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.

The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.

Aim: The role of vascular dementia (VaD)-associated genes in Alzheimer's disease (AD) remains elusive despite similar clinical and pathological features. We aimed to explore the relationship between these genes and AD in the Chinese population.

Methods: Eight VaD-associated genes were screened by a targeted sequencing panel in a sample of 3604 individuals comprising 1192 AD patients and 2412 cognitively normal controls.

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Neurodegenerative dementias are a group of diseases with highly heterogeneous pathology and complicated etiology. There exist potential genetic component overlaps between different neurodegenerative dementias. Here, 1795 patients with neurodegenerative dementias from South China were enrolled, including 1592 with Alzheimer's disease (AD), 110 with frontotemporal dementia (FTD), and 93 with dementia with Lewy bodies (DLB).

The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

Aims: NOTCH3 gene mutations predominantly cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a common etiology of subcortical vascular dementia (SVaD). Besides, there may be a pathogenic link between NOTCH3 variants and Alzheimer's disease (AD). We aimed to study the role of NOTCH3 variants in AD and SVaD patients.

Predicting the potential suitable habitats of and their changes.

is a rare and endangered relict fern species. With the Maxent model, we predicted the global potential suitable habitat and its future changes for . We evaluated the accuracy of our prediction based on the receiver operating characteristic curve (ROC), in order to provide reference for the protection, detection and cultivation of its resources.