Clinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.

Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurodegenerative disorder initially characterized by facial sensory deficits, which later progress to motor deficits in a rostral-caudal distribution. This study investigated the prevalence, clinical features, and prognosis of FOSMN syndrome and compared these aspects with those of bulbar-onset amyotrophic lateral sclerosis (ALS) within a single institutional cohort of motor neuron diseases. We identified four patients with FOSMN syndrome who had been misclassified as having bulbar-onset ALS, representing approximately 2 % of such ALS cases.

Basic Science and Pathogenesis.

Background: Plaques are a hallmark feature of Alzheimer's disease (AD). We found the loss of mucosal-associated invariant T (MAIT) cells and its antigen-presenting molecule MR1 caused a delay in plaque pathology development in AD mouse models. However, it remains unknown how this axis is impacting microglial response and dystrophic neurites.

Basic Science and Pathogenesis.

Background: Alzheimer's disease (AD) and other neurodegenerative diseases are typified by a robust microglial-mediated immune response. Genetic studies have demonstrated that variants in microglial genes are linked to risk for AD. Genome-wide association studies (GWAS) originally identified Phospholipase C gamma 2 (PLCγ2) as a novel risk gene of Alzheimer's disease (AD).

Basic Science and Pathogenesis.

Background: There is strong evidence that underlying genetics of an individual can significantly modify response to development of amyloid and tau pathology with age. Genome-wide association studies indicate that variation in more than 25 genetic loci relevant to microglial biology are predicted to increase susceptibility to Alzheimer's disease (AD). This work aims to understand how genetic context can impact microglia function, how these differences relate to AD pathology, and ultimately, cognitive decline.

Cerebellar Bergmann glia integrate noxious information and modulate nocifensive behaviors.

The cerebellum is activated by noxious stimuli and pathological pain but its role in noxious information processing remains unknown. Here, we show that in mice, cutaneous noxious electrical stimuli induced noradrenaline (NA) release from locus coeruleus (LC) terminals in the cerebellar cortex. Bergmann glia (BG) accumulated these LC-NA signals by increasing intracellular calcium in an integrative manner ('flares').

Psychometric properties of the Global Psychotrauma Screen (GPS) in the Brazilian general population.

Objective: To evaluate the psychometric properties of the Brazilian version of the Global Psychotrauma Screen (GPS).

Methods: The scale was tested on two Internet-based samples: GPS-CCC (n = 657) and GPS-Brazil (n = 431). Exploratory factor analysis (EFA) was conducted on GPS-CCC.

Sex differences in the relationships between 24-h rest-activity patterns and plasma markers of Alzheimer's disease pathology.

Background: Although separate lines of research indicated a moderating role of sex in both sleep-wake disruption and in the interindividual vulnerability to Alzheimer's disease (AD)-related processes, the quantification of sex differences in the interplay between sleep-wake dysregulation and AD pathology remains critically overlooked. Here, we examined sex-specific associations between circadian rest-activity patterns and AD-related pathophysiological processes across the adult lifespan.

Methods: Ninety-two cognitively unimpaired adults (mean age = 59.

Sleep discrepancy and brain glucose metabolism in community-dwelling older adults.

Sleep discrepancy (negative discrepancy reflects worse self-reported sleep than objective measures, such as actigraphy, and positive discrepancy the opposite) has been linked to adverse health outcomes. This study is first to investigate the relationship between sleep discrepancy and brain glucose metabolism (assessed globally and regionally via positron emission tomography), and to evaluate the contribution of insomnia severity and depressive symptoms to any associations. Using data from cognitively unimpaired community-dwelling older adults ( = 68), cluster analysis was used to characterise sleep discrepancy (for total sleep time (TST), wake after sleep onset (WASO), and sleep efficiency (SE)), and logistic regression was used to explore sleep discrepancy's associations with brain glucose metabolism, while controlling for insomnia severity and depressive symptoms.

Prediction of Phenoconversion into Alpha-Synucleinopathy in Patients with isolated REM Sleep Behavior Disorder Using Event-Related Potentials During Visuospatial Attention Tasks.

Study Objectives: Isolated REM sleep behavior disorder (iRBD) is recognized as a prodromal stage of alpha-synucleinopathies. Predicting phenoconversion in iRBD patients remains a key challenge. We aimed to investigate whether event-related potentials (ERPs) recorded during visuospatial attention task can serve as predictors of phenoconversion in iRBD patients.

Human brain aging is associated with dysregulation of cell type epigenetic identity.

Significant links between aging and DNA methylation are emerging from recent studies. On the one hand, DNA methylation undergoes changes with age, a process termed as epigenetic drift. On the other hand, DNA methylation serves as a readily accessible and accurate biomarker for aging.

Favorable long-term outcomes of autoimmune nodopathy with mycophenolate mofetil.

Autoimmune nodopathy (AN) is a rare immune-mediated neuropathy characterized by autoantibodies against nodal or paranodal proteins. Patients with AN generally respond poorly to immunoglobulin therapy, and as a newly defined condition, there are currently no established treatment guidelines. Although rituximab shows potential as a therapeutic option, its high cost, limited availability, and the need for infusion monitoring hinder its use as a first-line treatment in many countries.

Digital approaches to chronic pain: A brief meta-review of eHealth interventions - Current evidence and future directions.

Digital approaches to chronic pain are emerging worldwide and rapidly gaining increased empirical support. This brief meta-review aims at providing a comprehensive overview of evidence and recommendations reported in recent reviews (2023-2024) on eHealth interventions for chronic pain promoting self-management. A systematic search provided 2041 records, of which 225 reviews were screened and 20 were synthesized.

Myeloid antigen-presenting cells in neurodegenerative diseases: a focus on classical and non-classical MHC molecules.

In recent years, increasing evidence has highlighted the critical role of myeloid cells, specifically those that present antigen (APCs) in health and disease. These shape the progression and development of neurodegenerative disorders, where considerable interplay between the immune system and neurons influences the course of disease pathogenesis. Antigen-presenting myeloid cells display different classes of major histocompatibility complex (MHC) and MHC-like proteins on their surface for presenting various types of antigens to a wide variety of T cells.

Arketamine alleviates cognitive impairments and demyelination in mice with postoperative cognitive dysfunction via TGF-β1 activation.

Postoperative cognitive dysfunction (POCD) is characterized by a decline in cognitive functions, including memory, attention, and executive abilities, following surgery, with no effective therapeutic drugs currently available. Arketamine, the (R)-enantiomer of ketamine, has shown promise in mitigating cognitive deficits in animal models. In this study, we investigated whether arketamine could ameliorate cognitive deficits in a mouse model of POCD, with a focus on the role of transforming growth factor (TGF)-β1 in its effects.

Alzheimer's disease prediction and prevention in a public health perspective: Ethical considerations and collaborations beyond the biomedical paradigm.

The prevention of dementia is increasingly a task for public health promotion and aims at the general public. This likewise holds for potentially modifiable lifestyle risk factors and biomarkers indicating susceptibility. This commentary argues that from a public health ethical perspective, there is a significant overlap between the implications and requirements of the biomedical domain and lifestyle approaches.

Perfusion Showdown: Comparison of Multiple MRI Perfusion Techniques in the Grading of Pediatric Brain Tumors.

Background And Purpose: There are multiple MRI perfusion techniques, with limited available literature comparing these techniques in the grading of pediatric brain tumors. For efficiency and limiting scan time, ideally only one MRI perfusion technique can be used in initial imaging. We compared DSC, DCE, and IVIM along with ADC from DWI for differentiating high versus low grade pediatric brain tumors.

Cis-Regulatory Evolution of CCNB1IP1 Driving Gradual Increase of Cortical Size and Folding in primates.

Neocortex expansion has a concerted relationship with folding, underlying evolution of human cognitive functions. However, molecular mechanisms underlying this significant evolutionary process remains unknown. Here, using tree shrew as an outgroup of primates, we identify a new regulator which acquired its expression before the emergence of primates.

The N-degron pathway mediates the autophagic degradation of cytosolic mitochondrial DNA during sterile innate immune responses.

The human body reacts to tissue damage by generating damage-associated molecular patterns (DAMPs) that activate sterile immune responses. To date, little is known about how DAMPs are removed to avoid excessive immune responses. Here, we show that proteasomal dysfunction induces the release of mitochondrial DNA (mtDNA) as a DAMP that activates the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon gene (STING) pathway and is subsequently degraded through the N-degron pathway.

An expert consensus statement on biomarkers of ageing for use in intervention studies.

Biomarkers of ageing serve as important outcome measures in longevity-promoting interventions. However, there is limited consensus on which specific biomarkers are most appropriate for human intervention studies. This work aimed to address this need by establishing an expert consensus on biomarkers of ageing for use in intervention studies via the Delphi method.

Irisin reprograms microglia through activation of STAT6 and prevents cognitive dysfunction after surgery in mice.

Postoperative cognitive dysfunction (POCD) is common in the aged population and associated with poor clinical outcomes. Irisin, an endogenous molecule that mediates the beneficial effects of exercise, has shown neuroprotective potential in several models of neurological diseases. Here we show that preoperative serum level of irisin is reduced in dementia patients over the age of 70.

Unravelling Education Needs for Clinical Practice Guideline Development: A Survey Performed in the Netherlands.

Objective: The development of clinical practice guidelines (CPG) has evolved into a rigorous and complex process. There is a need for training of CPG developers including methodologists, panel members and patient representatives. This study explored the educational needs and experiences of CPG developers, with specific attention to the patient perspective and economic considerations.

Novelty triggers time-dependent theta oscillatory dynamics in cortical-hippocampal-midbrain circuitry.

Rapid adaptation to novel environments is crucial for survival, and this ability is impaired in many neuropsychiatric disorders. Understanding neural adaptation to novelty exposure therefore has therapeutic implications. Here, I found that novelty induces time-dependent theta (4-12Hz) oscillatory dynamics in brain circuits including the medial prefrontal cortex (mPFC), ventral hippocampus (vHPC), and ventral tegmental area (VTA), but not dorsal hippocampus (dHPC), as mice adapt to a novel environment.

Implications of prenatal exposure to hyperandrogen for hippocampal neurodevelopment and autism-like behavior in offspring.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder that significantly jeopardizes the physical and mental well-being of children. Autism spectrum disorder results from a combination of environmental and genetic factors. Hyperandrogenic exposure during pregnancy increases their risk of developing autism.

Advancements in Immunity and Dementia Research: Highlights from the 2023 AAIC Advancements: Immunity Conference.

The immune system is a key player in the onset and progression of neurodegenerative disorders. While brain resident immune cell-mediated neuroinflammation and peripheral immune cell (eg, T cell) infiltration into the brain have been shown to significantly contribute to Alzheimer's disease (AD) pathology, the nature and extent of immune responses in the brain in the context of AD and related dementias (ADRD) remain unclear. Furthermore, the roles of the peripheral immune system in driving ADRD pathology remain incompletely elucidated.