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Familial Alzheimer's disease

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https://www.readbyqxmd.com/read/28817283/the-effects-of-a21g-mutation-on-transmembrane-amyloid-beta-11-40-trimer-an-in-silico-study
#1
Son Tung Ngo, Minh Tung Nguyen, Nguyen Thanh Nguyen, Van V Vu
Familial Alzheimer's disease (FAD) is passed down in family, which account for 2-3% of about 40 million AD cases worldwide. The Flemish (A21G) mutant of amyloid β (Aβ) exhibits unique properties among all hereditary mutants of FAD, including lowest aggregation rate. Recent studies showed that Aβ oligomers play key role in Alzheimer's disease (AD) pathogenesis. They could insert themselves in brain cell membrane, disrupting the membrane integrity and ion homeostasis. However, experimental studies of transmembrane Aβ oligomers have been limited due to their intrinsic heterogeneity...
August 17, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28814675/retinal-amyloid-pathology-and-proof-of-concept-imaging-trial-in-alzheimer-s-disease
#2
Yosef Koronyo, David Biggs, Ernesto Barron, David S Boyer, Joel A Pearlman, William J Au, Shawn J Kile, Austin Blanco, Dieu-Trang Fuchs, Adeel Ashfaq, Sally Frautschy, Gregory M Cole, Carol A Miller, David R Hinton, Steven R Verdooner, Keith L Black, Maya Koronyo-Hamaoui
BACKGROUND: Noninvasive detection of Alzheimer's disease (AD) with high specificity and sensitivity can greatly facilitate identification of at-risk populations for earlier, more effective intervention. AD patients exhibit a myriad of retinal pathologies, including hallmark amyloid β-protein (Aβ) deposits. METHODS: Burden, distribution, cellular layer, and structure of retinal Aβ plaques were analyzed in flat mounts and cross sections of definite AD patients and controls (n = 37)...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28814374/from-bench-laboratory-to-bed-hospital-home-how-to-explore-effective-natural-and-synthetic-pak1-blockers-longevity-promoters-for-cancer-therapy
#3
REVIEW
Hiroshi Maruta, Mok-Ryeon Ahn
PAK family kinases are RAC/CDC42-activated kinases that were first found in a soil amoeba 4 decades ago, and 2 decades later, were discovered in mammals as well. Since then at least 6 members of this family have been identified in mammals. One of them called PAK1 has been best studied so far, mainly because it is essential not only for malignant cell growth and metastasis, but also for many other diseases/disorders such as diabetes (type 2), AD (Alzheimer's disease), hypertension, and a variety of inflammatory or infectious diseases, which definitely shorten our lifespan...
August 9, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28813734/the-36-hour-day-revisited-implementing-a-caregiver-support-system-into-primary-care-practice
#4
Rachel Sunne, Mark K Huntington
An estimated 5.3 million Americans had Alzheimer's disease in 2015. With the aging population and rapid rise in those with dementia, it is vital to not only care for the dementia patient, but also his or her primary caregiver. Caregivers often suffer from depression and neglect their own health in order to care for their loved one. In this regard, included is a review of the role of the primary care physician including the importance of discussing the diagnosis of dementia with the patient and family, providing supportive services and resources, as well as the challenges that many physicians face in tackling the care of a dementia caregiver...
April 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813486/differentiating-between-subtypes-of-primary-progressive-aphasia-and-mild-cognitive-impairment-on-a-modified-version-of-the-frontal-behavioral-inventory
#5
Donna C Tippett, Carol B Thompson, Cornelia Demsky, Rajani Sebastian, Amy Wright, Argye E Hillis
Behavioral assessment has been investigated in frontotemporal lobar degeneration and Alzheimer's disease, but has not been explored extensively in subtypes of primary progressive aphasia (PPA). We explored the ability of a modified version of the Frontal Behavioral Inventory (FBI-mod) to discriminate between patients with distinct subtypes of PPA and patients with mild cognitive impairment (MCI). We hypothesized that individuals with nonfluent agrammatic PPA (nfaPPA) would have higher negative behavior scores than other groups and that individuals with semantic variant PPA (svPPA) would have higher disinhibition scores than other groups...
2017: PloS One
https://www.readbyqxmd.com/read/28813239/how-should-clinicians-counsel-a-woman-with-a-strong-family-history-of-early-onset-alzheimer-s-disease-about-her-pregnancy
#6
Marianna V Mapes, Barbara M O'Brien, Louise P King
Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy...
July 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28807389/the-opportunity-costs-of-caring-for-people-with-dementia-in-southern-spain
#7
Manuel Ruiz-Adame Reina, Manuel Correa, Katherine Burton
OBJECTIVE: The aim of this paper is to study the opportunity costs (OC) that are involved in being a caregiver and to compare them with the direct costs assumed by the State and the families. We evaluate direct cost (those that imply a payment-out-of-pocket) and indirect cost (those that imply a dedication in time). We hypothesized that costs increase with the severity of the dementia, with the educational level and active occupational situation of caregiver. They are greater if the caregiver is male, but if the patient and caregiver cohabit they are reduced...
August 11, 2017: Gaceta Sanitaria
https://www.readbyqxmd.com/read/28806917/study-protocol-pragmatic-randomized-control-trial-of-an-internet-based-intervention-my-tools-4-care-for-family-carers
#8
Wendy Duggleby, Jenny Ploeg, Carrie McAiney, Kathryn Fisher, Jenny Swindle, Tracey Chambers, Sunita Ghosh, Shelley Peacock, Maureen Markle-Reid, Jean Triscott, Allison Williams, Dorothy Forbes, Lori Pollard
BACKGROUND: Family carers of older persons with Alzheimer's' disease and related dementia (ADRD) and multiple chronic conditions (MCC) experience significant, complex, and distressing transitions such as changes to their environment, roles and relationships, physical health, and mental health. An online intervention (My Tools 4 Care) was developed for family carers of persons with ADRD and MCC living at home, with the aim of supporting these carers through transitions and increasing their self-efficacy, hope, and health related quality of life (HRQoL)...
August 14, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28806278/ce-original-research-the-experience-of-transitioning-to-a-caregiving-role-for-a-family-member-with-alzheimer-s-disease-or-related-dementia
#9
Kathleen Czekanski
Study findings suggest several areas for further research. ABSTRACT: Background: Alzheimer's disease is a chronic, debilitating disease that currently affects an estimated 5.5 million Americans. The majority are being cared for at home by family caregivers, who are known to have higher levels of burden than any other group of caregivers. PURPOSE: The purpose of this phenomenological study was to explore the lived experiences of people who transition to the role of caregiver for a family member with Alzheimer's disease or a related dementia...
August 10, 2017: American Journal of Nursing
https://www.readbyqxmd.com/read/28797885/mitophagy-in-neurodegenerative-diseases
#10
REVIEW
Carlo Rodolfo, Silvia Campello, Francesco Cecconi
Neurodegenerative diseases, such as Parkinson's disease (PD), Alzheimer's disease (AD), Huntington's disease (HD), and Amyotrophic Lateral Sclerosis (ALS), are a complex "family" of pathologies, characterised by the progressive loss of neurons and/or neuronal functions, leading to severe physical and cognitive inabilities in affected patients. These syndromes, despite differences in the causative events, the onset, and the progression of the disease, share as common features the presence of aggregate-prone neuro-toxic proteins, in the form of aggresomes and/or inclusion bodies, perturbing cellular homeostasis and neuronal function (Popovic et al...
August 8, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28796010/the-report-of-p-val717phe-mutation-in-the-app-gene-in-a-hungarian-family-with-alzheimer-disease-a-phenomenological-study
#11
Dénes Zádori, Judit Füvesi, Erzsébet Timár, Emese Horváth, Renáta Bencsik, Noémi Szépfalusi, Anita Must, László Vécsei, Mária Judit Molnár, Péter Klivényi
No abstract text is available yet for this article.
August 8, 2017: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/28793101/complex-educational-and-care-geron-technology-for-elderly-individuals-families-experiencing-alzheimer-s-disease
#12
Silomar Ilha, Silvana Sidney Costa Santos, Dirce Stein Backes, Edaiane Joana Lima Barros, Marlene Teda Pelzer, Regina Gema Santini Costenaro
Objective: To describe the contributions of the Integrated Multidisciplinary Care Group for Caregivers of Individuals with Alzheimer's Disease as an educational and care (geron)technology in the context of Alzheimer's disease in elderly individuals from the perspective of family members/caregivers. Method: Exploratory, descriptive study with a qualitative approach conducted with 13 family members/caregivers of elderly people participating in the support group of a university institution of the state of Rio Grande do Sul, Brazil...
July 2017: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/28790170/dimerization-of-the-transmembrane-domain-of-amyloid-precursor-protein-is-determined-by-residues-around-the-gamma-secretase-cleavage-sites
#13
Yan Yan, Ting-Hai Xu, Kaleeckal G Harikumar, Laurence J Miller, Karsten Melcher, H Eric Xu
One of the hallmarks of Alzheimer's disease (AD) is the formation of extracellular amyloid plaques that consist mainly of abnormally aggregated forms of amyloid β (Aβ) peptides. These peptides are generated by γ-secretase-catalyzed cleavage of a dimeric membrane-bound C-terminal fragment (C99) of the amyloid precursor protein (APP). While C99 homodimerization has been linked to Aβ; production and changes in the aggregation-determining Aβ42/Aβ40 ratio, the motif through which C99 dimerizes has remained controversial...
August 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28776874/overall-and-domain-specific-life-satisfaction-when-living-with-familial-alzheimer-s-disease-risk-a-quantitative-approach
#14
Mette Bergman, Caroline Graff, Maria Eriksdotter, Marja Schuster, Kerstin S Fugl-Meyer
In this study, we explored life satisfaction and sense of coherence in relation to biopsychosocial variables in individuals at risk for the development of familial Alzheimer's disease. Forty nine individuals (response rate: 96%) were interviewed. Life satisfaction was found to be high for the majority of participants. Those who were older than the expected age of onset of disease, those <6 years' inclusion in the Familial Alzheimer's disease biomarker study, and males tended to experience positive psychological health...
August 4, 2017: Nursing & Health Sciences
https://www.readbyqxmd.com/read/28775333/dual-specificity-tyrosine-phosphorylation-regulated-kinase-1a-gene-transcription-is-regulated-by-myocyte-enhancer-factor-2d
#15
Pin Wang, Luanluan Wang, Long Chen, Xiulian Sun
Dual-specificity tyrosine-phosphorylation regulated kinase 1A (DYRK1A) is localized in the Down syndrome critical region of chromosome 21. As a candidate gene responsible for learning defects associated with Down syndrome and Alzheimer's disease (AD), DYRK1A has been implied to play pivotal roles in cell proliferation and brain development. MEF2D, a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors, was proved to be in control of neuronal cell differentiation and development...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28774853/anti-alzheimer-s-potential-of-berberine-using-surface-decorated-multi-walled-carbon-nanotubes-a-preclinical-evidence
#16
Shikha Lohan, Kaisar Raza, S K Mehta, Gurjit Kaur Bhatti, Sumant Saini, Bhupinder Singh
Carbon nanotubes (CNTs), a sub-family of fullerenes, are nanosized seamless cylinders of graphene sheets with enormous drug loading potential. The current studies entail the systematic development of berberine (BRB)-loaded multiwalled carbon nanotubes (MWCNTs) with polysorbate and phospholipid coating for effective management of Alzheimer's Disease (AD). For systematic optimization using design of experiment (DoE), a central composite design (FCCD) was employed and the optimized formulation was choosen using numerical desirability function...
July 31, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28774215/smartphone-based-health-technologies-for-dementia-care-opportunities-challenges-and-current-practices
#17
Ellen Leslie Brown, Nicole Ruggiano, Juanjuan Li, Peter J Clarke, Emma S Kay, Vagelis Hristidis
Most of the 5.4 million people affected by Alzheimer's disease and other forms of dementia (AD) are noninstitutionalized, receiving care by unpaid family caregivers and medically managed by a primary care provider (PCP). Health Information Technology has been recognized for its potential in improving efficiency and quality of AD care and support for AD caregivers. Simultaneously, smartphone technologies have become an increasingly common way to deliver physical and behavioral health care. However, little is known about how smartphone technologies have been used to support AD caregiving and care...
August 1, 2017: Journal of Applied Gerontology: the Official Journal of the Southern Gerontological Society
https://www.readbyqxmd.com/read/28768718/app-mouse-models-for-alzheimer-s-disease-preclinical-studies
#18
REVIEW
Hiroki Sasaguri, Per Nilsson, Shoko Hashimoto, Kenichi Nagata, Takashi Saito, Bart De Strooper, John Hardy, Robert Vassar, Bengt Winblad, Takaomi C Saido
Animal models of human diseases that accurately recapitulate clinical pathology are indispensable for understanding molecular mechanisms and advancing preclinical studies. The Alzheimer's disease (AD) research community has historically used first-generation transgenic (Tg) mouse models that overexpress proteins linked to familial AD (FAD), mutant amyloid precursor protein (APP), or APP and presenilin (PS). These mice exhibit AD pathology, but the overexpression paradigm may cause additional phenotypes unrelated to AD Second-generation mouse models contain humanized sequences and clinical mutations in the endogenous mouse App gene...
August 1, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28766695/prevention-of-alzheimer-s-disease-lessons-learned-and-applied
#19
James E Galvin
Alzheimer's disease (AD) affects more than 5 million Americans, with substantial consequences for individuals with AD, families, and society in terms of morbidity, mortality, and healthcare costs. With disease-modifying treatment trials unsuccessful at the present time and only medications to treat symptoms available, an emerging approach is prevention. Advances in diagnostic criteria, biomarker development, and greater understanding of the biophysiological basis of AD make these initiatives feasible. Ongoing pharmacological trials using anti-amyloid therapies are underway in sporadic and genetic forms of AD, although a large number of modifiable risk factors for AD have been identified in observational studies, many of which do not appear to exert effects through amyloid or tau...
August 2, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28764909/a-novel-psen1-s230n-mutation-causing-early-onset-alzheimer-s-disease-associated-with-prosopagnosia-hoarding-and-parkinsonism
#20
John M Ringman, Maria Casado, Victoria Van Berlo, Judy Pa, Nelly Joseph-Mathurin, Anne M Fagan, Tammie Benzinger, Randall J Bateman, John C Morris
We describe clinical and biomarker findings in an index patient with the onset of Alzheimer's disease (AD) symptoms at age 57 and a family history consistent with an autosomal dominant pattern of inheritance. She had the atypical early features of visual agnosia and prosopagnosia followed by hoarding behavior and Parkinsonism. Structural MRI revealed global atrophy that was most severe in the lateral temporal lobes and insular cortex bilaterally. CSF biomarker assessment showed Aβ42, p-tau181, and total tau levels consistent with AD...
July 29, 2017: Neuroscience Letters
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