Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.

CADASIL is an inherited disease caused by mutations in the NOTCH3 gene. We aimed to investigate the mutation and clinical spectrum, and genotype-phenotype correlations of Korean CADASIL patients. Samples from 492 clinically suspicious patients were collected from four hospitals.

Astrocytes lure CXCR2-expressing CD4 T cells to gray matter via TAK1-mediated chemokine production in a mouse model of multiple sclerosis.

Multiple sclerosis (MS) is a chronic neurological disease of the central nervous system driven by peripheral immune cell infiltration and glial activation. The pathological hallmark of MS is demyelination, and mounting evidence suggests neuronal damage in gray matter is a major contributor to disease irreversibility. While T cells are found in both gray and white matter of MS tissue, they are typically confined to the white matter of the most commonly used mouse model of MS, experimental autoimmune encephalomyelitis (EAE).

Early-life-trauma triggers interferon-β resistance and neurodegeneration in a multiple sclerosis model via downregulated β1-adrenergic signaling.

Environmental triggers have important functions in multiple sclerosis (MS) susceptibility, phenotype, and trajectory. Exposure to early life trauma (ELT) has been associated with higher relapse rates in MS patients; however, the underlying mechanisms are not well-defined. Here we show ELT induces mechanistic and phenotypical alterations during experimental autoimmune encephalitis (EAE).

Th1-Dependent -Associated Immune Reconstitution Inflammatory Syndrome Model With Brain Damage.

-associated immune reconstitution inflammatory syndrome (C-IRIS) is identified upon immune reconstitution in immunocompromised patients, who have previously contracted an infection of (). C-IRIS can be lethal but how the immune system triggers life-threatening outcomes in patients is still poorly understood. Here, we establish a mouse model for C-IRIS with serotype A strain H99, which is highly virulent and the most intensively studied.

An Isoform of the Oncogenic Splice Variant AIMP2-DX2 Detected by a Novel Monoclonal Antibody.

AIMP2-DX2, an exon 2-deleted splice variant of AIMP2 (aminoacyl-tRNA synthetase-interacting multifunctional protein 2), is highly expressed in lung cancer and involved in tumor progression in vivo. Oncogenic function of AIMP2-DX2 and its correlation with poor prognosis of cancer patients have been well established; however, the application of this potentially important biomarker to cancer research and diagnosis has been hampered by a lack of antibodies specific for the splice variant, possibly due to the poor immunogenicity and/or stability of AIMP2-DX2. In this study a monoclonal antibody, H5, that specifically recognizes AIMP2-DX2 and its isoforms was generated via rabbit immunization and phage display techniques, using a short peptide corresponding to the exon 1/3 junction sequence as an antigen.

Internet Game Overuse Is Associated With an Alteration of Fronto-Striatal Functional Connectivity During Reward Feedback Processing.

Internet gaming disorder is associated with abnormal reward processing in the reward circuit, which is known to interact with other brain regions during feedback learning. Kim et al. (1) observed that individuals with internet game overuse (IGO) exhibit altered behavior and neural activity for non-monetary reward, but not for monetary reward.

Strength of resting-state functional connectivity associated with performance-adjustment ability.

Erroneous behavior is usually, although not always, inhibited following a negative outcome (e.g., a penalty), although this adjusting behavior is highly varied.

Impaired Feedback Processing for Symbolic Reward in Individuals with Internet Game Overuse.

Reward processing, which plays a critical role in adaptive behavior, is impaired in addiction disorders, which are accompanied by functional abnormalities in brain reward circuits. Internet gaming disorder, like substance addiction, is thought to be associated with impaired reward processing, but little is known about how it affects learning, especially when feedback is conveyed by less-salient motivational events. Here, using both monetary (±500 KRW) and symbolic (Chinese characters "right" or "wrong") rewards and penalties, we investigated whether behavioral performance and feedback-related neural responses are altered in Internet game overuse (IGO) group.

Gating of memory encoding of time-delayed cross-frequency MEG networks revealed by graph filtration based on persistent homology.

To explain gating of memory encoding, magnetoencephalography (MEG) was analyzed over multi-regional network of negative correlations between alpha band power during cue (cue-alpha) and gamma band power during item presentation (item-gamma) in Remember (R) and No-remember (NR) condition. Persistent homology with graph filtration on alpha-gamma correlation disclosed topological invariants to explain memory gating. Instruction compliance (R-hits minus NR-hits) was significantly related to negative coupling between the left superior occipital (cue-alpha) and the left dorsolateral superior frontal gyri (item-gamma) on permutation test, where the coupling was stronger in R than NR.

Secreted tryptophanyl-tRNA synthetase as a primary defence system against infection.

The N-terminal truncated form of a protein synthesis enzyme, tryptophanyl-tRNA synthetase (mini-WRS), is secreted as an angiostatic ligand. However, the secretion and function of the full-length WRS (FL-WRS) remain unknown. Here, we report that the FL-WRS, but not mini-WRS, is rapidly secreted upon pathogen infection to prime innate immunity.

Formation of visual memories controlled by gamma power phase-locked to alpha oscillations.

Neuronal oscillations provide a window for understanding the brain dynamics that organize the flow of information from sensory to memory areas. While it has been suggested that gamma power reflects feedforward processing and alpha oscillations feedback control, it remains unknown how these oscillations dynamically interact. Magnetoencephalography (MEG) data was acquired from healthy subjects who were cued to either remember or not remember presented pictures.

Brain networks engaged in audiovisual integration during speech perception revealed by persistent homology-based network filtration.

The human brain naturally integrates audiovisual information to improve speech perception. However, in noisy environments, understanding speech is difficult and may require much effort. Although the brain network is supposed to be engaged in speech perception, it is unclear how speech-related brain regions are connected during natural bimodal audiovisual or unimodal speech perception with counterpart irrelevant noise.

Blocking of irrelevant memories by posterior alpha activity boosts memory encoding.

In our daily lives, we are confronted with a large amount of information. Because only a small fraction can be encoded in long-term memory, the brain must rely on powerful mechanisms to filter out irrelevant information. To understand the neuronal mechanisms underlying the gating of information into long-term memory, we employed a paradigm where the encoding was directed by a "Remember" or a "No-Remember" cue.

Functional neuroanatomy of visual search with differential attentional demands: an fMRI study.

Visual search is characterized as efficient (RT independent of distractor number) or inefficient (RT increasing with distractor number). Our goal was to determine if any brain regions are differentially activated by the attentional demands of these two search modes. We used fMRI to examine activation patterns during search for a target among a radial array of several distractors that were manipulated to produce efficient or inefficient search.

Cross-frequency power correlations reveal the right superior temporal gyrus as a hub region during working memory maintenance.

In the present study, we characterized within- and cross-frequency power correlations from magnetoencephalography (MEG) data in order to understand how different brain regions cooperate as a network to maintain working memory representations with several features. The working memory items were composed of spatially arranged dots supposedly requiring both the dorsal and the ventral stream to be engaged during maintenance. Using a beamforming technique, we localized memory-dependent sources in the alpha, beta, and gamma bands.

Neural correlates of bridging inferences and coherence processing.

We explored the neural correlates of bridging inferences and coherence processing during story comprehension using Positron Emission Tomography (PET). Ten healthy right-handed volunteers were visually presented three types of stories (Strong Coherence, Weak Coherence, and Control) consisted of three sentences. The causal connectedness among sentences in the Strong Coherence story was strong that readers would not have to generate bridging inferences, whereas the causal antecedent of the last sentence in the Weak Coherence story was not explicitly stated so that readers should draw bridging inferences to fill the gap between sentences.

Progression of left ventricular pseudoaneurysm after an acute myocardial infarction.

Left ventricular (LV) pseudoaneurysms rarely occur, but are detected more often with the development of new diagnostic tools. Since LV pseudoaneurysms are life-threatening, early surgical intervention is recommended. This report describes an 87-year-old woman with heart failure and a large LV pseudoaneurysm which progressed from a small LV pseudoaneurysm after an acute myocardial infarction over a 1-year period.

Neural correlates of hemispatial neglect: a voxel-based SPECT study.

Background: Despite many studies that investigated the neural correlates of hemispatial neglect (HN) with structural imaging, studies using voxel-wise analyses of functional imaging are not available. Furthermore, previous studies neither considered the neglect severity nor investigated whether there are differences in these neural correlates according to each neglect subtest. This study aimed to investigate the neural correlates of HN by correlating the total and the individual neglect score with hypoperfusion value on single photon emission computed tomography (SPECT) using voxel-wise analyses.

Functional reorganization associated with semantic language processing in temporal lobe epilepsy patients after anterior temporal lobectomy : a longitudinal functional magnetic resonance image study.

Objective: The focus of this study is brain plasticity associated with semantic aspects of language function in patients with medial temporal lobe epilepsy (mTLE).

Methods: Using longitudinal functional magnetic resonance imaging (fMRI), patterns of brain activation were observed in twelve left and seven right unilateral mTLE patients during a word-generation task relative to a pseudo-word reading task before and after anterior temporal section surgery.

Results: No differences were observed in precentral activations in patients relative to normal controls (n = 12), and surgery did not alter the phonological-associated activations.

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Mutations in the GJB2 gene are associated with hereditary hearing loss. Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population. The purpose of this study is to evaluate the prevalence of GJB2 mutations causing inherited deafness in the general Korean population.

Different hemispheric specializations for pitch and audioverbal working memory.

Critical times of involvement of areas important to working memory were examined both with pitch and audioverbal N-back tasks using single-pulse transcranial magnetic stimulation (TMS). TMS was administered to 12 healthy participants over dorsolateral prefrontal and inferior parietal regions in each hemisphere at four different times after stimulus onset (250, 450, 650, and 850 ms). For the pitch N-back task, interference with working memory, as evidenced by a significant increase in reaction time, was observed with TMS over the right hemisphere regions.

Tractography-guided statistics (TGIS) in diffusion tensor imaging for the detection of gender difference of fiber integrity in the midsagittal and parasagittal corpora callosa.

Parasagittal or off-midsagittal structures of the interhemispheric fiber tracts, i.e., the corpus callosum (CC), have a tendency to form structures which diverge from the midsagittal CC (mCC).

Cortical activity at rest predicts cochlear implantation outcome.

The functional status of central neural pathways, in particular their susceptibility to plasticity and functional reorganization, may influence speech performance of deaf cochlear implant users. In this paper, we sought to determine how brain metabolic activity measured before implantation relates to cochlear implantation outcome, that is, speech perception. In 22 prelingually deaf children between 1 and 11 years, we correlated preoperative glucose metabolism as measured by F-18 fluorodeoxyglucose positron emission tomography with individual speech perception performance assessed 3 years after implantation, while factoring out the confounding effect of age at implantation.

The neural correlates of cross-modal interaction in speech perception during a semantic decision task on sentences: a PET study.

Speech perception in face-to-face conversation involves processing of speech sounds (auditory) and speech-associated mouth/lip movements (visual) from a speaker. Using PET where no scanner noise was present, brain regions involved in speech cue processing were investigated with the normal hearing subjects with no previous lip-reading training (N = 17) carrying out a semantic plausibility decision on spoken sentences delivered in a movie file. Multimodality was ensured at the sensory level in all four conditions.