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Familial Alzheimer's disease

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https://www.readbyqxmd.com/read/29146049/common-and-rare-tbk1-variants-in-early-onset-alzheimer-disease-in-a-european-cohort
#1
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, Tobi Van den Bossche, Lubina Dillen, Bavo Heeman, Estrella Gómez-Tortosa, Albert Lladó, Raquel Sanchez-Valle, Caroline Graff, Pau Pastor, Maria A Pastor, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Jordi Clarimon, Alexandre de Mendonça, Ellen Gelpi, Magda Tsolaki, Janine Diehl-Schmid, Benedetta Nacmias, Maria Rosário Almeida, Barbara Borroni, Radoslav Matej, Agustín Ruiz, Sebastiaan Engelborghs, Rik Vandenberghe, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven, Kristel Sleegers
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls...
October 25, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29142239/differential-overexpression-of-serpina3-in-human-prion-diseases
#2
S Vanni, F Moda, M Zattoni, E Bistaffa, E De Cecco, M Rossi, G Giaccone, F Tagliavini, S Haïk, J P Deslys, G Zanusso, J W Ironside, I Ferrer, G G Kovacs, G Legname
Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30)...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141449/decisions-and-attitudes-regarding-participation-and-proxy-in-clinical-trials-among-patients-with-impaired-cognitive-function
#3
S Stormoen, I M Tallberg, O Almkvist, M Eriksdotter, E Sundström
Background Medical decision-making capacity is impaired in Alzheimer's disease and mild cognitive impairment. Medical decision-making capacity depends on many different cognitive functions and varies due to situation and cognitive, social, and emotional status of the patient. Our aim was to analyze dementia patients' capacity to estimate risks and benefits in different clinical trials and determine how cognitive decline affects their attitude toward possible participation and proxy consent. Methods Groups: Alzheimer's disease (n = 20), mild cognitive impairment (n = 21) and healthy controls (n = 33)...
January 1, 2017: Dementia
https://www.readbyqxmd.com/read/29141208/crispr-transcriptional-activation-analysis-unmasks-an-occult-%C3%AE-secretase-processivity-defect-in-familial-alzheimer-s-disease-skin-fibroblasts
#4
Keiichi Inoue, Luis M A Oliveira, Asa Abeliovich
Mutations in presenilin (PSEN) 1 and 2, which encode components of the γ-secretase (GS) complex, cause familial Alzheimer's disease (FAD). It is hypothesized that altered GS-mediated processing of the amyloid precursor protein (APP) to the Aβ42 fragment, which is accumulated in diseased brain, may be pathogenic. Here, we describe an in vitro model system that enables the facile analysis of neuronal disease mechanisms in non-neuronal patient cells using CRISPR gene activation of endogenous disease-relevant genes...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29138281/a-conserved-cytoskeletal-signaling-cascade-mediates-neurotoxicity-of-ftdp-17-tau-mutations-in-vivo
#5
Farah H Bardai, Liqun Wang, Yamini Mutreja, Mythili Yenjerla, T Chris Gamblin, Mel B Feany
The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau. In vitro, FTDP-17 mutant versions of tau can reduce microtubule binding and increase aggregation of tau, but the mechanism by which these mutations promote disease in vivo is not clear. Here we take a combined biochemical and in vivo modeling approach to define functional properties of tau driving neurotoxicity in vivo We express wild type human tau and five FTDP-17 mutant forms of tau in Drosophila using a site-directed insertion strategy to ensure equivalent levels of expression...
November 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29135358/training-area-agencies-on-aging-case-managers-to-improve-physical-function-mood-and-behavior-in-persons-with-dementia-and-caregivers-examples-from-the-rdad-northwest-study
#6
Susan M McCurry, Rebecca G Logsdon, Kenneth C Pike, David M LaFazia, Linda Teri
The Reducing Disability in Alzheimer's Disease (RDAD) program has been shown to be an effective tool for teaching caregivers strategies to improve mood, behavior, and physical function in persons with dementia. This paper describes how RDAD has been translated and implemented for use by Area Agencies on Aging (AAA) case managers across Washington and Oregon. Modifications to the original RDAD program as part of its community translation included decreasing the number of in-person sessions while preserving all educational content; involving caregivers in exercise activities for themselves as well as acting as exercise coaches for care-receivers; and enrolling persons with cognitive impairment due to mixed etiologies...
November 14, 2017: Journal of Gerontological Social Work
https://www.readbyqxmd.com/read/29133284/the-association-of-health-literacy-and-electronic-health-literacy-with-self-efficacy-coping-and-caregiving-perceptions-among-carers-of-people-with-dementia-research-protocol-for-a-descriptive-correlational-study
#7
Areti Efthymiou, Nicos Middleton, Andreas Charalambous, Evridiki Papastavrou
BACKGROUND: In the last decade, electronic health (eHealth) literacy has attracted the attention of the scientific community, as it is associated with the self-management of patients with chronic diseases and the quality and cost of care. It is estimated that 80% of people with chronic diseases are cared for at home by a family member, friend, or relative. Informal carers are susceptible to physical and mental health problems, as well as social and financial hardships. Nevertheless, there seems to be a research gap in terms of carers' needs, skills, and available resources in the age of new technologies, with the vital role of eHealth literacy of the carers remaining unexplored...
November 13, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29133174/abca1-rs2230805-and-rs2230806-common-gene-variants-are-associated-with-alzheimer-s-disease
#8
Ágnes Fehér, Zsófia Giricz, Anna Juhász, Magdolna Pákáski, Zoltán Janka, János Kálmán
The ATP-binding cassette, sub-family A, member 1 gene (ABCA1) is a relevant positional and functional candidate gene for Alzheimer's disease (AD). A case-control association study of genetic variations covering the ABCA1 locus was performed in relation to AD risk in a Hungarian sample. Five single nucleotide polymorphisms (rs2422493: C-477T, rs2740483: G-17C, rs2230805: G474A/L158L, rs2230806: G656A/R219K and rs2066718: G2311A/V771M) were genotyped in 431 AD patients and 302 cognitively healthy, elderly controls...
November 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29130150/predictors-of-adverse-psychological-experiences-surrounding-genome-wide-profiling-for-disease-risk
#9
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29126968/jnk-signaling-pathway-regulates-sorbitol-induced-tau-proteolysis-and-apoptosis-in-sh-sy5y-cells-by-targeting-caspase-3
#10
Marta Olivera Santa-Catalina, Montaña Caballero Bermejo, Ricardo Argent, Juan C Alonso, Francisco Centeno, María J Lorenzo
Growing evidence suggests that Diabetes Mellitus increases the risk of developing Alzheimer's disease. It is well known that hyperglycemia, a key feature of Diabetes Mellitus, may induce plasma osmolarity disturbances. Both hyperglycemia and hyperosmolarity promote the altered post-translational regulation of microtubule-associated protein Tau. Interestingly, abnormal hyperphosphorylation and cleavage of Tau have been proven to lead to the genesis of filamentous structures referred to as neurofibrillary tangles, the main pathological hallmark of Alzheimer's disease...
November 7, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29126445/ykl-40-in-the-brain-and-cerebrospinal-fluid-of-neurodegenerative-dementias
#11
Franc Llorens, Katrin Thüne, Waqas Tahir, Eirini Kanata, Daniela Diaz-Lucena, Konstantinos Xanthopoulos, Eleni Kovatsi, Catharina Pleschka, Paula Garcia-Esparcia, Matthias Schmitz, Duru Ozbay, Susana Correia, Ângela Correia, Ira Milosevic, Olivier Andréoletti, Natalia Fernández-Borges, Ina M Vorberg, Markus Glatzel, Theodoros Sklaviadis, Juan Maria Torres, Susanne Krasemann, Raquel Sánchez-Valle, Isidro Ferrer, Inga Zerr
BACKGROUND: YKL-40 (also known as Chitinase 3-like 1) is a glycoprotein produced by inflammatory, cancer and stem cells. Its physiological role is not completely understood but YKL-40 is elevated in the brain and cerebrospinal fluid (CSF) in several neurological and neurodegenerative diseases associated with inflammatory processes. Yet the precise characterization of YKL-40 in dementia cases is missing. METHODS: In the present study, we comparatively analysed YKL-40 levels in the brain and CSF samples from neurodegenerative dementias of different aetiologies characterized by the presence of cortical pathology and disease-specific neuroinflammatory signatures...
November 10, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29125194/amyotrophic-lateral-sclerosis-a-case-report-and-mechanistic-review-of-the-association-with-toluene-and-other-volatile-organic-compounds
#12
Marcia H Ratner, Joe F Jabre, William M Ewing, Mohamed Abou-Donia, L Christine Oliver
Unmasking of latent neurodegenerative disease has been reported following exposure to chemicals that share one or more mechanisms of action in common with those implicated in the specific disease. For example, unmasking of latent Parkinson's disease (PD) has been associated with exposure to anti-dopaminergic agents, while the progression of pre-existing mild cognitive impairment and unmasking of latent Alzheimer's disease has been associated with exposure to general anesthetic agents which promote Aβ protein aggregation...
November 10, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/29123074/the-first-case-series-of-chinese-patients-in-hong-kong-with-familial-alzheimer-s-disease-compared-with-those-with-biomarker-confirmed-sporadic-late-onset-alzheimer-s-disease
#13
Y F Shea, L W Chu, S C Lee, A Ok Chan
INTRODUCTION: Patients with familial Alzheimer's disease are being increasingly reported in Hong Kong. The objectives of this study were to report the clinical features of these patients, and to compare them with those with biomarker-confirmed sporadic late-onset Alzheimer's disease. METHODS: All symptomatic Chinese patients with familial Alzheimer's disease who attended Queen Mary Hospital, Memory Clinic between January 1998 and December 2016 were included. Clinical features, baseline Mini-Mental State Examination score, and presenting cognitive symptoms or atypical clinical features were collected...
November 10, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/29119926/-the-role-of-cxcr3-in-neurological-diseases
#14
Ya-Qun Zhou, Dai-Qiang Liu, Shu-Ping Chen, Jia Sun, Xue-Rong Zhou, Cui Xing, Da-Wei Ye, Yu-Ke Tian
Neurological diseases have become an obvious challenge due to insufficient therapeutic intervention. Therefore, novel drugs for various neurological disorders are in desperate need. Recently, compelling evidence has demonstrated that chemokine receptor CXCR3, which is a G protein-coupled receptor in the CXC chemokine receptor family, may play a pivotal role in the development of neurological diseases. The expression level of CXCR3 in T cells was significantly elevated in several neurological diseases, suggesting a potential therapeutic role of CXCR3 antagonists...
November 9, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/29119460/personal-genomic-testing-genetic-inheritance-and-uncertainty
#15
Paul H Mason
The case outlined below is the basis for the In That Case section of the "Ethics and Epistemology of Big Data" symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data about ancestry and worrying but ambiguous data about the potential risk of developing Alzheimer's disease. What began as a personal curiosity about genetic inheritance turns into an alarming situation of medical uncertainty. Questions about Jordan's family tree are overshadowed by even more questions about Alzheimer's disease and healthy ageing...
November 8, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29112196/understanding-the-roles-of-mutations-in-the-amyloid-precursor-protein-in-alzheimer-disease
#16
REVIEW
S Hunter, C Brayne
Many models of disease progression in Alzheimer's disease (AD) have been proposed to help guide experimental design and aid the interpretation of results. Models focussing on the genetic evidence include the amyloid cascade (ACH) and presenilin (PSH) hypotheses and the amyloid precursor protein (APP) matrix approach (AMA), of which the ACH has held a dominant position for over two decades. However, the ACH has never been fully accepted and has not yet delivered on its therapeutic promise. We review the ACH, PSH and AMA in relation to levels of APP proteolytic fragments reported from AD-associated mutations in APP...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29111487/cortical-%C3%AE-amyloid-burden-gray-matter-and-memory-in-adults-at-varying-apoe-%C3%AE%C2%B54-risk-for-alzheimer-s-disease
#17
Adam P Mecca, Nicole M Barcelos, Shuo Wang, Anna Brück, Nabeel Nabulsi, Beata Planeta-Wilson, Jennifer Nadelmann, Amanda L Benincasa, Jim Ropchan, Yiyun Huang, Joel Gelernter, Peter H Van Ness, Richard E Carson, Christopher H van Dyck
Models of preclinical Alzheimer's disease (AD) propose that cerebral amyloidosis leads to neurodegeneration and subsequent cognitive decline. This study investigated whether APOE genotype is related to β-amyloid (Aβ) burden in brain regions preferentially affected by AD and whether Aβ burden is associated with gray-matter (GM) fraction (as a marker of neurodegeneration) and episodic memory performance in cognitively normal middle-aged individuals at varying genetic risk for AD. Three groups of cognitively normal participants aged 50-65 years with a first-degree family history of AD (APOE genotype ε4ε4 [n = 15], ε3ε4 [n = 15], and ε3ε3 [n = 15]) underwent [(11)C]PiB positron emission tomography scans to quantify cortical Aβ, brain magnetic resonance imaging, and neuropsychological testing...
October 6, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29111006/a-complex-association-between-abca7-genotypes-and-blood-lipid-levels-in-southern-chinese-han-patients-of-sporadic-alzheimer-s-disease
#18
Hui Li, Jinxia Zhou, Zongwei Yue, Li Feng, Zhaohui Luo, Si Chen, Xiaosu Yang, Bo Xiao
Alzheimer's disease (AD) is the most common neurodegenerative disease characterized by progressive cognitive decline. It can be divided into familial AD (FAD) and sporadic AD (SAD) based on the family history. Recently dysregulation of cholesterol homeostasis has been implicated in the development of late-onset AD. ATP-binding cassette transporter A7 (ABCA7) gene, regulating the transport of cholesterol, has been recently identified as a susceptible gene of AD by several large genome-wide association studies...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29109429/knockdown-of-amyloid-precursor-protein-increases-calcium-levels-in-the-endoplasmic-reticulum
#19
Kinga Gazda, Jacek Kuznicki, Tomasz Wegierski
Familial Alzheimer's disease (AD) is caused by mutations in the genes that encode amyloid precursor protein (APP) and presenilins. Disturbances in calcium homeostasis have been observed in various cellular and animal models of AD and are proposed to underlie the pathogenesis of the disease. Furthermore, wildtype presenilins were shown to regulate endoplasmic reticulum (ER) calcium homeostasis, although their precise mechanism of action remains controversial. To investigate whether APP also affects ER calcium levels, we used RNA interference to target the APP gene in cultured T84 cells in combination with two types of ER calcium sensors...
November 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29108522/telling-life-stories-a-dyadic-intervention-for-older-korean-couples-affected-by-mild-alzheimer-s-disease
#20
Minyoung Kwak, Ji Won Han, Jung-Hwa Ha
BACKGROUND: Dementia has negative consequences for both persons with dementia and their family caregivers. Dyadic interventions in which both groups participate together have shown an effective and promising approach. The Couples Life Story Approach (CLSA) that was recently developed for older couples dealing with dementia in the USA was adapted and implemented for the older Korean population in this study. The purpose of this paper is to understand how older Korean couples dealing with dementia experienced the CLSA...
November 7, 2017: International Psychogeriatrics
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