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Familial Alzheimer's disease

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https://www.readbyqxmd.com/read/28240664/creutzfeldt-jakob-disease-mimicking-alzheimer-disease-and-dementia-with-lewy-bodies-findings-of-fdg-pet-with-3-dimensional-stereotactic-surface-projection
#1
Nobuhiko Miyazawa
A 78-year-old man received a diagnosis of sporadic Creutzfeldt-Jakob disease based on symptoms and findings of MRI, FDG PET, and cerebrospinal fluid markers. PET with 3-dimensional stereotactic surface projection (3D-SSP) showed that the distribution of hypometabolism mimicked that of Alzheimer disease. A 68-year-old woman was treated under a diagnosis of convulsion. Findings of MRI, PET, familial history, and cerebrospinal fluid markers revealed familial Creutzfeldt-Jakob disease. FDG PET with 3D-SSP disclosed that the hypometabolic pattern mimicked that of dementia with Lewy bodies...
February 24, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28235777/observing-conversational-laughter-in-frontotemporal-dementia
#2
Peter S Pressman, Michaela Simpson, Kelly Gola, Suzanne M Shdo, Edoardo G Spinelli, Bruce L Miller, Maria Luisa Gorno-Tempini, Katherine Rankin, Robert W Levenson
BACKGROUND: We performed an observational study of laughter during seminaturalistic conversations between patients with dementia and familial caregivers. Patients were diagnosed with (1) behavioural variant frontotemporal dementia (bvFTD), (2) right temporal variant frontotemporal dementia (rtFTD), (3) semantic variant of primary progressive aphasia (svPPA), (4) non-fluent variant primary progressive aphasia (nfvPPA) or (5) early onset Alzheimer's disease (eoAD). We hypothesised that those with bvFTD would laugh less in response to their own speech than other dementia groups or controls, while those with rtFTD would laugh less regardless of who was speaking...
February 24, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28235468/lipid-mapping-of-the-rat-brain-for-models-of-disease
#3
J Martínez-Gardeazabal, E González de San Román, M Moreno, A Llorente-Ovejero, I Manuel, R Rodriguez-Puertas
Lipids not only constitute the primary component of cellular membranes and contribute to metabolism but also serve as intracellular signaling molecules and bind to specific membrane receptors to control cell proliferation, growth and convey neuroprotection. Over the last several decades, the development of new analytical techniques, such as imaging mass spectrometry (IMS), has contributed to our understanding of their involvement in physiological and pathological conditions. IMS allows researchers to obtain a wide range of information about the spatial distribution and abundance of the different lipid molecules that is crucial to understand brain functions...
February 21, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28230986/design-synthesis-and-evaluation-of-a-novel-series-of-oxadiazine-gamma-secretase-modulators-for-familial-alzheimer-s-disease
#4
Matthew G Bursavich, Bryce A Harrison, Raksha Acharya, Donald E Costa, Emily A Freeman, Hilliary E Hodgdon, Lori A Hrdlicka, Hong Jin, Sudarshan Kapadnis, Jeffrey S Moffit, Deirdre A Murphy, Scott Nolan, Holger Patzke, Cuyue Tang, Melody Wen, Gerhard Koenig, Jean-François Blain, Duane A Burnett
Herein we describe the design, synthesis and evaluation of a novel series of oxadiazine-based gamma secretase modulators obtained via isosteric amide replacement and critical consideration of conforma-tional restriction. Oxadiazine lead 47 possesses good in vitro potency with excellent predicted CNS drug-like properties and desirable ADME/PK profile. This lead compound demonstrated robust Aβ42 reductions and subsequent Aβ37 increases in both rodent brain and CSF at 30 mg/kg dosed orally.
February 23, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28225543/cuba-s-aging-and-alzheimer-longitudinal-study
#5
Juan de Jesús Llibre-Rodríguez, Adolfo Valhuerdi-Cepero, Ana M López-Medina, Lisseth Noriega-Fernández, Rutbeskia Porto-Álvarez, Milagros A Guerra-Hernández, Rodolfo I Bosch-Bayard, Tania Zayas-Llerena, Elaine Hernandez-Ulloa, Ana L Rodríguez-Blanco, Enrique Salazar-Pérez, Juan C Llibre-Guerra, Jorge J Llibre-Guerra, Beatriz Marcheco-Teruel
Aging and Alzheimer is a prospective, longitudinal cohort study involving 2944 adults aged ≥65 years from selected areas in Cuba's Havana and Matanzas Provinces. This door-to-door study, which began in 2003, includes periodic assessments of the cohort based on an interview; physical exam; anthropometric measurements; and diagnosis of dementia and its subtypes, other mental disorders, and other chronic non-communicable diseases and their risk factors. Information was gathered on sociodemographic characteristics; disability, dependency and frailty; use of health services; and characteristics of care and caregiver burden...
January 2017: MEDICC Review
https://www.readbyqxmd.com/read/28224963/-psychiatry-in-the-evolution-of-alzheimer-s-disease
#6
REVIEW
Cyril Hazif-Thomas, Philippe Thomas
Caring for a patient suffering from Alzheimer's disease is a real challenge which few doctors fully appreciate. The manners of an agitated patient can sometimes destroy emotional bonds and require collaboration both with the family helpers and all relevant health professionals.
January 2017: Soins. Gérontologie
https://www.readbyqxmd.com/read/28224163/getting-what-they-need-when-they-need-it-identifying-barriers-to-information-needs-of-family-caregivers-to-manage-dementia-related-behavioral-symptoms
#7
Nicole E Werner, Barbara Stanislawski, Katherine A Marx, Daphne C Watkins, Marissa Kobayashi, Helen Kales, Laura N Gitlin
BACKGROUND: Consumer health informatics (CHI) such as web-based applications may provide the platform for enabling the over 15 million family caregivers of patients with Alzheimer's Disease or related dementias the information they need when they need it to support behavioral symptom management. However, for CHI to be successful, it is necessary that it be designed to meet the specific information needs of family caregivers in the context in which caregiving occurs. A sociotechnical systems approach to CHI design can help to understand the contextual complexities of family caregiving and account for those complexities in the design of CHI for family caregivers...
February 22, 2017: Applied Clinical Informatics
https://www.readbyqxmd.com/read/28222527/gene-expression-and-methylation-analysis-of-abca7-in-patients-with-alzheimer-s-disease
#8
Kiyohiro Yamazaki, Yuta Yoshino, Takaaki Mori, Taku Yoshida, Yuki Ozaki, Tomoko Sao, Yoko Mori, Shinichiro Ochi, Jun-Ichi Iga, Shu-Ichi Ueno
BACKGROUND/OBJECTIVE: The aim of this study was to examine the blood gene expression and methylation of ATP-binding cassette sub-family A member 7 gene (ABCA7) as a biological marker of AD. METHODS: AD subjects (n = 50; 11 males, 77.7±6.05 years old) and age- and sex-matched healthy controls (n = 50) were recruited. A single nucleotide polymorphism in ABCA7 (rs3764650), methylation rates of CpG sites in the ABCA7 promoter region, and ABCA7 mRNA expression levels in peripheral blood were examined...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222519/genetic-stratification-to-identify-risk-groups-for-alzheimer-s-disease
#9
Riccardo E Marioni, Archie Campbell, Saskia P Hagenaars, Reka Nagy, Carmen Amador, Caroline Hayward, David J Porteous, Peter M Visscher, Ian J Deary
Stratification by genetic risk factors for Alzheimer's disease (AD) may help identify groups with the greatest disease risk. Biological changes that cause late-onset AD are likely to occur years, if not decades prior to diagnosis. Here, we select a subset of the Generation Scotland: Scottish Family Health Study cohort in a likely preclinical age-range of 60-70 years (subset n = 3,495 with cognitive and genetic data). We test for cognitive differences by polygenic risk scores for AD. The polygenic scores are constructed using all available SNPs, excluding those within a 500 kb distance of the APOE locus...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222009/alzheimer-s-and-danish-dementia-peptides-induce-cataract-and-perturb-retinal-architecture-in-rats
#10
G Bhanuprakash Reddy, P Yadagiri Reddy, Avadhesha Surolia
Familial Danish dementias (FDDs) are autosomal dominant neurodegenerative disorders that are associated with visual defects. In some aspects, FDD is similar to Alzheimer's disease (AD)- the amyloid deposits in FDD and AD are made of short peptides: amyloid β (Aβ) in AD and ADan in FDD. Previously, we demonstrated an interaction between the dementia peptides and α-crystallin leading to lens opacification in organ culture due to impaired chaperone activity of α-crystallin. Herein, we report the in vivo effects of ADan and Aβ on the eye...
February 21, 2017: Biomolecular Concepts
https://www.readbyqxmd.com/read/28220836/nucleobindin-1-binds-to-multiple-types-of-pre-fibrillar-amyloid-and-inhibits-fibrillization
#11
Alessandra Bonito-Oliva, Shahar Barbash, Thomas P Sakmar, W Vallen Graham
During amyloid fibril formation, amyloidogenic polypeptides misfold and self assemble into soluble pre-fibrillar aggregates, i.e., protofibrils, which elongate and mature into insoluble fibrillar aggregates. An emerging class of chaperones, chaperone-like amyloid binding proteins (CLABPs), has been shown to interfere with aggregation of particular misfolded amyloid peptides or proteins. We have discovered that the calcium-binding protein nuclebindin-1 (NUCB1) is a novel CLABP. We show that NUCB1 inhibits aggregation of islet-amyloid polypeptide associated with type 2 diabetes mellitus, a-synuclein associated with Parkinson's disease, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Aβ42 associated with Alzheimer's disease by stabilizing their respective protofibril intermediates...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216895/vincamine-alleviates-amyloid-%C3%AE-25-35-peptides-induced-cytotoxicity-in-pc12-cells
#12
Jianfeng Han, Qiumin Qu, Jin Qiao, Jie Zhang
OBJECTIVE: Vincamine is a plant alkaloid used clinically as a peripheral vasodilator that increases cerebral blood flow and oxygen and glucose utilization by neural tissue to combat the effect of aging. The main purpose of the present study is to investigate the influence of vincamine on amyloid-β 25-35 (Aβ25-35) induced cytotoxicity, to gain a better understanding of the neuroprotective effects of this clinically used anti-Alzheimer's disease drug. MATERIALS AND METHODS: Oxidative stress was assessed by measuring malondialdehyde, glutathione, and superoxide dismutase (SOD) levels...
January 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28215162/gut-brain-axis-role-of-lipids-in-the-regulation-of-inflammation-pain-and-cns-diseases
#13
Roberto Russo, Claudia Cristiano, Carmen Avagliano, Carmen De Caro, Giovanna La Rana, Giuseppina Mattace Raso, Roberto Berni Canani, Rosaria Meli, Antonio Calignano
The human gut is a composite anaerobic environment with a large, diverse and dynamic enteric microbiota, represented by more than 100 trillion microorganisms, including at least 1000 distinct species. The discovery that a different microbial composition can influence behavior and cognition, and in turn the nervous system can indirectly influence enteric microbiota composition, has significantly contributed to establish the well-accepted concept of gut-brain axis. This hypothesis is supported by several evidence showing mutual mechanisms, which involve the vague nerve, the immune system, the hypothalamic-pituitary-adrenal (HPA) axis modulation and the bacteria-derived metabolites...
February 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28214529/role-of-human-gkn1-on-app-processing-in-gastric-cancer
#14
Chiara Stella Di Stadio, Filomena Altieri, Giuseppina Minopoli, Giuseppina Miselli, Emilia Rippa, Paolo Arcari
Gastrokine 1 (GKN1) is highly expressed in gastric tissue and is secreted into the stomach but is not expressed in gastric cancer. GKN1 belongs to the BRICHOS domain family and plays a major role in maintaining gastric mucosa integrity. We previously demonstrated that a recombinant human GKN1 protein was able to interact with the amyloid precursor protein (APP) and was endowed with an anti-amyloidogenic property because it inhibited polymerization of the Aβ(1-40) peptide released from APP upon its partial hydrolysis...
February 15, 2017: Biochimie
https://www.readbyqxmd.com/read/28213371/polygenic-risk-scores-in-familial-alzheimer-disease
#15
Giuseppe Tosto, Thomas D Bird, Debby Tsuang, David A Bennett, Bradley F Boeve, Carlos Cruchaga, Kelley Faber, Tatiana M Foroud, Martin Farlow, Alison M Goate, Sarah Bertlesen, Neill R Graff-Radford, Martin Medrano, Rafael Lantigua, Jennifer Manly, Ruth Ottman, Roger Rosenberg, Daniel J Schaid, Nicole Schupf, Yaakov Stern, Robert A Sweet, Richard Mayeux
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease. METHODS: Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging-Late-Onset Alzheimer's Disease Family Study), mixed regression models tested the association of familial LOAD with a GRS based on single nucleotide polymorphisms (SNPs) previously associated with LOAD...
February 17, 2017: Neurology
https://www.readbyqxmd.com/read/28213071/pla2g6-accumulates-in-lewy-bodies-in-park14-and-idiopathic-parkinson-s-disease
#16
Yasuo Miki, Kunikazu Tanji, Fumiaki Mori, Akiyoshi Kakita, Hitoshi Takahashi, Koichi Wakabayashi
The histopathological hallmark of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) is the occurrence of insoluble fibrillary aggregates known as Lewy bodies, in which phosphorylated α-synuclein (α-syn) is a major component. To date, familial PD-linked gene products, including α-syn, parkin, PINK-1, DJ-1 and LRRK2, are known to be involved in Lewy body formation. Phospholipase A2, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism...
February 14, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28209190/the-effects-of-different-familial-alzheimer-s-disease-mutations-on-app-processing-in-vivo
#17
Steinunn Thordardottir, Anne Kinhult Ståhlbom, Ove Almkvist, Håkan Thonberg, Maria Eriksdotter, Henrik Zetterberg, Kaj Blennow, Caroline Graff
BACKGROUND: Disturbed amyloid precursor protein (APP) processing is considered to be central to the pathogenesis of Alzheimer's disease (AD). The autosomal dominant form of the disease, familial AD (FAD), may serve as a model for the sporadic form of AD. In FAD the diagnosis of AD is reliable and presymptomatic individuals carrying FAD mutations can give valuable insights into the earliest stages of the disease where therapeutic interventions are thought to be the most effective. METHODS: In the current cross-sectional study, products of APP processing (e...
February 16, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28208151/bacillus-calmette-gu%C3%A3-rin-confers-neuroprotection-in-a-murine-model-of-japanese-encephalitis
#18
Sahil Kulkarni, Sandeepan Mukherjee, Anupama Pandey, Ritwik Dahake, Usha Padmanabhan, Abhay S Chowdhary
OBJECTIVE: Japanese encephalitis (JE) is a debilitating disease caused by infection with the JE virus (JEV; family: Flaviviridae), which leaves neurological sequelae in survivors but more often leads to mortality. Neurodegeneration caused by inflammation is the primary pathology behind the clinical manifestation of encephalitis caused by JEV. Bacillus Calmette-Guérin (BCG) has been used in immunoprophylaxis for tuberculosis and in the adjuvant therapy of many malignancies, and has exhibited neuroprotective activities in experimental models of Parkinson and Alzheimer disease...
February 17, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28201932/turkish-adult-children-as-caregivers-of-parents-with-alzheimer-s-disease-perceptions-and-caregiving-experiences
#19
Yagmur Ar, A Nuray Karanci
There is substantial evidence suggesting that Western and non-Western caregivers of patients with Alzheimer's disease have different caregiving experiences depending on the cultural values they adopt. Although family-centered constructs such as familism and filial piety have taken some attention, there is still a paucity of research on how cultural values and norms shape caregiving appraisals, coping strategies, and formal service use specifically in Eastern-oriented contexts. The aim of this study was to investigate Turkish adult children caregivers' perceptions of Alzheimer's disease and caregiving experience...
January 1, 2017: Dementia
https://www.readbyqxmd.com/read/28197070/role-of-app-interactions-with-heterotrimeric-g-proteins-physiological-functions-and-pathological-consequences
#20
REVIEW
Philip F Copenhaver, Donat Kögel
Following the discovery that the amyloid precursor protein (APP) is the source of β-amyloid peptides (Aβ) that accumulate in Alzheimer's disease (AD), structural analyses suggested that the holoprotein resembles a transmembrane receptor. Initial studies using reconstituted membranes demonstrated that APP can directly interact with the heterotrimeric G protein Gαo (but not other G proteins) via an evolutionarily G protein-binding motif in its cytoplasmic domain. Subsequent investigations in cell culture showed that antibodies against the extracellular domain of APP could stimulate Gαo activity, presumably mimicking endogenous APP ligands...
2017: Frontiers in Molecular Neuroscience
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