Abstract:
BACKGROUND:Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. METHODS:We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese patients. Amyloid load using (11)C-labeled Pittsburgh compound B ((11)C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using (18)F-fludeoxyglucose PET were evaluated in patients carrying mutations. RESULTS:We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients. The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The PSEN2 (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with PSEN2 mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. CONCLUSION:PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the PSEN2 gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization.
journal_name
Dement Geriatr Cogn Disordjournal_title
Dementia and geriatric cognitive disordersauthors
Shi Z,Wang Y,Liu S,Liu M,Liu S,Zhou Y,Wang J,Cai L,Huo YR,Gao S,Ji Ydoi
10.1159/000366272subject
Has Abstractpub_date
2015-01-01 00:00:00pages
32-40issue
1-2eissn
1420-8008issn
1421-9824pii
000366272journal_volume
39pub_type
杂志文章abstract:BACKGROUND:The preclinical patterns of biological markers for Alzheimer's disease (AD) in vivo need further exploration. The aim of this study was therefore to investigate CSF biomarkers, regional cerebral blood flow (rCBF) and cognitive performance in cognitively healthy older individuals. METHOD:Within a 2-week peri...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000338185
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVES:To estimate life expectancy of psychogeriatric patients having participated in a reactivation program. To identify prognostic characteristics - on admission - for survival after discharge. DESIGN:A prospective, clinical-empirical observational study. SETTING:A Dutch psychiatric-skilled nursing home. PARTI...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 临床试验,杂志文章
doi:10.1159/000077731
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the cognitive performance of institutionalized elderly in the city of Natal, state of Rio Grande do Norte, Brazil. METHODS:A descriptive, longitudinal study of 85 aged individuals via an interview conducted following the application of a classification form and the Mini-Mental State Examination (...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000348348
更新日期:2014-01-01 00:00:00
abstract::The apolipoprotein E (APOE) gene epsilon 4 allele is known to be associated with late-onset familial and sporadic Alzheimer's disease (AD). We assessed the possible relationship between APOE genotypes and morphological or functional changes in AD brains by x-ray computed tomography (CT), magnetic resonance imaging (MR...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000017029
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:To investigate the relationship between quantitative EEG (qEEG) measurements in frontotemporal dementia (FTD), Alzheimer's disease (AD) and healthy controls and to study to what extent qEEG in FTD and AD or neuropsychological test results of FTD and AD patients or a combination of both contribute to classific...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000067973
更新日期:2003-01-01 00:00:00
abstract:AIM:To determine the applicability and psychometric properties of the Italian version of the Disability Assessment of Dementia scale (DAD-I) in a community-residing population with early-stage Alzheimer's disease (AD). METHODS:The DAD-I was administered to the primary caregivers of 159 patients (mean age +/- SD 77.1 +...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000113415
更新日期:2008-01-01 00:00:00
abstract::Primary central nervous system lymphoma (PCNSL) usually presents with clinical and neuroimaging findings consistent with single or multiple intracranial mass lesions. On cranial magnetic resonance imaging (MRI), such lesions are nearly always contrast enhancing, reflecting disruption of the blood-brain barrier at the ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000017116
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND/AIMS:The aims of this study were to validate the newly developed version of the Addenbrooke's Cognitive Examination (ACE-III) against standardised neuropsychological tests and its predecessor (ACE-R) in early dementia. METHODS:A total of 61 patients with dementia (frontotemporal dementia, FTD, n = 33, and A...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000351671
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Neuropsychiatric symptoms (NPS) in dementia have received much attention due to their high prevalence and their significant implications. NPS in mild cognitive impairment (MCI), a clinical concept proposed as an intermediate state between normal aging and dementia, is now gradually gaining in interest. We ai...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章,评审
doi:10.1159/000507078
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:To examine the influence of cognitive impairment on the functional outcomes and complication rates of patients with hip fracture during in-patient treatment. METHODS:A total of 402 patients who were surgically treated for hip fractures were consecutively enrolled at a single trauma center. The patients were ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000381334
更新日期:2015-01-01 00:00:00
abstract::The apolipoprotein E (APOE) gene has in many studies been identified as a susceptibility factor in Alzheimer's disease (AD). The APOE association is rather strong, but other not yet identified genetic factors are assumed to be involved in the pathogenesis of AD. Recently an association between an intronic polymorphism...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000017037
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND/AIMS:We evaluated the differential patterns of brain atrophy in early- and late-onset Alzheimer's disease (AD) by measuring regional z-scores of voxel-based morphometry and assessed the availability of the method for clinical use. METHODS:The first 50 patients with probable AD were compared to 83 age-matche...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000151241
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions. METHODS:We analyzed ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000454802
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIM:To investigate the influence of established genetic risk factors for Alzheimer's disease on the speed of disease progression. METHODS:Polymorphisms (in ACE, ApoE, BIN1, CLU, CR1, CST3, EXOC3L2, GWA14q32.13, IL8, LDLR, PICALM, TNK1) of 40 Alzheimer's disease patients from a longitudinal study were analyz...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000336790
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIMS:Verbal fluency patterns can assist in differential diagnosis during neuropsychological assessment and identify individuals at risk for developing Alzheimer's disease (AD). While evidence suggests that subjects with AD perform worse on category fluency than letter fluency tasks, the pattern in mild cogni...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000355558
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Memantine is a moderate affinity N-methyl-D-aspartate receptor antagonist approved for treatment of Alzheimer's disease (AD). In AD, tau is abnormally hyperphosphorylated. However, no significant changes of phosphorylated tau levels in CSF are found at follow-up in studies with AD patients. It has been shown...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000107099
更新日期:2007-01-01 00:00:00
abstract::Findings in patients with dementia of the Alzheimer type (AD patients) concerning the enactment effect, i.e. reaching a better memory performance after encoding actions by performing them in contrast to encoding them by reading, are ambiguous. In order to get more insight into memory deterioration in patients sufferin...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000089135
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:There is an association between elevated plasma total homocysteine (tHcy) and vascular disease in elderly patients suffering from organic and non-organic mental disease. The main objective of the present study was to investigate the relationship between plasma tHcy concentration and vascular disease in elder...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000100927
更新日期:2007-01-01 00:00:00
abstract::N-methyl-D-aspartate (NMDA) receptor dysfunction has been implicated in the pathogenesis of Alzheimer's disease (AD). The NMDA receptor is composed of several subunits, of which the receptor 2b subunit (NR2b) is of particular significance for AD. Abundant in the hippocampus of normal subjects, reductions in NR2b have ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000048639
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND/AIM:3-Hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins) are thought to reduce the amount of Abeta peptides by reducing cholesterol from blood and/or cerebrospinal fluid. We performed this meta-analysis to evaluate the preventive and treatment effects of statins on dementia and Alzheimer dise...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章,meta分析
doi:10.1159/000099037
更新日期:2007-01-01 00:00:00
abstract::The membrane-bound glycoprotein, amyloid precursor protein (APP), plays a central role in Alzheimer's disease (AD). The present paper investigates the neuritogenic-neurotoxic properties of this protein and relates them to possible aetiopathological mechanisms in AD. Marked differences in neuritic differentiation were ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000051234
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND/AIMS:The diagnosis of delirium is not supported by specific biomarkers. In a previous study, high neopterin levels were found in patients with a postoperative delirium. In the present study, we investigated levels of neopterin, interleukin-6 (IL-6) and insulin-like growth factor-1 (IGF-1) in acutely ill admi...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000366410
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Behavioral variant frontotemporal dementia (bvFTD) patients show prefrontal cortex dysfunction and atrophy. METHODS:We investigated whether executive function in conjunction with prefrontal cortex atrophy discriminates bvFTD and Alzheimer's disease (AD) patients efficiently at presentation. RESULTS:AD and ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000321670
更新日期:2010-01-01 00:00:00
abstract:AIMS:The study explores how speech measures may be linked to language profiles in participants with Alzheimer's disease (AD) and how these profiles could distinguish AD from changes associated with normal aging. METHODS:We analysed simple sentences spoken by older adults with and without AD. Spectrographic analysis of...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000356726
更新日期:2014-01-01 00:00:00
abstract::There is growing evidence for a role of apoptosis in Alzheimer's disease (AD). Recent findings suggest an increased susceptibility of lymphocytes to apoptosis in AD. To prove the hypothesis of systemic alterations in the apoptotic balance in AD, serum and cerebrospinal fluid levels of soluble CD95, which is known to m...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000048650
更新日期:2002-01-01 00:00:00
abstract:AIM:The aim of this study was standardization and validation of the Mini-Mental State Examination (MMSE) in the general Croatian aging population. METHODS:Three-hundred and forty-four participants underwent the MMSE test, 217 cognitively healthy subjects without neurological and psychiatric disorders and 127 patients ...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000339596
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIM:The aim of this study was to elucidate the relationship between Alzheimer's disease (AD) and the serotonin transporter gene (SLC6A4). METHODS:AD subjects (n = 43) and controls (n = 47) were recruited and evaluated. In leukocytes, we evaluated two polymorphisms in SLC6A4, the serotonin transporter length...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章,meta分析
doi:10.1159/000447324
更新日期:2016-01-01 00:00:00
abstract::The Non-Communicative Patient's Pain Assessment Instrument (NOPPAIN) is a nursing assistant-administered instrument for assessing pain behaviors in patients with dementia. This study investigated the validity of the NOPPAIN. Twenty-one nursing assistants (NAs) with no prior training in using the NOPPAIN watched six vi...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000076446
更新日期:2004-01-01 00:00:00
abstract::A correlation between a 5-nucleotide deletion polymorphism in the A2M gene and an enhanced risk of developing Alzheimer's disease (AD) was reported. We studied this polymorphism in sporadic AD patients and patients with frontotemporal dementia (FTD) by using an electrophoretical separation of PCR products on a Metapho...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000051274
更新日期:2001-09-01 00:00:00
abstract:AIMS:Mild cognitive impairment (MCI) usually represents a transitional phase between normal cognitive function and dementia, but not all people with MCI develop dementia because MCI is a clinically and etiologically heterogeneous grouping. The aim of this study was to compare progression rates to Alzheimer's disease (A...
journal_title:Dementia and geriatric cognitive disorders
pub_type: 杂志文章
doi:10.1159/000339159
更新日期:2012-01-01 00:00:00