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Alzheimer Disease in Down Syndrome

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Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.

Maria Yamasaki, Takashi Makino, Seik-Soon Khor, Hiromi Toyoda, Taku Miyagawa, Xiaoxi Liu, Hitoshi Kuwabara, Yukiko Kano, Takafumi Shimada, Toshiro Sugiyama, Hisami Nishida, Nagisa Sugaya, Mamoru Tochigi, Takeshi Otowa, Yuji Okazaki, Hisanobu Kaiya, Yoshiya Kawamura, Akinori Miyashita, Ryozo Kuwano, Kiyoto Kasai, Hisashi Tanii, Tsukasa Sasaki, Makoto Honda, Katsushi Tokunaga,

BACKGROUND:Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experiments if a CNV is rare or a singleton. In this study, we attempted to overcome this issue ... Read more >>

BMC Med Genomics (BMC medical genomics)
[2020, 13(1):55]

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Down syndrome.

Stylianos E Antonarakis, Brian G Skotko, Michael S Rafii, Andre Strydom, Sarah E Pape, Diana W Bianchi, Stephanie L Sherman, Roger H Reeves,

Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, ... Read more >>

Nat Rev Dis Primers (Nature reviews. Disease primers)
[2020, 6(1):9]

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Downregulation of serum miR-106b: a potential biomarker for Alzheimer disease.

Soheil Madadi, Massoud Saidijam, Bahram Yavari, Meysam Soleimani,

Analysis of miRNAs has a strong potential for the identification of novel prognostic or predictive biomarkers in the serum of AD patients. In this study, we investigated the serum levels of miR-106b as a diagnostic biomarker for AD and evaluate its predictive value for therapeutic response to the drug rivastigmine. ... Read more >>

Arch. Physiol. Biochem. (Archives of physiology and biochemistry)
[2020, :1-5]

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Brain insulin resistance triggers early onset Alzheimer disease in Down syndrome.

Antonella Tramutola, Chiara Lanzillotta, Fabio Di Domenico, Elizabeth Head, D Allan Butterfield, Marzia Perluigi, Eugenio Barone,

Dysregulation of insulin signaling pathway with reduced downstream neuronal survival and plasticity mechanisms is a fundamental abnormality observed in Alzheimer's disease (AD) brain. This phenomenon, known as brain insulin resistance, is associated with poor cognitive performance and is driven by the uncoupling of insulin receptor (IR) from its direct substrate ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2020, 137:104772]

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Forward genetic screening of a novel gene hmgs-1 Involved in Alzheimer Disease Pathogenesis in a transgenic Caenorhabditis elegans model.

Yuhong Li, Hua Bai, Hui Huang, Man Zhu, Donghua Zhang, Xiaowei Huang,

Alzheimer disease (AD), which poses a serious challenge in aging societies, still lacks effective treatments to reverse its progression, and thus, has been a major focus of research for decades. There are several risk factors associated with the etiology of AD. To further identify potential new factors involved in AD ... Read more >>

Biochem. Biophys. Res. Commun. (Biochemical and biophysical research communications)
[2020, :]

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The Burden of Noncommunicable Diseases in Ethiopia, 2000-2016: Analysis of Evidence from Global Burden of Disease Study 2016 and Global Health Estimates 2016.

Tadele Girum, Dereje Mesfin, Jemal Bedewi, Misgun Shewangizaw,

Background:The continuing rise in the burden of noncommunicable diseases (NCDs) is a key global health agendum due to the fact that NCDs cause more deaths than all other causes combined together. Although measuring the burden of NCD is very important to improve the existing health care systems and to monitor ... Read more >>

Int J Chronic Dis (International journal of chronic diseases)
[2020, 2020:3679528]

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Exploratory Analysis of iPSCS-Derived Neuronal Cells as Predictors of Diagnosis and Treatment of Alzheimer Disease.

Eugenio Cavalli, Giuseppe Battaglia, Maria Sofia Basile, Valeria Bruno, Maria Cristina Petralia, Salvo Danilo Lombardo, Manuela Pennisi, Reni Kalfin, Lyubka Tancheva, Paolo Fagone, Ferdinando Nicoletti, Katia Mangano,

Alzheimer's disease (AD) represents the most common neurodegenerative disorder, with 47 million affected people worldwide. Current treatment strategies are aimed at reducing the symptoms and do slow down the progression of the disease, but inevitably fail in the long-term. Induced pluripotent stem cells (iPSCs)-derived neuronal cells from AD patients have ... Read more >>

Brain Sci (Brain sciences)
[2020, 10(3):]

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Peroxisomal Dysfunction in Neurological Diseases and Brain Aging.

Ndidi-Ese Uzor, Louise D McCullough, Andrey S Tsvetkov,

Peroxisomes exist in most cells, where they participate in lipid metabolism, as well as scavenging the reactive oxygen species (ROS) that are produced as by-products of their metabolic functions. In certain tissues such as the liver and kidneys, peroxisomes have more specific roles, such as bile acid synthesis in the ... Read more >>

Front Cell Neurosci (Frontiers in Cellular Neuroscience)
[2020, 14:44]

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The Neuroprotective Effects of Exercise on Cognitive Decline: A Preventive Approach to Alzheimer Disease.

Muhammad Humayoun Rashid, Muhammad Farhan Zahid, Sarmad Zain, Ahmad Kabir, Sibt Ul Hassan,

Alzheimer's disease (AD) is a progressive disorder that causes brain cells to slowly degenerate and die. This leads to a continuous decline in thinking, behavioral and social skills that disrupts a person's ability to function independently. AD is the most common cause of dementia globally. Neuroinflammation caused by intracellular neurofibrillary ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6958]

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Adaptation of the Clinical Dementia Rating Scale for adults with Down syndrome.

Christina N Lessov-Schlaggar, Olga L Del Rosario, John C Morris, Beau M Ances, Bradley L Schlaggar, John N Constantino,

BACKGROUND:Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, acute neuropsychiatric symptomatology, and dementia in this population of patients. METHODS:We adapted a widely used instrument, the Clinical Dementia Rating ... Read more >>

J Neurodev Disord (Journal of neurodevelopmental disorders)
[2019, 11(1):39]

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Downregulation of miR-33 Has Protective Effect Against Aβ₂₅₋₃₅-Induced Injury in SH-SH-SY5Y Cells.

Xiaoping Wang, Xiaojia Li, Bin Huang, Lili Yang, Kai Chen, Dongdong Zhao, Xiangdong Luo, Yingji Wang,

BACKGROUND Alzheimer disease (AD) is a significant health issue for the elderly, and there are at present no clinically effective anti-AD agents. Prevention of Aß-induced neurotoxicity is proposed as a possible modality for treatment of AD. miR-33 has been proven to promote Aß secretion and impair Aß clearance in neural ... Read more >>

Med. Sci. Monit. (Medical science monitor : international medical journal of experimental and clinical research)
[2020, 26:e921026]

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Detection of Alzheimer Disease Pathology in Patients Using Biochemical Biomarkers: Prospects and Challenges for Use in Clinical Practice.

Leslie M Shaw, Magdalena Korecka, Michal Figurski, Jon Toledo, David Irwin, Ju Hee Kang, John Q Trojanowski,

BACKGROUND:Thirty-four years ago, amyloid-β 1-42 peptide was identified in amyloid plaques from brain tissue obtained from patients with Alzheimer disease (AD) and Down syndrome. This finding led to development of immunoassays for this marker of amyloid plaque burden in cerebrospinal fluid (CSF) approximately 10 years later. Subsequently, research immunoassays were ... Read more >>

J Appl Lab Med (The journal of applied laboratory medicine)
[2019, :]

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Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel,

ABSTRACT Intellectual disability (ID) found in Down syndrome (DS), which is characterized by an extra copy of 234 genes on Chr21 is poorly understood. We first used two DS mouse models that either display an extra copy of the Dyrk1A gene or of the mouse Chr16 syntenic region. Exome sequencing ... Read more >>

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Therapeutic importance of hydrogen sulfide in age-associated neurodegenerative diseases.

Rubaiya Tabassum, Na Young Jeong, Junyang Jung,

Hydrogen sulfide (H2S) is a gasotransmitter that acts as an antioxidant and exhibits a wide variety of cytoprotective and physiological functions in age-associated diseases. One of the major causes of age-related diseases is oxidative stress. In recent years, the importance of H2S has become clear, although its antioxidant function has ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(4):653-662]

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Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.

Stephanie L Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J Hart, Victoria Hobensack, Priya S Kishnani, Eric A Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko,

PURPOSE:An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS:Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(4):767-776]

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Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report.

Elijah Mak, Anastasia Bickerton, Concepcion Padilla, Madeleine J Walpert, Tiina Annus, Liam R Wilson, Young T Hong, Tim D Fryer, Jonathan P Coles, Franklin I Aigbirhio, Bradley T Christian, Benjamin L Handen, William E Klunk, David K Menon, Peter J Nestor, Shahid H Zaman, Anthony J Holland,

Introduction:Comorbid Alzheimer disease pathologies are frequently found in people with Down syndrome (DS). We report a deep phenotyping study undertaken over 7 years in a participant with DS who was nondemented at baseline but developed dementia after 5 years. Methods:Throughout the course of the study, the participant was seen 4 ... Read more >>

Alzheimers Dement (Amst) (Alzheimer's & dementia (Amsterdam, Netherlands))
[2019, 11:654-658]

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COMPARISON OF AGE AND BIOLOGICAL SEX MORTALITY TRENDS BETWEEN ADULTS WITH AND WITHOUT DOWN SYNDROME.

Scott D Landes, Scott D Landes, James D Stevens, Margaret D Turk,

AbstractAge at death and cause of death comparisons between adults with and without Down syndrome reveal distinct mortality trends that can be utilized to inform preventive care efforts to reduce premature mortality in this population. We compare mean and median age at death, and standardized mortality odds ratios (SMORs) for ... Read more >>

Innov Aging (Innovation in Aging)
[2019, 3(Suppl 1):S352-S352]

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Tauopathy-Associated Tau Fragment Ending at Amino Acid 224 Is Generated by Calpain-2 Cleavage.

Claudia Cicognola, Tugce Munise Satir, Gunnar Brinkmalm, Irena Matečko-Burmann, Lotta Agholme, Petra Bergström, Bruno Becker, Henrik Zetterberg, Kaj Blennow, Kina Höglund,

BACKGROUND:Tau aggregation in neurons and glial cells characterizes tauopathies as Alzheimer's disease (AD), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). Tau proteolysis has been proposed as a trigger for tau aggregation and tau fragments have been observed in brain and cerebrospinal fluid (CSF). Our group identified a major tau ... Read more >>

J. Alzheimers Dis. (Journal of Alzheimer's disease : JAD)
[2020, :]

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Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years.

In Young Sung, Jae Yong Jeon, Ki Jeong Yun, Jin Sook Yuk, Eun Me Byun, Han-Wook Yoo, Tae-Sung Ko, Hyo-Won Kim, Dae-Hyun Jang,

This study was to develop tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years. Twelve cognitive training programs (named Injini) were designed comprising cognitive domains that included attention, visual and auditory perception, memory, executive function, language, and reasoning. In addition, ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(2):e18674]

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Investigating the energy crisis in Alzheimer disease using transcriptome study.

S Akila Parvathy Dharshini, Y-H Taguchi, M Michael Gromiha,

Alzheimer disease (AD) is a devastating neurological disorder, which initiates from hippocampus and proliferates to cortical regions. The neurons of hippocampus require higher energy to preserve the firing pattern. In AD, aberrant energy metabolism is the critical factor for neurodegeneration. However, the reason for the energy crisis in hippocampus neurons ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):18509]

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Construction for Long Non-Coding RNA (lncRNA)-Associated Competing Endogenous RNA (ceRNA) Network in Human Retinal Detachment (RD) with Proliferative Vitreoretinopathy (PVR).

Ke Yao, Yixian Yu, Hong Zhang,

BACKGROUND The aim of this study was to analyze the long non-coding RNA (lncRNA)-associated competing endogenous RNA (ceRNA) network in human retinal tissues following detachment with proliferative vitreoretinopathy (PVR). MATERIAL AND METHODS Expression data of 19 human detached retinas with PVR and 19 normal retinas from postmortem donors were downloaded ... Read more >>

Med. Sci. Monit. (Medical science monitor : international medical journal of experimental and clinical research)
[2020, 26:e919871]

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Are Anticholinergic Medications Associated With Increased Risk of Dementia and Behavioral and Psychological Symptoms of Dementia? A Nationwide 15-Year Follow-Up Cohort Study in Taiwan.

Yia-Ping Liu, Wu-Chien Chien, Chi-Hsiang Chung, Hsin-An Chang, Yu-Chen Kao, Nian-Sheng Tzeng,

Background/Objective:In previous reports, the usage of anticholinergic medications has been associated with an increased risk of dementia with prolonged usage or with a high Anticholinergic Cognitive Burden (ACB). This study aimed to investigate the association between anticholinergic medications and the risk of dementia using data from Taiwan's National Health Research ... Read more >>

Front Pharmacol (Frontiers in pharmacology)
[2020, 11:30]

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Transcriptional activation of USP16 gene expression by NFκB signaling.

Shou Yang, Juelu Wang, Shipeng Guo, Daochao Huang, Isabel Bestard Lorigados, Xing Nie, Dandan Lou, Yanhua Li, Mingjing Liu, Yu Kang, Weihui Zhou, Weihong Song,

Ubiquitin Specific Peptidase 16 (USP16) has been reported to contribute to somatic stem-cell defects in Down syndrome. However, how this gene being regulated is largely unknown. To study the mechanism underlying USP16 gene expression, USP16 gene promoter was cloned and analyzed by luciferase assay. We identified that the 5' flanking ... Read more >>

Mol Brain (Molecular brain)
[2019, 12(1):120]

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Epidemiology of Dementia and Alzheimer Disease in Individuals With Down Syndrome.

Eric Rubenstein, Sigan Hartley, Lauren Bishop,

JAMA Neurol (JAMA neurology)
[2019, :]

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Methyl-CpG Binding Protein 2 in Alzheimer Dementia.

Baeksun Kim, Yunjung Choi, Hye-Sun Kim, Heh-In Im,

Despite decades of research on Alzheimer disease, understanding the complexity of the genetic and molecular interactions involved in its pathogenesis remains far from our grasp. Methyl-CpG Binding Protein 2 (MeCP2) is an important epigenetic regulator enriched in the brain, and recent findings have implicated MeCP2 as a crucial player in ... Read more >>

Int Neurourol J (International neurourology journal)
[2019, 23(Suppl 2):S72-81]

Cited: 2 times

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