The age-dependency represents a striking new aspect of these phenotypes und highlights a pivotal role for P/Q channels in the development of the central nervous system in a defined time window. While several reviews addressed the clinical presentation and treatment of FHM1 and EA2, an overview of the newly described age-dependent manifestations is lacking. In this Mini-Review we present a clinical update, delineate genotype-phenotype correlations as well as summarize evidence on the pathophysiological mechanisms underlying the expanded phenotype associated with CACNA1A variants.Background Moyamoya angiopathy (MMA), which includes moyamoya disease (MMD) and moyamoya syndrome (MMS), is an uncommon cerebrovascular condition characterized by recurrent stroke. We carried out a bibliometric analysis to examine the development of and research trends in MMA research. Methods Studies published between 2010 and 2019 on MMA were retrieved from the Web of Science Core Collection (WoSCC) on August 14, 2020, and bibliometric and visualization-based analyses were performed by using three different scientometric tools HistCite, VOSviewer, and CiteSpace. Results A total of 1,896 publications published in 384 journals by 6,744 authors, 1,641 institutions and 56 countries/regions were included in the analyses. Annual publication outputs increased from 2010 to 2019. The USA, Japan and China were three key contributors to this study field. Capital Medical University, Seoul National University, and Stanford University were three major institutions with larger numbers of publications. Zhang D, World Neurosurgery, Kuroda S, and STROKE were the most prolific author, prolific journal, top co-cited author and top co-cited journal, respectively. The top five keywords during this period were moyamoya disease, revascularization, stroke, children and surgery, while revascularization surgery and RNF213 were the most common frontier topics. Conclusions In this study, the research trends of global scientific research on MMA over the past decade were systematically analyzed. The study can provide guidance for scholars who want to understand current trends in research in this area and new research frontiers.Background DBS has been shown to significantly affect motor symptoms in Parkinson's disease (PD). However, some studies have suggested that it may have adverse effects on patients' neurocognitive function. To clarify this operation's effect on neurocognitive function, we collected studies containing neurocognitive function evaluation for qualitative and quantitative analysis. Methods We searched relevant clinical studies through Pubmed and Embase databases and extracted and sorted out information such as sample size, post-operative scores, pre-operative and post-operative evaluation interval, PD course, and exclusion criteria, from articles meeting the standards. The magnitude and variance of the DBS group's combined effects and the drug therapy group in each neurocognitive domain were calculated and analyzed by the random-effects model. Results Compared with the drug treatment group, the verbal fluency of patients in the experimental group was significantly decreased at least moderately (ES = -0.553), in which the phonemic fluency declines greatly (ES = -0.842), learning and memory ability was slightly decreased (ES = -0.305), and other neurocognitive functions were not significantly decreased. Conclusion STN-DBS can affect verbal fluency and damage learning and memory. https://www.selleckchem.com/ There was no significant correlation between the above effects and disease progression itself, and it was more likely to be associated with STN-DBS. It is suggested that post-operative patients should be trained and evaluated regularly for their verbal fluency and learning and memory ability. The safety of STN-DBS is acceptable for the majority of patients with motor symptoms.Objective The recent FDA approval of the first 7T MRI scanner for clinical diagnostic use in October 2017 will likely increase the utilization of 7T for epilepsy presurgical evaluation. This study aims at accessing the radiological and clinical value of 7T in patients with pharmacoresistant focal epilepsy and 3T-visible lesions. Methods Patients with pharmacoresistant focal epilepsy were included if they had a lesion on pre-operative standard-of-care 3T MRI and also a 7T research MRI. An epilepsy protocol was used for the acquisition of the 7T MRI. Prospective visual analysis of 7T MRI was performed by an experienced board-certified neuroradiologist and communicated to the patient management team. The clinical significance of the additional 7T findings was assessed by intracranial EEG (ICEEG) ictal onset, surgical resection, post-operative seizure outcome and histopathology. A subset of lesions were demarked with arrows for subsequent, retrospective comparison between 3T and 7T by 7 neuroradiologists using a artifacts were encountered at 7T (p less then 0.001). Significance For patients with 3T-visible lesions, 7T MRI may better elucidate the extent of multifocal abnormalities such as PVNH and PMG, providing potential targets to improve ICEEG implantation. Patients with FCD, PVNH and PMG would likely benefit the most from 7T due to improved lesion conspicuity and boundary. Pathologies in the antero-inferior temporal regions likely benefit less due to artifacts.Background and Objectives Despite the fact that sleep disturbances are among the most common and disabling manifestations of Parkinson's disease (PD), no study has investigated the effect of sleep quality and sleep-related biomarkers on motor skill acquisition in people with Parkinson's disease (PwPD). Objective To examine the relationship between skill acquisition, sleep quality, and sleep-related biomarkers in PwPD using virtual reality (VR) system. Methods This is a cross sectional study conducted on 31 PwPD and 31 healthy controls. To assess skill acquisition, each participant practiced a VR game 6 times (blocks). The main outcomes from the VR game were the required time to complete the VR game and the recorded errors. Motor skill acquisition was calculated as the difference of scores between block 6 and block 2 for both outcomes. Sleep was assessed subjectively using Pittsburgh Sleep Quality Index (PSQI) and objectively using the Actisleep. To assess sleep related biomarker, plasma serotonin level was examined.