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Introduction
Genetics, neuropsychology and neuroimaging of Alzheimer's disease, frontotemporal lobe degeneration and prion disease.
Additional affiliations
September 2010 - March 2012
August 2005 - present
August 2005 - present
Publications
Publications (152)
Frontotemporal Dementia (FTD) is a disease of high heterogeneity, apathy and disinhibition present in all subtypes of FTD and imposes a significant burden on families/society. Traditional neuroimaging analysis has limitations in elucidating the network localization due to individual clinical and neuroanatomical variability.
The study aims to identi...
Background
Vascular dysfunction was recently reported to be involved in the pathophysiological process of neurodegenerative diseases, but its role in sporadic behavioral variant frontotemporal dementia (bvFTD) remains unclear. The aim of this study was to systematically explore vascular dysfunction, including changes in white matter hyperintensitie...
Background
Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigate mutation frequencies, and assess the functional properties of TBK1 and OPTN variants.
Methods
Clinically diagnosed FTD patients underwent genetic analysis through exome sequencing, rep...
Objectives: To elucidate and compare the genetic, clinical, ancillary diagnostic, and pathological characteristics
across different Gerstmann-Str¨aussler-Scheinker disease (GSS) phenotypes and explore the underlying causes of
the phenotypic heterogeneities.
Methods: The genetic, clinical, ancillary diagnostic, and pathological profiles of GSS patie...
Objectives:
The glymphatic function has not yet been explored in behavioral variant frontotemporal dementia (bvFTD). The spatial correlation between regional glymphatic function and bvFTD remain unknown.
Method:
A total of 74 patients with bvFTD and 67 age- and sex-matched healthy controls (HCs) were selected from discovery dataset and replicati...
This case report describes a woman with Creutzfeldt-Jakob disease with findings largely confined to the right precentral gyrus on initial imaging.
Identifying coronavirus disease 2019 (COVID-19)-related encephalitis without clear etiological evidence is clinically challenging. The distinctions between this condition and other prevalent encephalitis types remain unknown. Therefore, we aimed to explore the similarities and differences in the clinical characteristics of COVID-19-related encephal...
Alzheimer's disease is characterized by deposition of amyloid-β protein (Aβ), which forms extracellular neuritic plaques, and accumulation of hyperphosphorylated tau, which aggregates to form intraneuronal neurofibrillary tangles, in the brain. The NLRP3 inflammasome may play a role in the transition from Aβ deposition to tau phosphorylation and ag...
Background
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1 . It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities.
Methods
We performed the whole‐exome sequencing for a patient in a Chinese family. The co‐segregation study...
Background
A feasible self-administered cognition scale with rigorous validation and high diagnostic accuracy is lacking for screening for cognitive impairment due to Alzheimer’s disease (AD).
Methods
An interactive cognitive self-assessment scale (CogSAS) was designed through the Delphi process, and 518 participants were subjected to item optimiz...
This case report describes 2 patients with genetic Creutzfeldt-Jakob disease with atypical changes on diffusion-weighted imaging.
Background
The vascular disturbance was recently found in a postmortem study of frontotemporal dementia (FTD), but whether vascular dysfunction exists in the early stage of FTD remains elusive. The study aimed to explore whether there was evidence of vascular dysfunction in FTD and its relationship with central neurodegeneration and the clinical ou...
Background
Although the pulvinar is known for its extensive connections with both ventral and dorsal visual streams, details of pulvinar functional connectivity in the setting of posterior cortical atrophy (PCA) remain unclearTo study pulvinar functional connectivity and relevant associations with higher visual dysfunction in PCA.
Method
A total o...
Background
Behavioral variant frontotemporal dementia (bvFTD) is predominantly considered a dysfunction in cortico‐cortical transmission, with limited direct investigation of cortical‐subcortical transmission. Thus, we aimed to characterize the metabolic connectivity between areas of the limbic cortico‐striato‐thalamic‐cortical (CSTC) circuit in pr...
Background
Progranulin (GRN) mutations of Frontotemporal dementia (FTD) were rarely reported in China. This study was to report one novel GRN mutation and summarize the genetic and clinical features of patients with GRN mutations in China.
Method
Comprehensive clinical, genetic, and neuroimaging examinations were conducted on a 58‐year‐old patient...
Background
The mild behavioral impairment checklist (MBI‐C) designed to capture neuropsychiatric symptoms in the whole spectrum of elder with or without dementia, have been verified in mild behavioral impairment, mild cognitive impairment and Alzheimer’s Disease, but never used in the behavioral variant of frontotemporal dementia (bvFTD).
Method
F...
Background
Research on posterior cortical atrophy (PCA) has concentrated on cognitive decline, especially visual processing deficits. However, few studies have focused on the activities of daily living (ADL), and no study has investigated the neurometabolic basis of ADL impairments. We aimed to identify regions of hypometabolism associated with ADL...
Background
The insula is the predominant brain region impaired in behavior variant frontotemporal dementia (bvFTD). However, structural and functional changes in the sub‐insula in the asymptomatic stage of bvFTD are unknown. The aim of this study is to describe structural and functional changes in insular subregions in asymptomatic carriers of the...
Purpose
To explore the transformational leadership competency of graduates from one medical university in China and its influencing variables.
Method
From 2020 to 2021, 851 medical graduates from seven hospitals affiliated with the Capital Medical University participated in this survey. The authors conducted a cross-sectional study to assess trans...
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, degenerative
prion disease, often characterized by rapidly progressive
dementia. The current classification of sporadic CJD (sCJD)
categorizes it into six primary subtypes: MM/MV1, MM2C,
MM2T, VV1, VV2, and MV2, based on the methionine (M)
and valine (V) polymorphism at codon 129 of the prion protei...
Background:
The mild behavioral impairment checklist (MBI-C) designed to capture neuropsychiatric symptoms in the whole spectrum of elder with or without dementia, have been verified in mild behavioral impairment, mild cognitive impairment and Alzheimer's Disease, but never used in the behavioral variant of frontotemporal dementia (bvFTD).
Method...
Background
Elucidate the clinical and ancillary feature of genetic prion diseases (gPrDs) presenting with frontotemporal lobar degeneration (FTLD) in order to aid early identification, diagnosis, and referral for genotype testing.
Method
Global data of gPrDs presenting with FTLD caused by prion protein gene (PRNP) mutations were collected from lit...
Background
Fatal familial insomnia (FFI) is a rare autosomal dominant inherited prion disease characterized by prominent organic sleep‐related impairment accompanied by a series of symptoms with strong clinical heterogeneity in a rapid progression. As the most significant clinical feature and the potential diagnostic marker of FFI, progressive symp...
Background
Abnormalities of neurodegenerative disease are not only involved in individual brain regions but also characterized by the alterations of a balance of connectomes. Graph theory is a novel approach to examine the balance of connectomes. However, the clinical relevance of white matter connectome changes in behavioral variant of frontotempo...
Background
Dysfunction of the thalamus has been proposed as a core mechanism of fatal familial insomnia. However, detailed metabolic and structural alterations in thalamic subnuclei are not well documented. We aimed to address the multimodal structuro‐metabolic pattern at the level of the thalamic nuclei in fatal familial insomnia patients, and inv...
Background
The diagnosis of Alzheimer’s disease relies on trained clinicians and specialized diagnostic tests. Under the circumstances of COVID‐19, the clinical interview is restricted, which caused an additional delay in diagnosis. Emerging demand for remote interactive cognitive assessment aroused for diagnosis and mass screening. We aimed to dev...
Background
The chromosome 9 open reading frame 72 (C9ORF72) has been proposed as the causative gene of frontotemporal dementia with parkinsonism (FTDP), but its pathophysiological mechanism of parkinsonism is poorly understood.
Method
To explore the roles of striatal motor subdivisions in the pathogenesis of parkinsonism resulting from C9ORF72 rep...
Background
Creutzfeldt–Jakob disease (CJD) is a devastating neurodegenerative disease caused by propagation of abnormally folded prion proteins (PrP Sc ). Some fluid biomarkers have been reported to be associated with disease duration in CJD. Based on studies which have found that prion protein (PrP C ) played a role in erythrocytic hematopoiesis,...
Background
Insomnia and thalamic involvement are hallmarks of fatal familial insomnia; however, it was occasionally reported that genetic E200K Creutzfeldt‐Jakob disease (CJD) patients had also manifested thalamic‐insomnia phenotype. The study aimed to explore the clinical and neuroimage characteristics of genetic E200K CJD by comprehensive neuroim...
Background
Early and accurate diagnosis of fatal familial insomnia (FFI) is critical for effective screening; however, this rare disease remains difficult to recognize. This work aimed to propose a new diagnostic criterion for fatal familial insomnia (FFI) with optimal sensitivity, specificity, and likelihood ratio.
Methods
An international group...
Background
Pathogenic prion protein may start to deposit in some brain regions and cause functional alterations in the asymptomatic stages in Creutzfeldt–Jakob disease patients. However, the disease trajectory of Creutzfeldt–Jakob disease in the asymptomatic stage and when and where the degenerative process begins are still not clear.
Methods
At b...
Objective:
To assess the proportion of clinically diagnosed MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) in a Chinese cohort, describe the clinical features of MM2-cortical (MM2C) and MM2-thalamic (MM2T) type sCJD to improve the early detection of MM2-type sCJD.
Methods:
A total of 209 patients with sCJD admitted to the Xuanwu Hospital bet...
Background:
The insula is the predominant brain region impaired in behavior variant frontotemporal dementia (bvFTD). However, structural and functional changes in the sub-insula in the asymptomatic stage of bvFTD are unknown.
Objective:
To describe structural and functional changes in insula subregions in asymptomatic carriers of the P301L mutat...
Studies focusing on octapeptide repeat alteration mutations in PRNP in Alzheimer's disease (AD) and frontotemporal dementia (FTD) cohorts have been rare. We aim to screen sporadic AD and FTD patients with unknown etiology for the octapeptide repeat insertions and deletions in PRNP. Two hundred and six individuals were screened for alterations to th...
Background:
The Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our understanding of this rare subtype.
Method:
HvCJD pat...
Background:
There is growing evidence that the striatum plays a central role in cognitive dysfunction. However, it remains unclear whether and how the striatum contributes specifically to executive deficits in Alzheimer disease (AD). We sought to elucidate aberrations in the striatal subregion associated with executive function and its metabolic c...
Background:
Research on posterior cortical atrophy (PCA) has focused on cognitive decline, especially visual processing deficits. However, few studies have examined the effects of PCA on activities of daily living (ADL) and their neurofunctional and neuroanatomic bases.
Objective:
To identify brain regions associated with ADL in PCA patients.
M...
Background:
Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less frequently reported in China than in Western countries.
Objective:
This study reports a novel GRN mutation and summarizes the genetic and clinical features of patients with GRN mutations in China.
Methods:
Comprehensive clinical, genetic, and neuroimaging e...
Background
Neuroinflammation plays a significant role in the progression of frontotemporal dementia (FTD). However, the association between peripheral inflammatory factors and brain neurodegeneration is poorly understood. We aimed to examine changes in peripheral inflammatory markers in patients with behavioural variant FTD (bvFTD) and explore the...
Introduction
Creutzfeldt-Jakob disease (CJD) is a fatal and irreversible neurodegenerative disease. Identification of inexpensive and easy-to-implement biomarkers of CJD which could predict disease severity and patient survival is important for improving disease management. The aim of this study was to assess the predictive value of peripheral neut...
Graph theory is a novel approach used to examine the balance of brain connectomes. However, the clinical relevance of white matter (WM) connectome changes in the behavioral variant of frontotemporal dementia (bvFTD) is not well understood. We aimed to investigate the clinical relevance of WM topological alterations in bvFTD. Thirty patients with pr...
Objective:
To elucidate the clinical profile of sporadic fatal insomnia (sFI), assess the similarities and differences between sFI and fatal familial insomnia (FFI), and evaluate the influence of ethnicity on the phenotype of sFI patients.
Methods:
The data of sFI and FFI patients was retrieved from our case series and through literature review....
Background
Behavioral variant frontotemporal dementia (bvFTD) is predominantly considered a dysfunction in cortico-cortical transmission, with limited direct investigation of cortical-subcortical transmission. Thus, we aimed to characterize the metabolic connectivity between areas of the limbic cortico-striato-thalamic-cortical (CSTC) circuit in pr...
Background
In most patients with frontotemporal lobe degeneration (FTLD), the degenerative process begins between the ages 45 and 65 years; onset younger than 45 years is relatively rare and considered very early onset FTLD (VEO-FTLD).
Objective
To delineate the clinical, genetic, and pathological features of VEO-FTLD.
Methods
A systematic litera...
Posterior cortical atrophy (PCA) is a clinically defined syndrome characterized by impairment in higher‐order visual processing. The underlying pathology in PCA is most commonly Alzheimer’s disease (AD), but large‐scale biomarker and neuropathological studies are lacking. In this ongoing project we aim to describe demographic, clinical, biomarker a...
Study objectives:
Although sympathetic hyperactivity with preserved parasympathetic activity has been extensively recognized in fatal familial insomnia (FFI), the symptoms of parasympathetic nervous system failure observed in some patients are difficult to explain. Using heart rate variability (HRV), this study aimed to discover evidence of parasy...
Background
Meningeal carcinomatosis is mainly associated with breast cancer, lung cancer, and melanoma. However, meningeal carcinomatosis secondary to a neurenteric cyst with malignant features is extremely rare.
Case presentation
We report the case of a 35-year-old woman who was admitted to the hospital with a 10-month history of headache, 6-mont...
Introduction
Hereditary spastic paraplegias (HSPs) are genetic neurodegenerative diseases. The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type 4 (SPG4), which is caused by mutations in the SPAST gene. Different theories have been proposed as the mechanism underlying SPAST-HSP for different t...
The majority of seven-octapeptide repeat insertion (7-OPRI) carriers exhibit relatively early onset and a slowly progressive course. We have presented three cases of 7-OPRI, including two that are rapidly progressing, and compared the clinical and ancillary characteristics of the short-term and long-term disease course, as well as factors that infl...
Background:
In most cases, the onset of frontotemporal dementia (FTD) occurs between the ages of 45 and 65 years. However, some patients experience an extremely early disease onset.
Objective:
To investigate the clinical, genetic, and pathological features of extremely early-onset FTD.
Methods:
We conducted a comprehensive clinical, genetic, a...
The chromosome 9 open reading frame 72 (C9ORF72) has been proposed as the causative gene of frontotemporal dementia with parkinsonism (FTDP), but its pathophysiological mechanism of parkinsonism is poorly understood. To explore the roles of striatal motor subdivisions in the pathogenesis of parkinsonism resulting from C9ORF72 repeat expansions in t...
Introduction: Creutzfeldt-Jakob disease (CJD) is a fatal and irreversible neurodegenerative disease. Identification of inexpensive and easy-to-implement biomarkers of CJD which could predict disease severity and patient survival is important for improving disease management. The aim of this study was to assess the predictive value of peripheral neu...
Background
The understanding of fatal familial insomnia (FFI), a rare neurodegenerative autosomal dominant prion disease, has improved in recent years as more cases were reported. This work aimed to propose new diagnostic criteria for FFI with optimal sensitivity, specificity, and likelihood ratio.
Methods
An international group of experts was est...
Background
Pathogenic prion protein may start to deposit in some brain regions and cause functional alterations in the asymptomatic stage in Creutzfeldt–Jakob disease. The study aims to determine the trajectory of the brain metabolic changes for prion protein diseases at the preclinical stage.
Methods
At baseline, we enrolled five asymptomatic PRN...
Background
To elucidate the clinical and ancillary features of genetic prion diseases (gPrDs) presenting with frontotemporal dementia (FTD) to aid early identification.
Methods
Global data of gPrDs presenting with FTD caused by prion protein gene mutations were collected from literature review and our records. Fifty-one cases of typical FTD and 13...
Simultanagnosia is a common symptom of posterior cortical atrophy, and its association with brain structural and functional changes remains unclear. In our study, 18 posterior cortical atrophy patients with simultanagnosia, 29 patients with Alzheimer’s disease and 20 cognitively normal controls were recruited and subjected to full neuropsychologica...
Background:
Insomnia and thalamic involvement were frequently reported in patients with genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutations, suggesting E200K might have discrepancy with typical sporadic CJD (sCJD). The study aimed to explore the clinical and neuroimage characteristics of genetic E200K CJD patients by comprehensive neuroi...
Background
Dysfunction of the thalamus has been proposed as a core mechanism of fatal familial insomnia. However, detailed metabolic and structural alterations in thalamic subnuclei are not well documented. We aimed to address the multimodal structuro-metabolic pattern at the level of the thalamic nuclei in fatal familial insomnia patients, and inv...
Background
Studies exploring topological properties of the metabolic network during the presymptomatic stage of genetic frontotemporal dementia (FTD) are scarce. However, such knowledge is important for understanding brain function and disease pathogenesis. Therefore, we aimed to explore FTD-specific patterns of metabolism topology reconfiguration...
Objective
To explore the roles of striatal subdivisions in the pathogenesis of frontotemporal dementia with parkinsonism (FTDP) in a patient resulting from prion protein gene (PRNP) mutation.
Methods
This patient received clinical interviews and underwent neuropsychological assessments, genetic testing, [ ¹⁸ F]-fluorodeoxyglucose positron emission...
Background
Creutzfeldt–Jakob disease (CJD) is a devastating neurodegenerative disease caused by propagation of abnormally folded prion proteins (PrPSc). Some fluid biomarkers have been reported to be associated with disease duration in CJD. Based on studies which have found that prion protein (PrPC) played a role in erythrocytic hematopoiesis, we e...
Background
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie a diverse group of dominantly inherited nondystroph...
As an opportunistic phytopathogen, Sarocladium strictum has only been shown to cause neurological disease in immunocompromised patients, where antifungal therapy was not effective. We report a case of Sarocladium strictum meningoencephalitis in an apparently immunocompetent young woman who presented with severe headache and slight fever after under...
Background:
The anterior cingulate cortex (ACC) seems to play an important role in behavioral deficits and executive dysfunctions in patients with behavior-variant frontotemporal dementia (bvFTD), while its specific and independent contribution requires clarification.
Objective:
To identify whether ACC abnormalities in gray matter (GM) volume an...
Objective
Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI).
Methods
A worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing were collected. The prevalence of clinical symptom...
Background
Myelin oligodendrocyte glycoprotein-antibody (MOG-ab)-associated disease (MOGAD) has highly heterogenous clinical and imaging presentations, in which encephalitis is an important phenotype. In recent years, some atypical presentations in MOG-ab-associated encephalitis (MOG-E) have been increasingly reported but have not yet been describe...
Background
Behavioral variant frontotemporal dementia (bvFTD) is a clinically heterogeneous syndrome with high heredity. However, the frequencies of mutations associated with bvFTD have yet to be determined. The aim of the current study was to investigate the frequency of Chinese Han patients harboring genetic bvFTD variants.
Methods
A total of 49...
Background
Until now, epidemiological evidence regarding the association between vitamin C intake (both diet and supplements) and Parkinson’s disease (PD) remains inconsistent. Hence, it is necessary to establish the causal link between vitamin C levels and PD, and further develop effective therapies or prevention.
Methods
We selected 11 newly ide...
Objective
The objective of the study was to explore patterns of white matter (WM) alteration in preclinical stage familial Creutzfeldt–Jakob disease (fCJD) using diffusion tensor imaging (DTI).
Methods
Seven asymptomatic carriers of the PRNP G114V mutation and six non-carriers were recruited from the same fCJD kindred and follow-up obtained from a...
Background:
This study assessed the effectiveness of 4 different repeated remote ischaemic preconditioning (RIPC) protocols varying in duration and frequency for preventing acute mountain sickness (AMS) after rapid ascent to high altitude.
Methods:
In a randomized but not blinded design, participants were assigned to receive either of the four R...
Background/purpose:
Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associat...
Covering the spectrum of cognitive decline in aging using illustrative cases, from mild impairment to dementia, this set of case studies offers a wide-ranging guide for trainees and clinicians. This second volume includes updated research diagnostic criteria and details of new imaging technology, including novel biomarkers such as PET amyloid and t...
Glucose metabolism reduction and brain volume losses are widely reported in Alzheimer's disease (AD). Considering that neuroimaging changes in the hippocampus and default mode network (DMN) are promising important candidate biomarkers and have been included in the research criteria for the diagnosis of AD, it is hypothesized that atrophy and metabo...
Posterior cortical atrophy (PCA) is widely considered as an atypical variant of Alzheimer disease and is characterized by a progressive decline in visual function. PCA has been investigated from the standpoints of brain structure and metabolism, but tau deposition and its relationship to disease severity still remain unclear. Here, we used a novel...
Previous genome-wide association studies have identified dozens of susceptibility loci for sporadic Alzheimer’s disease, but few of these loci have been validated in longitudinal cohorts. Establishing predictive models of Alzheimer’s disease based on these novel variants is clinically important for verifying whether they have pathological functions...
Background:
Communication skill is a core competency in neurology residency training. Specific training in this area at the residency level is often lacking, especially regarding difficult conversations. The aim of this study is to evaluate the current state in teaching residents about difficult conversations in 5 Chinese accredited neurology resi...
Background:
Pathologic processes in Creutzfeldt-Jakob disease (CJD) are not fully understood. Familial CJD (fCJD) gives opportunities to discover pathologic changes in the preclinical stage.
Objective:
To investigate cerebral glucose metabolism in the preclinical stage via 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) in fCJD...
As severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), the virus that causes COVID‐19, is highly infectious and variable, and given that we now understand a large proportion of asymptomatic carriers can be still infectious [1], it is expected that a normalization of epidemic prevention and control measures will be required for a long time...
Background : To explore the patterns of white matter (WM) alterations using diffusion tensor imaging (DTI) in the preclinical stage of familial Creutzfeldt-Jakob disease (fCJD) .
Methods: 7 asymptomatic carriers of PRNP G114V mutation and 6 non-carriers from the same fCJD kindred were recruited at baseline. Follow-up was obtained in 7 asymptomatic...
Backgroud
Posterior cortical atrophy (PCA) is a rare neurodegenerative disease characterized by impairments in visual processing and in other relatively selective posterior cortical functions, mainly involving occipito-parietal regions. As the most common and important clinical manifestation, simultanagnosia is a profound inability of a patient wit...
Background Communication skill is a core competency in neurology residency training. Specific training in this area at the residency level is often lacking, especially regarding difficult conversations. The aim of this study is to evaluate the current state in which neurology programs in China teach residents about difficult conversations and deter...
Background: Communication skill is a core competency in neurology residency training. Specific training in this area at the residency level is often lacking, especially regarding difficult conversations. The aim of this study is to evaluate the current state in teaching residents about difficult conversations in 5 Chinese accredit neurology residen...
Background: Communication skill is a core competency in neurology residency training. Specific training in this area at the residency level is often lacking, especially regarding difficult conversations. The aim of this study is to evaluate the current state in teaching residents about difficult conversations in 5 Chinese accredited neurology resid...
Objective: To compare the features of a modified WHO/UCLA AVLT performance in the cognitive normal, amnestic mild cognitive impairment (aMCI) and mild Alzheimer's disease (mild AD) patients. Method: A total of 105 cases of cognitivenormal (CN), 48 aMCI and 50 mild AD patients were included between 2016 and 2018. All subjects undertook detailed neur...
Hypocretin 1 and hypocretin 2 (orexin A and B) regulate sleep, wakefulness and emotion. Tumour necrosis factor alpha (TNF‐α) is an important neuroinflammation mediator. Here, we examined the effects of TNF‐α treatment on hypocretin expression in vivo and behaviour in mice. TNF‐α decreased hypocretin 1 and hypocretin 2 expression in a dose‐dependent...
Background:
The Mild Behavioral Impairment Checklist (MBI-C), a screening scale for neuropsychiatric symptom evaluation, facilitates Alzheimer's disease (AD) screening. However, its validity and reliability for use as an AD screening tool have not been determined.
Objective:
To develop an AD screening scale suitable for the Chinese population....
Clinical case study and functional characterization of the disease-associated presenilin-1 (PSEN1) mutations may help reveal the roles of PSEN1 in the pathogenesis of Alzheimer's disease (AD). By mutation screening of PSEN1, presenilin-2, and amyloid precursor protein genes in two Chinese Alzheimer's pedigrees, we identified two novel PSEN1 mutatio...
For early-onset Alzheimer's disease (EOAD) cases with unclear family history, most cases are sporadic. Some cases are positive in genetic findings, that is, either incomplete penetrance or de novo mutation. We aimed to focus on EOAD cases with de novo mutations. Case reports and literature review were performed. The implication for diagnostic appro...
Study objectives:
The aim of this study is to detect the features of sleep disorder via polysomnography (PSG) based on Chinese pedigree of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17).
Methods:
Five members (two symptomatic patients and three patients with a presymptomatic mutation) from the FTDP-17 pedigree were e...