Gray matter structural alterations in idiopathic rapid eye movement sleep behavior disorder: A voxel-based meta-analysis.

Background: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is a robust prodromal marker of α-synucleinopathies. Increased neuroimaging studies have explored the morphological abnormalities in iRBD, but yielded inconsistent results.

Methods: We conducted a systematic review and a voxel-wise meta-analysis of whole-brain voxel-based morphometry (VBM) studies using the anisotropic effect size version of seed-based d mapping (AES-SDM) to investigate gray matter volume (GMV) alterations in iRBD.

Altered gait speed and brain network connectivity in Parkinson's disease.

Slow gait speed and disrupted brain network connectivity are common in patients with Parkinson's disease (PD). This study aimed to clarify the relationship between gait speed and clinical characteristics in PD, and explore the underlying brain network mechanisms. Forty-two PD patients and 20 healthy controls (HC) were recruited.

Mutation Screening of ATXN1, ATXN2, and ATXN3 in Amyotrophic Lateral Sclerosis.

Emerging evidence suggests potential disease modifying roles of ATXN1, ATXN2, and ATXN3 in amyotrophic lateral sclerosis (ALS). We aimed to provide a comprehensive variants profile of the ATXN1, ATXN2, and ATXN3 genes and examine the association of these variants with the risk and clinical characteristics of ALS. We screened and analyzed the rare variants in a cohort of 2220 ALS patients from Southwest China, using controls from the Genome Aggregation Database (gnomAD) and the China Metabolic Analytics Project (ChinaMAP).

Advancements in Pharmacological Treatment of Alzheimer's Disease: The Advent of Disease-Modifying Therapies (DMTs).

The landscape of pharmacological treatment for Alzheimer's disease (AD) has undergone significant transformations with the advent of disease-modifying therapies (DMTs) targeting β-Amyloid (Aβ) accumulation, one of the hallmark pathologies of AD. The approval and market introduction of monoclonal antibodies mark the dawn of a new era in AD therapeutics as well. Furthermore, considerable progress has also been made in the development of new drugs targeting non-Aβ and non-Tau protein pathways.

Diagnostic value and correlation analysis of serum cytokine levels in patients with multiple system atrophy.

Background: The association between cytokines in peripheral blood and clinical symptoms of multiple system atrophy (MSA) has been explored in only a few studies with small sample size, and the results were obviously controversial. Otherwise, no studies have explored the diagnostic value of serum cytokines in MSA.

Methods: Serum cytokines, including interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor alpha (TNF-α), were measured in 125 MSA patients and 98 healthy controls (HCs).

Downregulation of Lnc-ABCA12-3 modulates UBQLN1 expression and protein homeostasis pathways in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neuron degeneration. Dysregulation of long non-coding RNAs (lncRNAs) has been implicated in ALS pathogenesis but their roles remain unclear. Previous studies found lnc-ABCA12-3 was downregulated in ALS patients.

Comparison of spontaneous brain activity in distinguishing parkinsonian variant of multiple system atrophy from Parkinson's disease at an early stage.

Background: The overlapping clinical manifestations in parkinsonian variant of multiple system atrophy (MSA-P) and Parkinson's Disease (PD) can complicate clinical diagnostic accuracy, particularly in the early stage. The study aims to uncover the patterns of brain function in the initial phase of the two conditions.

Methods: We recruited 24 MSA-P patients, 34 PD patients and 27 healthy controls (HC).

Total physical activity, plant-based diet and neurodegenerative diseases: A prospective cohort study of the UK biobank.

Introduction: Neurodegenerative diseases (NDDs) result from a complex interplay of genetic, environmental and aging factors. A balanced diet and adequate physical activity (PA) are recognized as pivotal components among modifiable environmental factors. The independent impact on NDD incidence has been previously debated.

Protective role of serum albumin in dementia: a prospective study from United Kingdom biobank.

Background: A number of studies have explored the link between neurodegenerative disorders (NDDs) and albumin, the main protein in human plasma. However, the results have been inconsistent, highlighting the necessity for a detailed systemic analysis.

Methods: Utilizing data from the United Kingdom Biobank, we investigated the relationship between baseline levels of serum and urine albumin and the occurrence of common NDDs, including Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and dementia, employing Cox proportional hazards regression analysis.

Genotype-phenotype correlation of variants in patients with amyotrophic lateral sclerosis.

Background: Several variants of sequestosome 1 () were screened in patients with amyotrophic lateral sclerosis (ALS), while the pathogenicity and genotype-phenotype correlation remains unclear.

Methods: We screened variants of gene in 2011 Chinese patients with ALS and performed a burden analysis focusing on the rare variants. Furthermore, we conducted a comprehensive analysis of patients with variants of gene in patients with ALS from our cohort and published studies.

Associations of sugar intake, high-sugar dietary pattern, and the risk of dementia: a prospective cohort study of 210,832 participants.

Background: Limited evidence demonstrated the potential relationship between dietary sugar intake and dementia. This association demands further clarification in a large-scale population.

Methods: A total of 210,832 participants from the UK Biobank cohort were included in this prospective cohort study.

Analysis of the Association Between Pathogen Exposure and the Risk of Dementia.

Background: Previous research has suggested that pathogen infections may serve as potential contributors to dementia.

Objective: Consequently, the study aimed to evaluate whether pathogen exposure heightens the risk of dementia.

Methods: Between 2006 and 2010, a total of 8,144 individuals from the UK Biobank had data on pathogen antibodies and were included in the baseline assessment.

Association of Autoimmune Diseases with the Risk of Parkinson's Disease.

Introduction: PD is a progressive neurodegeneration disease characterized by cardinal motor symptoms such as bradykinesia and tremor. The pathogenesis of PD remains unclear. It is hypothesized that immune system dysfunction may contribute to PD.

Gray matter alterations in Huntington's disease: A meta-analysis of VBM neuroimaging studies.

Increasing neuroimaging studies have attempted to identify biomarkers of Huntington's disease (HD) progression. Here, we conducted voxel-based meta-analyses of voxel-based morphometry (VBM) studies on HD to investigate the evolution of gray matter volume (GMV) alterations and explore the effects of genetic and clinical features on GMV changes. A systematic review was performed to identify the relevant studies.

Albumin and multiple sclerosis: a prospective study from UK Biobank.

Background: Multiple sclerosis (MS) is a chronic inflammatory disease affecting the central nervous system. While previous studies have indicated that albumin, the primary protein in human plasma, may exert influence on the inflammatory process and confer beneficial effects in neurodegenerative disorders, its role in the context of MS has been underexplored. Here, we aimed to explore the link between albumin and the risk of MS.

A novel mutation in SORD gene associated with distal hereditary motor neuropathies.

Background: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70-80% of those with the condition are still unable to receive a genetic diagnosis.

Methods: A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our hospital, and data on clinical features, laboratory tests, and electrophysiological tests were collected.

MMGPL: Multimodal Medical Data Analysis with Graph Prompt Learning.

Prompt learning has demonstrated impressive efficacy in the fine-tuning of multimodal large models to a wide range of downstream tasks. Nonetheless, applying existing prompt learning methods for the diagnosis of neurological disorder still suffers from two issues: (i) existing methods typically treat all patches equally, despite the fact that only a small number of patches in neuroimaging are relevant to the disease, and (ii) they ignore the structural information inherent in the brain connection network which is crucial for understanding and diagnosing neurological disorders. To tackle these issues, we introduce a novel prompt learning model by learning graph prompts during the fine-tuning process of multimodal models for diagnosing neurological disorders.

Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation.

Background: Aberrant DNA methylation alterations are implicated in amyotrophic lateral sclerosis (ALS). Nevertheless, the influence of genetic variants in genes regulating DNA methylation on ALS patients is not well understood. Therefore, we aim to provide a comprehensive variant profile of genes related to DNA methylation (DNMT1, DNMT3A, DNMT3B, DNMT3L) and demethylation (TET1, TET2, TET3, TDG) and to investigate the association of these variants with ALS.

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.

Background: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterised by progressive degeneration of motor neurons. Genetic factors have a substantial impact on ALS. Therefore, this study aimed to explore the correlation between genotype () and phenotype in ALS.

Peripheral immunity involvement in the cognitive impairment of sporadic amyotrophic lateral sclerosis.

Background: Recent research has indicated the significance of immune activation in amyotrophic lateral sclerosis (ALS). However, the impact of peripheral immunity on cognitive impairment in sporadic ALS remains poorly characterized. Therefore, we aim to assess the relationship between peripheral immune parameters and cognitive impairment in patients with sporadic ALS.

GWAS Identifies DPP6 as Risk Gene of Cognitive Decline in Parkinson's Disease.

Background: Cognitive decline is among the most common non-motor symptoms in Parkinson's disease (PD), while its physiological mechanisms remain poorly understood. Genetic factors constituted a fundamental determinant in the heterogeneity of cognitive decline among PD patients. However, the underlying genetic background was still less studied.

Alzheimer's disease and oral manifestations: a bi-directional Mendelian randomization study.

Background: Epidemiological studies have provided evidence suggesting an association between Alzheimer's disease (AD) and various oral manifestations. However, conflicting conclusions have been drawn, and whether a causal association truly exists remains unclear.

Methods: In order to investigate the potential causal association between AD and prevalent oral diseases, we conducted a bi-directional two-sample Mendelian randomization analysis based on summary statistics from genome-wide association studies of AD ( = 63,926), as well as mouth ulcer ( = 461,103), oral cavity cancer ( = 4,151), and periodontal disease ( = 527,652).