Parkinson’s disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson’s disease or parkinsonian disorders. The pathogenesis of Parkinson’s disease remain largely elusive. Here, we report a novel genetic locus for an autosomal dominant, clinically typical and Lewy body confirmed Parkinson’s disease on the short arm of chromosome 20 (20pter-p12) and TMEM230 as the disease-causing gene. We show that TMEM230 encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicles in neurons. The disease-linked TMEM230 mutants impair synaptic vesicle trafficking. Our data provide the first genetic evidence that a mutant transmembrane protein of synaptic vesicles in neurons is etiologically linked to Parkinson’s disease, with novel implications in understanding the pathogenic mechanism of Parkinson’s disease and for developing rational therapies.
This review summarized most of the H2S donors such as inorganic compounds, natural products, anethole trithione derivatives and synthetic compounds used in research and drug development. These special bioactivities provided us some effective strategies for antiphlogosis, cancer therapy, cardiovascular protection and so on.
Background Glioma‐related epilepsy (GRE) is defined as symptomatic epileptic seizures secondary to gliomas, it brings both heavy financial and psychosocial burdens to patients with diffuse glioma and significantly decreases their quality of life. To date, there have been no clinical guidelines that provide recommendations for the optimal diagnostic and therapeutic procedures for GRE patients. Methods In March 2017, the Joint Task Force for GRE of China Association Against Epilepsy and Society for Neuro‐Oncology of China launched the guideline committee for the diagnosis and treatment of GRE. The guideline committee conducted a comprehensive review of relevant domestic and international literatures that were evaluated and graded based on the Oxford Centre for Evidence‐Based Medicine Levels of Evidence, and then held three consensus meetings to discuss relevant recommendations. The recommendations were eventually given according to those relevant literatures, together with the experiences in the diagnosis and treatment of over 3000 GRE cases from 24 tertiary level hospitals that specialize in clinical research of epilepsy, glioma, and GRE in China. Results The manuscript presented the current standard recommendations for the diagnostic and therapeutic procedures of GRE. Conclusions The current work will provide a framework and assurance for the diagnosis and treatment strategy of GRE to reduce complications and costs caused by unnecessary treatment. Additionally, it can serve as a reference for all professionals involved in the management of patients with GRE.
There are many different types of errors in neuronavigation, and the reasons and results of these errors are complex. For a neurosurgeon using the neuronavigation system, it is important to have a clear understanding of when an error may occur, what the magnitude of it is, and how to avoid it or reduce its influence on the final application accuracy. In this article, we classify all the errors into 2 groups according to the working principle of neuronavigation systems. The first group contains the errors caused by the differences between the anatomic structures in the images and that of the real patient, and the second group contains the errors occurring in transforming the position of surgical tools from the patient space to the image space. Each group is further divided into 2 subgroups. We discuss 16 types of errors and classify each of them into one of the subgroups. The classification and analysis of these errors should help neurosurgeons understand the power and limits of neuronavigation systems and use them more properly.
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