Bo Xiao

Central South University | CSU · Department of Neurology

The blockade of the interleukin 6 receptor (IL-6R) demonstrates significant potential in various autoimmune diseases (ADs); however, the underlying therapeutic efficacy associated with this approach remains elusive. We conducted a comprehensive Mendelian randomization (MR) analysis based on large-scale genome-wide association studies to investigate...

Background Ischemic stroke (IS) accounts for 71% of all strokes, whose diagnosis and prognosis require further exploration. Neutrophil extracellular traps (NETs) are produced by neutrophils, and there is already evidence that NETs play a role in IS, but further studies about crosstalk between immune cells, pathways and NETs are still needed. Materi...

To test a Chinese character version of the phonemic verbal fluency task in patients with temporal lobe epilepsy (TLE) and assess the verbal fluency deficiency pattern in TLE with and without hippocampal sclerosis, a cross-sectional study was conducted including 30 patients with TLE and hippocampal sclerosis (TLE-HS), 28 patients with TLE and withou...

Background Lipid-lowering drugs are widely used among the elderly, with some studies suggesting links to muscle-related symptoms. However, the causality remains uncertain. Methods Using the Mendelian randomization (MR) approach, we assessed the causal effects of genetically proxied reduced low-density lipoprotein cholesterol (LDL-C) through inhibi...

Aims To investigate the diagnostic and predictive role of ¹⁸F‐FDG PET/CT in patients with autoimmune encephalitis (AE) as a whole group. Methods Thrty‐five patients (20 females and 15 males) with AE were recruited. A voxel‐to‐voxel semi‐quantitative analysis based on SPM12 was used to analyze ¹⁸F‐FDG PET/CT imaging data compared to healthy control...

Background: Migraine is a common and burdensome neurological disorder. The causal relationship between sedentary behaviours (SBs) and migraine remains instinct. We aimed to evaluate the roles of SBs including watching TV, using computer and driving in the risk of migraine. Methods: We conducted a univariable and multivariable Mendelian randomiza...

Purpose This study aimed to comprehensively explore the different metabolic connectivity topological changes in MTLE and NTLE, as well as their association with surgical outcomes. Methods This study enrolled a cohort of patients with intractable MTLE and NTLE. Each individual’s metabolic connectome, as determined by Kullback-Leibler divergence sim...

This study was designed to analyze clinical and radiographic features of adult patients coexisting with NMDAR-IgG and MOG-IgG. Eleven adult patients coexisting with NMDAR-IgG and MOG-IgG were collected from Xiangya Hospital, Central South University, between June 2017 and December 2021. Fifty-five patients with anti-NMDAR encephalitis and 49 with M...

Background Despite numerous investigations into the relationship between physical activities (PA) and epilepsy, the causal effects remain contentious. Thus, we conducted a two‐sample Mendelian randomization (MR) study to assess the potential causality. Methods Single‐nucleotide polymorphisms (SNPs) predisposed to self‐reported moderate and vigorou...

Epilepsy, a prevalent neurological disorder characterized by high morbidity, frequent recurrence, and potential drug resistance, profoundly affects millions of people globally. Understanding the microscopic mechanisms underlying seizures is crucial for effective epilepsy treatment, and a thorough understanding of the intricate neural circuits under...

Vascular cognitive impairment (VCI) encompasses a wide range of cognitive disorders stemming from cerebrovascular issues, such as strokes or small vessel disease. These conditions often pose challenges to traditional diagnostic approaches due to their multifactorial nature and varied clinical presentations. Recently, next-generation sequencing (NGS...

Objective Structural–functional coupling (SFC) has shown great promise in predicting postsurgical seizure recurrence in patients with temporal lobe epilepsy (TLE). In this study, we aimed to clarify the global alterations in SFC in TLE patients and predict their surgical outcomes using SFC features. Methods This study analyzed presurgical diffusio...

Mucormycosis is an invasive opportunistic fungal infection, which may be lethal and mostly affects patients with immunodeficiency or diabetes mellitus. Among Mucorales fungi, Rhizopus spp. is the most common cause of mucormycosis, followed by genera such as Mucor and Lichtheimia. Here we report a patient with severe COVID-19 infection who developed...

Study Objectives Narcolepsy type 1 (NT1), characterized by cataplexy and orexin deficiency, is a rare and frequently debilitating neurological disorder. It has been noted to have connections with the gut microbiota, yet the exact causal relationships remain unclear. Methods We conducted a comprehensive bidirectional Mendelian randomization (MR) st...

Background Myasthenia gravis (MG) is an autoimmune disease observed to have connections with gut microbiome. We aimed to systematically assess the causal relationships between gut microbiome, gut microbiome-derived metabolites, and MG using Mendelian randomization (MR) approach. Methods Summary-level genetic datasets from large-scale genome-wide a...

Background KCNJ3 encodes a subunit of G-protein-coupled inwardly rectifying potassium channels, which are important for cellular excitability and inhibitory neurotransmission. However, the genetic basis of KCNJ3 in epilepsy has not been determined. This study aimed to identify the pathogenic KCNJ3 variants in patients with epilepsy. Methods Trio e...

Aims This study aimed to comprehensively explore the cerebellar structural and functional changes in temporal lobe epilepsy (TLE) and its association with clinical information. Methods The SUIT toolbox was utilized to perform cerebellar volume and diffusion analysis. In addition, we extracted the average diffusion values of cerebellar peduncle tra...

Epilepsy is a neurological disorder characterized by high morbidity, high recurrence, and drug resistance. Enhanced signaling through the excitatory neurotransmitter glutamate is intricately associated with epilepsy. Metabotropic glutamate receptors (mGluRs) are G protein-coupled receptors activated by glutamate and are key regulators of neuronal a...

Objective: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper and lower motor neurons. The motor phenotypes of ALS are highly clinically heterogeneous, and the underlying mechanisms are poorly understood. Methods: A comparative proteomic analysis was performed in the cerebrospinal fluid (CSF) of b...

Activity-regulated cytoskeleton-associated protein (Arc) is one of the most important regulators of cognitive functions in the brain regions. As a hub protein, Arc plays different roles in modulating synaptic plasticity. Arc supports the maintenance of long-term potentiation (LTP) by regulating actin cytoskeletal dynamics, while it guides the endoc...

Glioma is a rapidly growing and aggressive primary malignant tumor of the central nervous system that can diffusely invade the brain tissue around, and the prognosis of patients is not significantly improved by traditional treatments. One of the most general posttranslational modifications of proteins is glycosylation, and the abnormal distribution...

A 14-year-old girl presented with acute ascending, symmetric numbness and flaccid paralysis three weeks after a suspected gastrointestinal infection. She had experienced anorexia since this gastrointestinal episode. EMG showed a sensorimotor axonal polyneuropathy. Routine CSF analysis and serum-specific antibodies (anti-ganglioside and node of Ranv...

Aims Differentiating mesial temporal lobe epilepsy (MTLE) and neocortical temporal lobe epilepsy (NTLE) remains challenging. Our study characterized the metabolic profiles between MTLE and NTLE and their correlation with surgical prognosis using ¹⁸F‐FDG‐PET. Methods A total of 137 patients with intractable temporal lobe epilepsy (TLE) and 40 age‐m...

Background: POLR3-related leukodystrophy is a group of rare neurodegenerative disorders characterized by degeneration of the white matter with different combinations of major clinical features. Case: An 18-year-old lady was admitted for no menstruation since childhood. She gradually developed slight symptoms, such as choking after drinking water...

Background Cerebellar functional alterations are common in patients with mesial temporal lobe epilepsy (MTLE), which contribute to cognitive decline. This study aimed to deepen our knowledge of cerebellar functional alterations in patients with MTLE. Methods In this study, participants were recruited from an ongoing prospective cohort of 13 patien...

Objective This study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations. Methods Trio-based exome sequencing (ES) was performed on the four families enrolled in this study. We collect...

Aim Temporal lobe epilepsy is a neurological network disease in which genetics played a greater role than previously appreciated. This study aimed to explore shared functional network abnormalities in patients with sporadic temporal lobe epilepsy and their unaffected siblings. Methods Fifty‐eight patients with sporadic temporal lobe epilepsy, 13 u...

Background The neutrophil-to-lymphocyte ratio (NLR) and monocyte-to-lymphocyte ratio (MLR) are used as prognostic biomarkers for many diseases. In this study, we aimed to explore the possibility of using ratios of NLR and MLR to predict the prognosis of viral encephalitis (VE). Methods A total of 81 patients with an initial diagnosis of VE who wer...

Energy-restricted diet is a specific dietary regimen, including the continuous energy-restricted diet and the intermittent energy-restricted diet. It has been proven effective not only to reduce weight and extend the lifespan in animal models, but also to regulate the development and progression of various neurological diseases such as epilepsy, ce...

Myelin-oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune-mediated demyelinating disease of the central nervous system (CNS). Patients with MOGAD may develop any combination of optic neuritis (ON), myelitis, brainstem syndrome and encephalitis. Reports of MOGAD with cranial nerve involvement are rare. Herein, we...

Background An increasing number of observational studies have revealed an association among the gut microbiota, gut metabolites, and epilepsy. However, this association is easily influenced by confounders such as diet, and the causality of this association remains obscure. Methods Aiming to explore the causal relationship and ascertain specific gu...

Sudden unexpected death in epilepsy (SUDEP) is the major cause of premature death in epilepsy patients, particularly those with refractory epilepsy. Sudden unexpected death in epilepsy is thought to be related to peri‐ictal cardiac dysfunction, respiratory depression, and autonomic dysfunction, albeit the exact etiology is unknown. Sudden unexpecte...

Objective Cortical tremor/myoclonus is the hallmark feature of benign adult familial myoclonic epilepsy (BAFME), the mechanism of which remains elusive. A hypothesis is that a defective control in the preexisting cerebellar‐motor loop drives cortical tremor. Meanwhile, the basal ganglia system might also participate in BAFME. This study aimed to di...

Background: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early-onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease is rarely reported. Vacuolar Protein S...

Temporal lobe epilepsy (TLE) is a complex neurological disease, and its occurrence and development are closely related to the autophagy signaling pathway. However, the mechanism by which electroacupuncture (EA) affects the regulation of autophagy has not been fully elucidated. TLE gene chip dataset GSE27166 and data from rats without epilepsy (n =...

Objective To reveal the possible routine of brain network dynamic alterations in patients with mesial temporal lobe epilepsy (mTLE) and to establish a predicted model of seizure recurrence during interictal periods. Methods Seventy‐nine unilateral mTLE patients with hippocampal sclerosis and 97 healthy controls from two centers were retrospectivel...

Epilepsy is a neurological network disease with genetics playing a much greater role than was previously appreciated. Unfortunately, the relationship between genetic basis and imaging phenotype is by no means simple. Imaging genetics integrates multidimensional datasets within a unified framework, providing a unique opportunity to pursue a global v...

Purpose Differentiating mesial temporal lobe epilepsy (MTLE) and neocortical temporal lobe epilepsy (NTLE) remains a challenge. Our study aimed at characterization of the metabolic profiles between MTLE and NTLE, as well as their correlation with surgical prognosis by using ¹⁸F-FDG-PET. Methods In total, 137 patients with intractable TLE and 40 age...

Energy restriction (ER) protects against cerebral ischemic injury, but the underlying mechanism remains largely unclear. Here, rats were fed ad libitum (AL) or on an alternate-day food deprivation intermittent fasting (IF) diet for 3 months, followed by middle cerebral artery occlusion (MCAO) surgery. The body weight, infarct volume, and neurologic...

Background Currently, more than one-third of patients with drug-resistant temporal lobe epilepsy (TLE) continue to develop seizures after resection surgery. Dynamic functional network connectivity (DFNC) analyses, capturing temporal properties of functional connectivity during MRI acquisition, may help us identify unfavorable surgical outcomes. The...

Aims This multicenter, open‐label, randomized study (Registration No. ChiCTR‐OCH‐14004528) aimed to compare the efficacy and effects of oxcarbazepine (OXC) with levetiracetam (LEV) as monotherapies on patient quality of life and mental health for patients with newly diagnosed focal epilepsy from China. Methods Patients with newly diagnosed focal e...

Topiramate (TPM) is widely used as monotherapy or add-on therapy in adults and children (aged 2 to 16 years) with primary generalized tonic-clonic seizures or focal-onset seizures. TPM has also expanded its treatment spectrum to other seizure types and epileptic encephalopathies. Moreover, TPM has beneficial effects in some comorbidities of epileps...

Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental science. The rapid development of sequencing techniques makes it possible to dig new disease‐causing genes. Our study was aimed to discover novel genes linked to NDD. Trio whole‐exome sequencing was performed to evaluate potential variants o...

The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies. Mono- and bi-allelic variants in human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance...

Honoured as the second genome in humans, the gut microbiota is involved in a constellation of physiological and pathological processes, including those related to the central nervous system. The communication between the gut microbiota and the brain is realized by a complex bidirectional connection, known as the "microbiota-gut-brain axis", via neu...

Objective : To describe the clinical and neuroimaging features, treatment response and outcomes of adult myelin oligodendrocyte glycoprotein (MOG) antibody-associated cortical encephalitis. Methods : In this retrospective study, adult patients fulling the criteria of encephalitis but not fulfilling those of ADEM and tested positive for serum MOG a...

Aim De novo DDX3X variants account for 1–3% of unexplained intellectual disability cases in females and very rarely in males. Yet, the clinical and genetic features of DDX3X neurodevelopmental disorder in the Chinese cohort have not been characterized. Method A total of 23 Chinese patients (i.e., 22 female and 1 male) with 22 de novo DDX3X deleter...

Purpose This study was carried out to test the validity and reliability of the Chinese version of the Stigma Scale of Epilepsy (SSE), with aim to better understand the public stigmatizing attitudes of epilepsy in China and help elucidate stigma determinants for interventions. Methods The SSE was translated into Simplified Chinese Mandarin. In this...

Objective This study was conducted to test the validity and reliability of the Chinese version of the epilepsy stigma scale (ESS), which aims to better understand the stigma of patients with epilepsy (PWEs), lays the foundation for future investigation and explores appropriate strategies to mitigate PWEs’ stigma in Chinese culture. Methods The sca...

AGO1, as one of the rare genes in neurodevelopmental disorders, is involved in the microRNA‐induced silencing complex. Here, we describe the clinical and genetic features of 18 individuals with de novo AGO1 variants: four new and 14 previously reported. Three variants are identified: two in‐frame deletion variants and one missense variant. The spec...

Objective To differentiate diagnostic and prognostic factors from the clinical material of patients with cerebral sparganosis in central South China. Methods : Consecutive patients with cerebral sparganosis from our hospital between 2010 and 2018 were retrospectively enrolled. The clinical manifestations, radiographic features, treatment and outco...

Objective This work was undertaken to study the functional connectivity differences between non‐seizure‐free and seizure‐free patients with temporal lobe epilepsy (TLE) and to identify imaging predictors for drug responsiveness in TLE. Methods In this prospective study, 52 patients with TLE who presented undetermined antiseizure medication respons...

Background Leucine rich repeat containing 4 (LRRC4), also known as netrin-G ligand-2 (NGL-2), belongs to the superfamily of LRR proteins and serves as a receptor for netrin-G2. LRRC4 regulates the formation of excitatory synapses and promotes axon differentiation. Mutations in LRRC4 occur in Autism Spectrum Disorder (ASD) and intellectual disabilit...

Cerebrovascular diseases are among the most common causes of seizures in adults, especially in the elderly. With the increased incidence of stroke, the population with post-stroke seizures has grown, leading to the increased awareness of this disorder in the society. The most common seizure type after stroke is the focal seizure with or without evo...

Myasthenia gravis (MG) is a rare autoimmune disease. Although the impact of immune cell disorder in MG has been extensively studied, little is known about the transcriptomes of individual cells. Here, we assessed the transcriptional profiles of 39,243 cells by single-cell sequencing and identified 13 major cell clusters, along with 39 subgroups of...