artery and its major perforators. The internal maxillary artery, used as a donor in a bypass, is an effective method due to its shorter distance from the recipient vessels and relatively large diameter with resulting higher flow rate.

The subtemporal transtentoral approach has been reported for nearly two decades; however it was not well used due to some limitations in dealing with large and giant petroclival meningiomas. The clinical outcome and merit of the modified subtemporal transpetrosal apex approach in large and giant petroclival meningiomas, as well as the choices, the improvements and the therapy strategies of the microsurgical approach in such patients were evaluated in this study.Totally 25 cases of large and giant petroclival meningiomas undergone the modified subtemporal transpetrosal apex approach between April 2004 and January 2010 were enrolled in this study. The choice and improvement of the approach, the basis of anatomy and related research, the effect of accessory equipment, the exposure of tumor and the changes of neurofunction pre- and post-operation were all reviewed retrospectively. The operation outcomes and complications in this approach were also compared with those in the transpetrous presigmoid approach done in 14 cases in the same period.All 25 cases underwent the modified subtemporal transpetrosal apex approach under electrophysiologic monitoring of cranial nerves and brain stem function. Trochlear nerve was partly wrapped in 14 cases, totally wrapped but can be explored in the initial segment of the cerebellum tentorium in 8 cases, totally wrapped and could not be seen until tumor was partly removed in 3 cases. The cerebellum tentorium was cut along the temporal bone from the anterior part of the apex to the mastoid part of superior petrous sinus in 6 cases, from the posterior part of the apex to the mastoid part of superior petrous sinus in 19 cases. Gross tumor resection was accomplished in 17 (68%) patients, subtotal resection in 7 (28%) patients, and partial resection in 1 (4%) patient. The most common postoperative complication was new neurological deficits or aggravations of preexisting deficit (64%). Follow-up ranged from 3 to 69 months. Compared with the transpetrous presigmoid approach done in 14 cases in the same period, the modified subtemporal transpetrosal apex approach showed obvious advantages such as simplicity in manipulating, microinvasiveness, less time-consuming, less complication, higher rate of tumor resection though the rates of gross tumor resection might be of no significant difference.Modified subtemporal transpetrosal apex approach has obvious advantages compared with the transpetrous presigmoid approach. Some complications need to be solved by practice and modification of the approach as well as the accumulation of the experiences.

To evaluate patients' clinical outcome, survival and performance status at the mild-term follow-up evaluation after optimal microsurgical resection of large and giant petroclival meningiomas (PCMs).During a 4-year period (2004-2008), 41 patients underwent operative procedures for resection of PCMs. The tumour size was large or giant in 100% of the patients, with a mean tumour diameter of 4.4 cm. Tumours extended into adjoining regions in 26 of the patients. Six previously underwent operation or irradiation. Gross tumour resection (GTR) was accomplished in 25 (61.0%) patients, subtotal resection (STR) in 15 (36.6%) patients and partial resection in 1 (2.4%) patient. There were no operative deaths. Postoperative complications (cerebrospinal fluid leakage, quadriparesis, infections, cranial nerve palsies, etc.) were observed in 27 (65.9%) patients. Postoperative radiation or radiosurgery was administered to 6 of the 41 patients who had residual tumours.At the conclusion of the study, 27 (65.9%) patients were alive with radiological evidence of the residual disease, and 14 (34.1%) patients were alive without radiological evidence of the residual disease. The mean follow-up period was 35 months (range, 15-45 months). Six (14.6%; five of the STR and partially resected patients and one of the total resection patients) had recurrence; of these patients, four underwent repeat resection and two were treated with gamma knife radiosurgery. The Karnofsky Performance Scale score was 78 ± 14 preoperatively, 80 ± 10 at 1 year postoperatively and 81 ± 10 at the time of the latest follow-up evaluation. Common disabilities at the time of the follow-up evaluation included diplopia, facial numbness and swallowing difficulty. Most patients developed coping mechanisms.The surgical strategy of large and giant PCMs should be focused on the survival and postoperative quality of life. The good surgical approach should be based on the tumour location, the growth direction, the invasion of adjacent structure, the age of the patients and the experience of neurosurgeons. Selectively pursuing an STR without radiotherapy rather than a GTR is a reasonable strategy. Moreover, microneurosurgical technique plays a key role in the level of tumour resection and preservation of nerve function. Intraoperative electrophysiological monitoring also contributes dramatically to the preservation of the nerve function.

The goal in this study was to investigate early diagnostic evidence, optimal therapeutic strategies, and prophylactic methods for slit ventricle syndrome (SVS) in patients with temporal lobe arachnoid cysts who received cyst-peritoneal (CP) shunts.Six cases of SVS in patients with temporal lobe arachnoid cysts who received CP shunts were treated by the senior authors in 2 institutions between January 2005 and January 2009. The radiological data, treatment process, and therapeutic results were reviewed retrospectively.There were 4 boys and 2 girls, whose mean age at presentation was 4 years and 1 month. The main clinical symptoms were severe headache, nausea, vomiting, and decreasing eyesight. Radiological studies showed normal or slightly smaller than normal ventricles, and arachnoid cysts that had shrunk dramatically. The most effective treatment for SVS was to replace the original shunts with devices that had a programmable valve, or if this was unsuccessful, to replace the original shunts with ventriculoperitoneal (VP) shunts. All symptoms in these patients disappeared, and the mean follow-up duration was 24 months.The SVS presents more often in patients with hydrocephalus who undergo VP shunting. However, it is also a serious complication in patients with arachnoid cysts who receive a CP shunt. The SVS is not a single condition; rather, different pathophysiological conditions can underlie this complicated syndrome. Because there are no striking morphological changes on radiological studies of the SVS in the patients with CP shunts, it is not easy for this syndrome to be diagnosed in time and treated rationally. Misdiagnosis and delayed treatment usually occur. The use of programmable shunts or VP shunts to replace the original shunt is an optimal therapeutic choice. The use of low-pressure shunts to treat arachnoid cysts should be abandoned unless dictated by specific indications.

Beijing Functional Neurosurgery Institute, Xuanwu Hospital, The Capital University of Medical Sciences, Changchun Street Number 45, Xicheng District, Beijing 100053, China Department of Neurosurgery, Sanbo Neurosurgical Hospital, No. 50, Xiangshan Yikesong Road, Haidian District, Beijing 100093, China The Department of Neurosurgery, The Armed Police General Hospital of China, Yongding Road Number 69, Haidian District, Beijing 100039, China

OBJECTIVE Crosslink decellularized canine carotid artery allograft by EDC [1-3-(dimethylamino)propyl-3-ethylcarbodiimide methiodide] and evaluate the biocompatibility of it.Use the multi-step detergent-enzyme method to construct decellularized canine carotid artery allograft and cross-link it by EDC with the weight ratio of decellularized artery to EDC 1:1 and 1:2. Evaluate the biocompatibility of it by the cytotoxical MTT test and the rat subdermal bury test.Decellularized canine carotid artery cross-linked by EDC has a lower degradation rate treated by collagenase type II, the result of MTT test show that the EDC cross-linked decellularized artery has no cytotoxity and the rat subdermal bury test show that crosslinking greatly enhance the ability of decellularize artery to resist the enzyme degradation and lower the immune reaction. The more the artery was cross-linked , the more effects it has.Decellularized canine carotid artery cross-linked by EDC has fairly good biocompatibility and ability to resist the collagenase degradation.