Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population.

Genetic investigations and associations with plasma biomarkers of dementia with Lewy bodies (DLB) in East Asian populations are lacking. The aim of our study is to identify candidate pathogenic variants and assess the diagnostic performance of plasma biomarkers among DLB patients in the Chinese population. This cohort included 151 DLB patients and 2010 controls, all of whom underwent whole genome sequencing.

Evaluating the diagnostic performance of six plasma biomarkers for Alzheimer's disease and other neurodegenerative dementias in a large Chinese cohort.

Background: Ethnic variations and detection methods may lead to differences in diagnostic biomarkers of dementia, and few comparative studies have evaluated the six plasma biomarkers of Alzheimer's disease (AD) and other neurodegenerative dementias in the Chinese population.

Methods: A cross-sectional cohort of 668 participants were enrolled, including 245 amnesic mild cognitive impairment (aMCI) or AD patients with Aβ positive pathology, 67 with frontotemporal dementia (FTD), 100 with progressive supranuclear palsy (PSP), 72 with dementia with Lewy bodies (DLB) and 184 healthy controls. Additionally, a longitudinal subset of 19 aMCI and 30 AD patients was followed for an average period of 1 year.

Development and validation of machine learning models with blood-based digital biomarkers for Alzheimer's disease diagnosis: a multicohort diagnostic study.

Background: Alzheimer's disease (AD) involves complex alterations in biological pathways, making comprehensive blood biomarkers crucial for accurate and earlier diagnosis. However, the cost-effectiveness and operational complexity of method using blood-based biomarkers significantly limit its availability in clinical practice.

Methods: We developed low-cost, convenient machine learning-based with digital biomarkers (MLDB) using plasma spectra data to detect AD or mild cognitive impairment (MCI) from healthy controls (HCs) and discriminate AD from different types of neurodegenerative diseases.

Accurate Diagnosis of Alzheimer's Disease Using Specific Breath Volatile Organic Compounds.

Whether volatile organic compounds (VOCs) from exhaled breath can be used as a novel biomarker for Alzheimer's disease (AD) diagnosis is unclear. To determine the significantly distinctive VOCs for AD, a total of 970 participants were enrolled, including 60 individuals in data set 1 (AD, 30; controls, 30), 164 individuals in data set 2 (AD, 82; controls, 82), 637 individuals in data set 3 (AD, 31; controls, 606), and 109 individuals in data set 4 (frontotemporal dementia, 19; vascular dementia, 21; Parkinson's disease, 69). The participants in data sets 1, 2, and 4 were from Xiangya Hospital, Central South University.

A detection model of cognitive impairment via the integrated gait and eye movement analysis from a large Chinese community cohort.

Introduction: Whether the integration of eye-tracking, gait, and corresponding dual-task analysis can distinguish cognitive impairment (CI) patients from controls remains unclear.

Methods: One thousand four hundred eighty-one participants, including 724 CI and 757 controls, were enrolled in this study. Eye movement and gait, combined with dual-task patterns, were measured.

The prevalence and risk factors study of cognitive impairment: Analysis of the elderly population of Han nationality in Hunan province, China.

Objective: A large number of studies have found that the prevalence of cognitive impairment varies in different regions. However, data on cognitive impairment in the Chinese population is still lacking. The goal of this study was to assess the prevalence of cognitive impairment among the elderly in a region of China and explore the associated risk factors.

Clinical features of progressive supranuclear palsy.

Background: Progressive supranuclear palsy (PSP) is a clinically heterogenous atypical parkinsonian syndrome. Therefore, early recognition and correct diagnosis of PSP is challenging but essential. This study aims to characterize the clinical manifestations, magnetic resonance imaging (MRI), and longitudinal MRI changes of PSP in China.

Brain-derived extracellular vesicles promote bone-fat imbalance in Alzheimer's disease.

Inadequate osteogenesis and excessive adipogenesis of bone marrow mesenchymal stem cells (BMSCs) are key factors in the pathogenesis of osteoporosis. Patients with Alzheimer's disease (AD) have a higher incidence of osteoporosis than healthy adults, but the underlying mechanism is not clear. Here, we show that brain-derived extracellular vesicles (EVs) from adult AD or wild-type mice can cross the blood-brain barrier to reach the distal bone tissue, while only AD brain-derived EVs (AD-B-EVs) significantly promote the shift of the BMSC differentiation fate from osteogenesis to adipogenesis and induce a bone-fat imbalance.

A detection model for cognitive dysfunction based on volatile organic compounds from a large Chinese community cohort.

Introduction: We explored whether volatile organic compound (VOC) detection can serve as a screening tool to distinguish cognitive dysfunction (CD) from cognitively normal (CN) individuals.

Methods: The cognitive function of 1467 participants was assessed and their VOCs were detected. Six machine learning algorithms were conducted and the performance was determined.

Correlation between retinal structure and brain multimodal magnetic resonance imaging in patients with Alzheimer's disease.

Background: The retina imaging and brain magnetic resonance imaging (MRI) can both reflect early changes in Alzheimer's disease (AD) and may serve as potential biomarker for early diagnosis, but their correlation and the internal mechanism of retinal structural changes remain unclear. This study aimed to explore the possible correlation between retinal structure and visual pathway, brain structure, intrinsic activity changes in AD patients, as well as to build a classification model to identify AD patients.

Methods: In the study, 49 AD patients and 48 healthy controls (HCs) were enrolled.

Neural biomarker diagnosis and prediction to mild cognitive impairment and Alzheimer's disease using EEG technology.

Background: Electroencephalogram (EEG) has emerged as a non-invasive tool to detect the aberrant neuronal activity related to different stages of Alzheimer's disease (AD). However, the effectiveness of EEG in the precise diagnosis and assessment of AD and its preclinical stage, amnestic mild cognitive impairment (MCI), has yet to be fully elucidated. In this study, we aimed to identify key EEG biomarkers that are effective in distinguishing patients at the early stage of AD and monitoring the progression of AD.

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with aging, environmental, and genetic factors. Amyloid protein precursor () is a known pathogenic gene for familial Alzheimer's disease (FAD), and now more than 70 mutations have been reported, but the genotype-phenotype correlation remains unclear. In this study, we collected clinical data from patients carrying APP mutations defined as pathogenic/likely pathogenic according to the American college of medical genetics and genomics (ACMG) guidelines.

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Aim: The associations of non-pathogenic variants of APP, PSEN1, and PSEN2 with Alzheimer's disease (AD) remain unclear. This study is aimed at determining the role of these variants in AD.

Methods: Our study recruited 1154 AD patients and 2403 controls.

CYLD variants identified in Alzheimer's disease and frontotemporal dementia patients.

Objectives: CYLD was a novel causative gene for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. Given the clinical and pathological overlap of FTD and Alzheimer's disease (AD), it is necessary to screen CYLD in AD patients and FTD patients in the Chinese population.

Methods: In our study, using a targeted sequencing panel, we sequenced the CYLD gene in a large cohort of 2485 participants in the Chinese population, including 1008 AD patients, 105 FTD patients, and 1372 controls.

Cerebrospinal Fluid Synaptosomal-Associated Protein 25 Levels in Patients with Alzheimer's Disease: A Meta-Analysis.

Background: Several studies have shown increased levels of cerebrospinal fluid (CSF) synaptosomal-associated protein 25 (SNAP-25) in patients with Alzheimer's disease (AD). However, results have been inconsistent thus far.

Objective: We conducted meta-analyses summarizing the associations of CSF SNAP-25 levels with AD to assess the utility of SNAP-25 as a novel biomarker for AD.

Genetics of progressive supranuclear palsy in a Chinese population.

Background: Genetics plays an important role in progressive supranuclear palsy (PSP) and remains poorly understood. A detailed literature search identified 19 PSP-associated genes: MAPT, LRRK2, LRP10, DCTN1, GRN, NPC1, PARK, TARDBP, TBK1, BSN, GBA, STX6, EIF2AK3, MOBP, DUSP10, SLCO1A2, RUNX2, CXCR4, and APOE. To date, genetic studies on PSP have focused on Caucasian population.

Variants in the Niemann-pick type C genes are not associated with Alzheimer's disease: a large case-control study in the Chinese population.

Despite the similar clinical and pathological features between Niemann-Pick type C (NPC) disease and Alzheimer's disease (AD), few studies have investigated the role of NPC genes in AD. To elucidate the role of NPC genes in AD, we sequenced NPC1 and NPC2 in 1192 AD patients and 2412 controls. Variants were divided into common variants and rare variants according to minor allele frequency (MAF).

Primary familial brain calcification in a patient with a novel compound heterozygous mutation in presenting with an acute ischemic stroke: a case report.

Primary familial brain calcification (PFBC) is known as Fahr's disease (FD) or familial idiopathic basal ganglia calcification (FIBGC). PFBC is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition. Currently, pathogenic variants in six genes (, , and ) have been associated with PFBC.

Associations of risk genes with onset age and plasma biomarkers of Alzheimer's disease: a large case-control study in mainland China.

Most genetic studies concerning risk genes in Alzheimer's disease (AD) are from Caucasian populations, whereas the data remain limited in the Chinese population. In this study, we systematically explored the relationship between AD and risk genes in mainland China. We sequenced 33 risk genes previously reported to be associated with AD in a total of 3604 individuals in the mainland Chinese population.

Association Between Serum Vitamins and the Risk of Alzheimer's Disease in Chinese Population.

Background: Alzheimer's disease (AD) is a chronic and fatal neurodegenerative disease; accumulating evidence suggests that vitamin deficiency is associated with the risk of AD. However, studies attempting to elucidate the relationship between vitamins and AD varied widely.

Objective: This study aimed to investigate the relationship between serum vitamin levels and AD in a cohort of the Chinese population.

Performance of Plasma Amyloid β, Total Tau, and Neurofilament Light Chain in the Identification of Probable Alzheimer's Disease in South China.

Alzheimer's disease (AD) is the most common type of dementia and has no effective treatment to date. It is essential to develop a minimally invasive blood-based biomarker as a tool for screening the general population, but the efficacy remains controversial. This cross-sectional study aimed to evaluate the ability of plasma biomarkers, including amyloid β (Aβ), total tau (t-tau), and neurofilament light chain (NfL), to detect probable AD in the South Chinese population.