Using correlation analysis to study the potential connection between brain genetics and imaging has become an effective method to understand neurodegenerative diseases. Sparse canonical correlation analysis (SCCA) makes it possible to study high-dimensional genetic information. The traditional SCCA methods can only process single-modal genetic and image data, which to some extent weaken the close connection

Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes for a protein involved in iron metabolism, while genetic variants in HFE have been associated with hereditary hemochromatosis (HH), an iron overload disorder. The objective of the

Neuropathic pain (NP) involves metabolic processes that are regulated by metabolic genes and their non-coding regulator genes such as microRNAs (miRNAs). Here, we aimed at exploring the key miRNA signatures regulating metabolic genes involved in NP pathogenesis. We downloaded NP-related data from public databases and identified differentially expressed microRNAs (miRNAs) and mRNAs through differential

As one of the main types of secondary craniocerebral injury, the onset, progression, and prognosis of chronic subdural hematoma (CSDH) are closely related to the local inflammation of intracranial hematoma. Atorvastatin is reported to be effective in the conservative treatment of CSDH. This study aimed to clarify whether atorvastatin regulated the inflammatory responses in CSDH by interfering with

Brachial plexus avulsion (BPA) is a devastating traumatic peripheral nerve injury complicated with paralysis of the upper extremity. We previously reported that leucine-rich repeat and immunoglobulin-like domain-containing NOGO receptor-interacting protein 1 (LINGO-1) has a potent role in inhibiting neuron survival and axonal regeneration after the central nervous system (CNS) damage and miR-615 is

Heterozygous missense mutations in TUBB3 have been implicated in various neurological disorders encompassing either isolated congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or complex cortical dysplasia with other brain malformations 1 (CDCBM1). The description of seizures in patients with TUBB3 mutations is rare. Here, we reported a patient who had febrile seizures before and focal

The present study investigated that maternal type 1 diabetes may contribute to autism pathogenesis in offspring, and that insulin therapy during pregnancy may prevent the onset of autism. As evidenced, selected brain biomarkers representing the accepted etiological mechanism of autism in newborn rats from diabetic mothers and diabetic mothers receiving insulin therapy compared to the propionic acid

Lysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding genes of specific enzymes of sphingolipid hydrolases. The current study aimed to provide additional knowledge on the genotype of sphingolipidoses disease among Iranian patients affected by the disease

Neonatal hypoxic-ischemic encephalopathy (HIE) is an obstinate disease that troubles neonatologists. At present, cognitive impairment after HIE has received increasing attention. Synaptic plasticity determines the development of cognitive function, so it is urgent to develop new drugs that can improve HIE-induced cognitive impairment. Hypoxia–ischemia (HI)–induced neuroinflammation affects synaptic

The use of methamphetamine (METH) is a growing worldwide epidemic that bears grave societal implications. METH is known to exert its neurotoxic effects on the dopaminergic and serotonergic systems of the brain. In addition to this classical studied mechanism of damage, findings from our laboratory and others have shown that acute METH treatment and mechanical injury, i.e. traumatic brain injury (TBI)

Cluster headache (CH) is a severe primary headache disorder with a genetic component, as indicated by family and twin studies. Diurnal and seasonal rhythmicity are key features of the disease and might be related to vitamin D, as low vitamin D levels have been observed in patients with cluster headache. In addition, the vitamin D receptor (VDR) occurs in brain areas and particularly in the hypothalamus

This study investigates the association between the C14orf119 gene rs6736 polymorphism and ischemic stroke (IS) susceptibility, and explores the influence of the rs6736 polymorphism on the binding between miR-7–1 and the C14orf119 gene. mRNA expression levels were determined in 45 IS patients and 45 matched controls via real-time quantitative PCR. A total of 774 IS patients and 793 matched controls

Neuropathic pain is characterized by hypersensitivity, hyperalgesia, and allodynia, which is caused by damage to the somatosensory nervous system. It substantially impairs the quality of life. The management of neuropathic pain is challenging and should comprise alternative therapies. Researchers working on neural modulation methods in the field of optogenetics have recently referred to novel techniques

Loss of physical and emotional health due to spinal cord injury (SCI) has been rapidly increasing worldwide. Effective evaluation of the severity of SCI is crucial to its prognosis. Herein, we constructed rat models of SCI with four different degrees of injury (sham group, light injury group, moderate injury group, and heavy injury group), using the surgical approach. Cerebrospinal fluid (CSF), plasma

Vitamin D receptor (VDR) signaling has been found to contribute to the pathology of numerous neuropsychiatric diseases including schizophrenia. Notably, VDR signaling has a functional relationship with many long non-coding RNAs (lncRNAs) such as SNHG6, LINC00346 and LINC00511. We calculated expression of these lncRNAs in the venous blood of patients with schizophrenia versus healthy individuals. Expression

The activation of microglia is an important cause of central nervous system (CNS) inflammatory cell infiltration and inflammatory demyelination in experimental autoimmune encephalomyelitis (EAE). Furthermore, the proinflammatory response induced by the NLR family pyrin domain containing 3 (NLRP3) inflammasome can be amplified in microglia after NLRP3 inflammasome activation. Autophagy is closely related

Polo-like kinase 4 (PLK4) is one of the key regulators of centrosomal replication. However, its role and mechanism in spinal cord injury (SCI) are still unclear. The SCI model on rats was constructed and the expression and localization of PLK4 in the spinal cord are analyzed with Western blot and immunofluorescence, respectively. Then the specific siRNAs were encapsulated in nanoparticles for the inhibition

The abnormal expressions of enhancer-associated genes have been reported to be correlated with poor prognosis of tumors, including glioblastoma (GBM). The objective of the current study is to predict prognosis by identifying enhancer-associated genes (EAGs). The profiles of genome-wide expressions of low-grade glioma (LGG) and GBM tissues in The Cancer Genome Atlas (TCGA) dataset were obtained to explore

Brain-derived neurotrophic factor (BDNF), or abrineurin, is a member of the neurotrophin family of growth factors that acts on both the central and peripheral nervous systems. BDNF is also well known for its cardinal role in normal neural maturation. It binds to at least two receptors at the cell surface known as tyrosine kinase B (TrkB) and p75NTR. Additional neurotrophins that are anatomically linked

Alzheimer’s disease is a neurodegenerative disorder of the elderly described by progressive cognitive debility. Recent studies have displayed the significance of linear and circular long non-coding RNAs (lncRNAs) in the pathobiology of Alzheimer’s disease. These studies have reported the downregulation of MALAT1, while the upregulation of NEAT1, RP11-543N12.1, SOX21-AS1, BDNF-AS, BACE1-AS, ANRIL, XIST

Alzheimer's disease (AD), the most common type of dementia, is a serious neurodegenerative disease that has no cure yet, but whose symptoms can be alleviated with available medications. Therefore, early and accurate diagnosis of the disease and elucidation of the molecular mechanisms involved in the progression of pathogenesis are critically important. This study aimed to identify dysregulated miRNAs

Imaging genetics reveals the connection between microscopic genetics and macroscopic imaging, enabling the identification of disease biomarkers. In this work, we make full use of prior knowledge that has significant reference value for investigating the correlation between the brain and genetics to explore more biologically substantial biomarkers. In this paper, we propose joint-connectivity-based

Schizophrenia is considered a multifactorial disease, where one of the pathogenetic links is oxidative stress; however, the results of studies are often contradictory, largely due to significant heterogeneity among study methods. The present study was undertaken to compare the levels of oxidative stress markers in the peripheral blood of patients with a first episode of schizophrenia (FES) and in healthy

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most frequent cause of autosomal dominant Parkinson’s disease (PD), producing psychiatric and motor symptoms. We conducted this study to explore whether microglial dopaminergic (DAergic) fiber refinement and synaptic pruning are involved in the abnormal behavioral phenotypes of carriers of the LRRK2 G2019S mutation, by employing young

Intracerebral haemorrhage (ICH) can be a catastrophic event; even if the initial stages of the pathology were well-managed, a number of patients experience varied residual neurological deficits following the insult. Ferroptosis is a recently identified type of cell demise which is tightly linked to the neurological impairment associated with ICH. In the current work, the prophylactic impact of scalp

Exosomes harvested from bone marrow-derived mesenchymal stromal cells (BMSCs) have shown treatment potential in many diseases. In vitro, Zeb2/Axin2 stimulated endogenous neurogenesis, which induced functional recovery after stroke. Here, we investigated whether the Zeb2/Axin2-enriched exosomes harvested from BMSCs transfected with a Zeb2/Axin2 overexpression plasmid would enhance neurological recovery

Neurological symptoms in COVID-19 patients have attracted the interest of the scientific community, yet their mechanisms remain unknown. In some circumstances, the presence of neurological manifestations may result in an incidental diagnosis after a detailed investigation. In the present letter, we discuss a case published by Demir et al., in which the diagnosis of COVID-19 enabled the diagnosis of

Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical findings of patients with Sotos syndrome. Sixteen patients suspected to have Sotos syndrome with clinical findings were examined retrospectively, ranging in ages between 3 and 23. In our file screening

With the rapid development of sequencing technology, scientists have been able to study and acquire a better understanding of non-coding RNAs (ncRNAs). Circular RNAs (circRNAs), a unique class of ncRNAs with a special loop structure, have been found to possess modulatory properties with respect to various biological processes, such as interacting with nucleic acids or proteins. In addition to their

Abnormal migration of subventricular zone (SVZ)-derived neural progenitor cells (SDNPs) is involved in the pathological and epileptic processes of focal cortical dysplasias (FCDs), but the underlying mechanisms are not clear. Recent studies indicated that high mobility group box 1 (HMGB1)/receptor for advanced glycation end products (RAGE) are widely expressed in epileptic specimens of FCDs, which

Patients with Huntington’s disease (HD) have an increased incidence of diabetes. However, the molecular mechanisms of pancreatic β-cell dysfunction have not been entirely clarified. Revealing the pathogenesis of diabetes can provide a novel understanding of the onset and progression of HD, as well as potential clues for the development of new therapeutics. Here, we demonstrated that the mouse pancreatic

Glioblastoma multiforme (GBM) is the recognized as the most aggressive brain tumor with poor prognosis and low 1-year and 5-year survival rate. The treatment methods for GBM are limited and inefficient, and novel strategies for GBM treatment are urgently warranted. MiR-338-3p is described as a tumor suppressor in a variety of malignancies, including GBM. However, its role in GBM is not fully understood

CD4+ T cells are known as a noteworthy potential modulator of inflammation in multiple sclerosis (MS). In the current study, we investigated the transcriptome profile of CD4+ T cells in patients with relapsing–remitting MS (RRMS) at the relapse phase. We performed RNA sequencing of CD4+ T cells isolated from four relapsing–remitting MS (RRMS) patients at the relapse phase and four age- and sex-matched

Encompassing live cell imaging and morphometrics at the microscopical level, we showed here, for the first time, protection of neuronal-like cells by the novel drug candidate, SKIP, against the Parkinson’s disease-related neurotoxin, rotenone. Mechanistically, rotenone disrupted microtubule dynamics, which SKIP partially repaired through microtubule end-binding proteins, coupled with increasing neurite

CircRNAs belong to a novel class of noncoding RNAs that are generated by exons of genes by alternative mRNA splicing and involved in pathophysiological processes of ischemic stroke by regulating neuro-inflammation. A total of 982 patients were enrolled in our study for stroke recovery analysis. The aim of our study was to first explore the association between the inflammation-related circRNA polymorphism

Autosomal recessive microcephaly and chorioretinopathy (MCCRP) is a neurodevelopmental disorder characterized by delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities, and its occurrence has been found to be closely related to variants of the gene encoding centrosomes. However, the association between centrosomal duplication defects and the etiology of microcephaly

Raine syndrome is a rare, often lethal autosomal recessive condition marked by congenital malformations that range in severity. Considering that several case reports of this syndrome describe cases of stillbirth or perinatal death, information about the clinical presentation and development of this condition in mild, non-lethal cases is lacking. With that in mind, in this case report, we describe the

X-linked intellectual disability can be diagnosed in about 10–12% of intellectually disabled males. In the past, mutations affecting the PAK3 gene (p21 protein-activated kinase 3, MIM#300142) have been associated with a non-syndromic form of X-linked intellectual disability, which has to date been identified in a limited number of families. Since this neurodevelopmental disorder mostly afflicts males

The process of ageing accompanies several metabolic diseases. With ageing, fats accumulate to increase the visceral and abdominal adiposity leading to hyperinsulinemia, insulin resistance, obesity and several other diseases. Drosophila melanogaster is often used to study the ageing process and its related disorders. Therefore, in this study, we performed an in silico analysis to relate the process

Progressive myoclonic epilepsy is a group of neurodegenerative diseases with complex clinical and genetic heterogeneity, which is associated with spontaneous or action-induced myoclonus and progressive neurodegeneration. Since 2020, 4 families with progressive myoclonic epilepsy-11 [OMIM#618876] have been reported with a very limited spectrum of SEMA6B pathogenic variants. In our study, whole-exome

As the key organ that separates humans from nonhuman primates, the brain has continuously evolved to adapt to environmental and climatic changes. Although humans share most genetic, molecular, and cellular features with other primates such as macaques, there are significant differences in the structure and function of the brain between humans and these species. Thus, exploring the differences between

Calpain-mediated proteolysis has been proposed to modulate the pathogenesis of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), a disorder due to a CAG repeat expansion (CAGexp) at ATXN3. We aimed to investigate if single-nucleotide polymorphisms (SNPs) at calpain gene CAPN2 and at calpastatin gene CAST modulate the age at onset (AO) and disease progression in SCA3/MJD

To study the potential role of brain-derived neurotrophic factor (BDNF) methylation in heroin addiction, we first detected the methylation level of seven CpG islands that included 106 CpG sites in the promoter regions of BDNF from 120 people addicted to heroin and 113 controls. Methylation quantitative trait locus (mQTL) analysis was then employed to determine the association between the single-nucleotide

A correction to this paper has been published: https://doi.org/10.1007/s12031-021-01854-2

Data from preclinical studies propose nicotinamide adenine dinucleotide (NAD+) as a neuroprotective and bioenergetics stimulant agent to treat Alzheimer’s disease (AD); however, there seems to be inconsistency between behavioral and molecular outcomes. We performed this systematic review to provide a better understanding of the effects of NAD+ in rodent AD models and to summarize the literature. Studies

Spinal cord injury is a serious disease of the central nervous system, but there is no effective treatment. And zinc is an essential nutrient for human body and participates in many physiological processes, such as immune response, homeostasis, oxidative stress, cell cycle progression, DNA replication, DNA damage repair, apoptosis, and aging. This article mainly summarizes that zinc could predict the

Alzheimer’s disease (AD) is characterized by progressive synaptic dysfunction, deterioration of neuronal transmission, and consequently neuronal death. Although there is no treatment for AD, exposure to enriched environment (EE) in mice, as well as physical and mental activity in human subjects have been shown to have a protective effect by slowing the disease’s progression and reducing AD-like cognitive

The projection from dopaminergic neurons to gamma-aminobutyric acid (GABA) interneurons in the prefrontal cortex is involved in the etiology of schizophrenia. The impact of interacting effects between dopamine signals and the expression of GABA on the clinical phenotypes of schizophrenia has not been studied. Since these interactions could be closely involved in prefrontal cortex functions, patients

Parkinson's disease is a progressive neurodegenerative disorder in which dopaminergic neurons located in the substantia nigra are gradually lost. Currently, combined treatment strategies are receiving increasing attention as potential therapeutic approaches for Parkinson's disease. This study aimed to evaluate the potential effects of exosomes released from SH-Sy5y cells and the liposomal form of L-dopa

Vitamin D receptor (VDR) signaling has been reported to affect neurodevelopment, thus participating in the risk of autism spectrum disorder (ASD). We have measured expression amounts of VDR, CYP27B1, and two related long non-coding RNAs, namely SNHG6 and LINC00511, in the circulation of ASD patients compared with normal controls. Expression of CYP27B1 was remarkably higher in ASD cases compared with

Glioma is highly lethal because of its high malignancy. Ubiquitination, a type of ubiquitin-dependent protein modification, has been reported to play an oncogenic or tumor-suppressive role in glioma development, depending on the targets. Ring finger protein 139 (RNF139) is a membrane-bound E3 ubiquitin ligase serving as a tumor suppressor by ubiquitylation-dependently suppressing cell growth. Herein

Desminopathies (MIM*601419) are clinically heterogeneous, manifesting with myopathy and/or cardiomyopathy and with intra-sarcoplasmic desmin-positive deposits. They have either an autosomal dominant (AD) or recessive (AR) pattern of inheritance. Desmin is a crucial intermediate filament protein regulating various cellular functions in muscle cells. Here, we report a 13-year-old girl, born of second-degree

Both electroacupuncture and constraint-induced movement therapy have been reported to produce therapeutic effects on the recovery of ischemic stroke. The combined use of these two therapies is not rare clinically, although its effectiveness is not yet clear. We aimed to evaluate the efficacy of the combination of electroacupuncture and constraint-induced movement therapy in ischemic stroke rats, and

Calcium overload and hyperglycemia are risks of stroke onset in diabetics. Our study was designed to elucidate the beneficial role of calcium channel blockers by targeting voltage-gated calcium channels in diabetes-associated cerebrovascular complications. Diabetes was induced using the neonatal streptozotocin rat model. After confirmation of diabetes, middle cerebral artery occlusion (MCAO) was carried

MicroRNA-9 (miR-9) modulates gene expression and demonstrates high structural conservation and wide expression in the central nervous system. Bioinformatics analysis predicts almost 100 ion channels, membrane transporters and receptors, including genes linked to primary familial brain calcification (PFBC), as possible miR-9-5p targets. PFBC is a neurodegenerative disorder, characterized by bilateral

A decline of estrogen level leads to spatial learning and memory impairments, which mediated by hippocampus and cortex. Accumulating evidences demonstrated that aerobic exercise improved memory of postmenopausal women and ovariectomized (OVX) mice. However, the molecular mechanisms for this protection of exercise are not completely clear. Accordingly, the present study was designed to examine the effect

The present study aimed to detect the effect of tenascin C (TNC) on cell function and chemosensitivity to paclitaxel and phosphatidylinositol 3-kinase/protein kinase B (PI3K/AKT) signaling in glioma cells. Human glioma cells U87, LN-229, T98G and U251 and normal human astrocytes were obtained, in which TNC expression was detected. The U87 cells and U251 cells were chosen and infected with lentivirus

Dysregulation of the oxidant-antioxidant system contributes to the pathogenesis of cerebral stroke (CS). Epigenetic changes of redox homeostasis genes, such as glutamate-cysteine ligase (GCLM), glutathione-S-transferase-P1 (GSTP1), thioredoxin reductase 1 (TXNRD1), and myeloperoxidase (MPO), may be biomarkers of CS. In this study, we assessed the association of DNA methylation levels of these genes

The occurrence of ischemia-reperfusion (I/R) injury leads to dysfunction as well as high rates of morbidity and mortality in stroke, and new effective therapeutic strategies for I/R are still needed. We investigated the effect of IL-27 on I/R injury-induced neurological function impairment, cerebral infarction volume and variation in levels of inflammatory factors in mice with middle cerebral artery

Circular RNAs (circRNAs) have key roles in a variety of neurological diseases, including epilepsy. This objective of this study was to perform the functional exploration and mechanism investigation of circRNA Ubiquilin1 (circUBQLN1) in epilepsy. Epilepsy cell model was established by the treatment of Mg2+-free in human neurons-hippocampal (HN-h) cells. The quantitative real-time polymerase chain reaction