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Journal of Alzheimer's Disease: JAD

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https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#1
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059797/effect-of-spinal-manometers-on-cerebrospinal-fluid-amyloid-%C3%AE-concentration
#2
Jamie Toombs, Martha S Foiani, Ross W Paterson, Amanda Heslegrave, Selina Wray, Jonathan M Schott, Nick C Fox, Michael P Lunn, Kaj Blennow, Henrik Zetterberg
The effect of spinal manometers on cerebrospinal fluid (CSF) amyloid-β (Aβ) concentration was investigated. Pooled human CSF samples were divided in two, one half passed through a manometer into a collection tube, the other transferred directly to a collection tube. CSF was analyzed for Aβ38/40/42 using an electrochemiluminescence immunoassay. Relative to control, use of a manometer decreased Aβ38/40/42 concentration by 5.6% (±1.5SE), 4.4% (±1.7SE), and 4.3% (±2.4SE), respectively. The ratios of Aβ42 :40, Aβ42 :38, and Aβ40 :38 were not affected by manometer treatment...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059796/a-common-variant-in-the-mc1r-gene-p-v92m-is-associated-with-alzheimer-s-disease-risk
#3
Gemma Tell-Marti, Joan Anton Puig-Butille, Miriam Potrony, Estel Plana, Celia Badenas, Anna Antonell, Raquel Sanchez-Valle, José L Molinuevo, Alberto Lleó, Daniel Alcolea, Juan Fortea, Ruben Fernandez-Santiago, Jordi Clarimón, Albert Lladó, Susana Puig
Despite the recent identification of some novel risk genes for Alzheimer's disease (AD), the genetic etiology of late-onset Alzheimer's disease (LOAD) remains largely unknown. The inclusion of these novel risk genes to the risk attributable to the APOE gene accounts for roughly half of the total genetic variance in LOAD. The evidence indicates that undiscovered genetic factors may contribute to AD susceptibility. In the present study, we sequenced the MC1R gene in 525 Spanish LOAD patients and in 160 controls...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059795/evidence-of-a-cardiovascular-function-for-microtubule-associated-protein-tau
#4
Ashenafi H Betrie, Scott Ayton, Ashley I Bush, James A Angus, Peng Lei, Christine E Wright
Aggregation of tau protein into intracellular deposits is a pathognomonic feature of tauopathies such as Alzheimer's disease (AD) and lowering tau is a prominent therapeutic strategy under development. However, the physiological function of tau protein is not well known, particularly in the periphery. Lowering tau protein risks disrupting its physiological role leading to unwanted effects. In this study, the presence of tau protein in cardiac tissue is confirmed and the functional role in the cardiovascular system and the consequences of its loss were explored...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059794/oxidative-stress-synaptic-dysfunction-and%C3%A2-alzheimer-s-disease
#5
Eric Tönnies, Eugenia Trushina
Alzheimer's disease (AD) is a devastating neurodegenerative disorder without a cure. Most AD cases are sporadic where age represents the greatest risk factor. Lack of understanding of the disease mechanism hinders the development of efficacious therapeutic approaches. The loss of synapses in the affected brain regions correlates best with cognitive impairment in AD patients and has been considered as the early mechanism that precedes neuronal loss. Oxidative stress has been recognized as a contributing factor in aging and in the progression of multiple neurodegenerative diseases including AD...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059793/resveratrol-intervenes-in-the-cholesterol-and-isoprenoid-mediated-amyloidogenic-processing-of-a%C3%AE-pp-in-familial-alzheimer-s-disease
#6
Mohan Sathya, Ponnusamy Moorthi, Palanisamy Premkumar, Mahesh Kandasamy, Kesavan Swaminathan Jayachandran, Muthuswamy Anusuyadevi
Deterioration of cholesterol metabolism has recently been a frontier subject of investigation in the field of Alzheimer's disease (AD). Though amyloid-β protein precursor (AβPP) primes the pathological cascade, changes in cholesterol levels and its intermediates, geranyl geranyl pyrophosphate and farnesyl pyrophosphate, is expected to have a different consequence on AβPP processing and amyloid-β (Aβ) generation. However, the use of statins (HMG-COA reductase inhibitor) has been widely implicated in slowing down the pathogenic progression of AD, while the epidemiological reports on its biological effect remains controversial...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059791/mitochondrial-repair-effects-of-oxygen-treatment-on-alzheimer-s-disease-model-mice-revealed-by-quantitative-proteomics
#7
Hao Wang, Xiaoyu Hong, Yong Wang
Mitochondrial dysfunction plays a pivotal role in Alzheimer's disease (AD), even before signs of AD pathology are evident. Our previous research has shown that oxygen treatment can improve cognitive function in AD model mice. To address whether oxygen treatment is beneficial to mitochondrial biology, we analyzed differential expressions of hippocampal mitochondrial proteins in AD model mice given supplementary oxygen. Numerous respiratory chain, Kreb's cycle, and glycolysis proteins were upregulated significantly after oxygen treatment, suggesting that oxygen therapy can alleviate mitochondrial damage...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059790/combined-creutzfeldt-jakob-jacob-alzheimer-s-disease-cases-are-important-in-search-for-microbes-in-alzheimer-s-disease
#8
Frank O Bastian
The question whether Alzheimer's disease is infectious as brought up in the recent editorial published in the Journal of Alzheimer's Disease is complicated by the controversy whether the causal agent is a microbe or a misfolded host protein (amyloid). The replicating amyloid (prion) theory, based upon data from studies of Creutzfeldt-Jakob disease (CJD) and other transmissible spongiform encephalopathies (TSEs), has been challenged since the prion can be separated from TSE infectivity, and spiroplasma, a wall-less bacterium, has been shown to be involved in the pathogenesis of CJD...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059789/the-mild-behavioral-impairment-checklist%C3%A2-mbi-c-a-rating-scale-for%C3%A2-neuropsychiatric-symptoms-in%C3%A2-pre-dementia-populations
#9
Zahinoor Ismail, Luis Agüera-Ortiz, Henry Brodaty, Alicja Cieslak, Jeffrey Cummings, Corinne E Fischer, Serge Gauthier, Yonas E Geda, Nathan Herrmann, Jamila Kanji, Krista L Lanctôt, David S Miller, Moyra E Mortby, Chiadi U Onyike, Paul B Rosenberg, Eric E Smith, Gwenn S Smith, David L Sultzer, Constantine Lyketsos
BACKGROUND: Mild behavioral impairment (MBI) is a construct that describes the emergence at ≥50 years of age of sustained and impactful neuropsychiatric symptoms (NPS), as a precursor to cognitive decline and dementia. MBI describes NPS of any severity, which are not captured by traditional psychiatric nosology, persist for at least 6 months, and occur in advance of or in concert with mild cognitive impairment. While the detection and description of MBI has been operationalized in the International Society to Advance Alzheimer's Research and Treatment - Alzheimer's Association (ISTAART-AA) research diagnostic criteria, there is no instrument that accurately reflects MBI as described...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059788/silicic-acid-and-beer-consumption-reverses-the-metal-imbalance-and%C3%A2-the%C3%A2-prooxidant-status-induced-by%C3%A2-aluminum-nitrate-in-mouse-brain
#10
María José González-Muñoz, Alba Garcimartán, Isabel Meseguer, Carmen José Mateos-Vega, José María Orellana, Antonio Peña-Fernández, Juana Benedí, Francisco J Sánchez-Muniz
BACKGROUND: Emerging evidence suggests that by affecting mineral balance, aluminum (Al) may enhance some events associated with neurodegenerative diseases. AIM: To examine the effect of Al(NO3)3 exposure on brain Al, cooper (Cu), iron (Fe), magnesium (Mg), manganese (Mn), silicon (Si), and zinc (Zn) levels, and the metal-change implication in brain oxidant and inflammatory status. METHODS: Four groups of six-week-old male NMRI mice were treated for three months: i) controls, administrated with deionized water; ii) Al, which received Al(NO3)3; iii) Al+silicic acid, which were given Al(NO3)3 plus silicic acid; and iv) Al+beer, which received Al(NO3)3 plus beer...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059786/death-of-dementia-patients-in-psychiatric-hospitals-and-regional-supply-of-psychiatric-services-study-of-the-national-data-from-1996-to-2014-in-japan
#11
Miharu Nakanishi, Junko Niimura, Syudo Yamasaki, Atsushi Nishida
BACKGROUND: Japan designates psychiatric inpatient care for behavior management of individuals with dementia and for helping dementia patients discharge to home. However, there has been no examination of the effectiveness of this strategy. OBJECTIVE: The present study investigated the association between dementia and the discharge destination of patients in psychiatric hospitals. METHODS: Data from the National Patient Survey, which is a nationally representative cross-sectional survey of inpatient care, were used...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059785/amylin-enhances-amyloid-%C3%AE-peptide-brain-to-blood-efflux-across-the-blood-brain-barrier
#12
Loqman A Mohamed, Haihao Zhu, Youssef M Mousa, Erming Wang, Wei Qiao Qiu, Amal Kaddoumi
Findings from Alzheimer's disease (AD) mouse models showed that amylin treatment improved AD pathology and enhanced amyloid-β (Aβ) brain to blood clearance; however, the mechanism was not investigated. Using the Tg2576 AD mouse model, a single intraperitoneal injection of amylin significantly increased Aβ serum levels, and the effect was abolished by AC253, an amylin receptor antagonist, suggesting that amylin effect could be mediated by its receptor. Subsequent mechanistic studies showed amylin enhanced Aβ transport across a cell-based model of the blood-brain barrier (BBB), an effect that was abolished when the amylin receptor was inhibited by two amylin antagonists and by siRNA knockdown of amylin receptor Ramp3...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059784/an-international-comparative-study-on%C3%A2-driving-regulations-on-people-with%C3%A2-dementia
#13
You Joung Kim, Hoyoung An, Binna Kim, Young Shin Park, Ki Woong Kim
Over 40% of people with dementia drive, with a two to five times greater accident risk than controls. This has fueled public concerns about the risk of traffic accidents by drivers with dementia (DWD). We compared driving regulations on seniors and DWD between ten European and Asia-Pacific countries to identify key implications for national strategies. Moderate to severe dementia was a reason for driver's license revocation in all countries. However, regulations on mild dementia varied considerably, with most basing their decisions on severity, rather than simply the presence of dementia...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059783/improved-cerebrospinal-fluid-based-discrimination-between-alzheimer-s-disease-patients-and-controls-after-correction-for-ventricular-volumes
#14
Linda J C van Waalwijk van Doorn, Juan D Gispert, H Bea Kuiperij, Jurgen A H R Claassen, Andrea Arighi, Inês Baldeiras, Kaj Blennow, Marco Bozzali, Miguel Castelo-Branco, Enrica Cavedo, Derya D Emek-Savaş, Erden Eren, Paolo Eusebi, Lucia Farotti, Chiara Fenoglio, Juan Fortea Ormaechea, Yvonne Freund-Levi, Giovanni B Frisoni, Daniela Galimberti, Sermin Genc, Viviana Greco, Harald Hampel, Sanna-Kaisa Herukka, Yawu Liu, Albert Lladó, Alberto Lleó, Flavio M Nobili, Kader K Oguz, Lucilla Parnetti, João Pereira, Agnese Picco, Maria Pikkarainen, Catarina Resende de Oliveira, Esen Saka, Nicola Salvadori, Raquel Sanchez-Valle, Isabel Santana, Elio Scarpini, Philip Scheltens, Hilkka Soininen, Roberto Tarducci, Charlotte Teunissen, Magda Tsolaki, Andrea Urbani, Eduard Vilaplana Martinez, Pieter Jelle Visser, Asa K Wallin, Görsev Yener, José L Molinuevo, Olga Meulenbroek, Marcel M Verbeek
Cerebrospinal fluid (CSF) biomarkers may support the diagnosis of Alzheimer's disease (AD). We studied if the diagnostic power of AD CSF biomarker concentrations, i.e., Aβ42, total tau (t-tau), and phosphorylated tau (p-tau), is affected by differences in lateral ventricular volume (VV), using CSF biomarker data and magnetic resonance imaging (MRI) scans of 730 subjects, from 13 European Memory Clinics. We developed a Matlab-algorithm for standardized automated segmentation analysis of T1 weighted MRI scans in SPM8 for determining VV, and computed its ratio with total intracranial volume (TIV) as proxy for total CSF volume...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28059782/differential-hemispheric-predilection-of%C3%A2-microstructural-white-matter-and%C3%A2-functional-connectivity-abnormalities-between-respectively-semantic-and%C3%A2-behavioral-variant-frontotemporal-dementia
#15
Rozanna Meijboom, Rebecca M E Steketee, Leontine S Ham, Aad van der Lugt, John C van Swieten, Marion Smits
Semantic dementia (SD) and behavioral variant frontotemporal dementia (bvFTD), subtypes of frontotemporal dementia, are characterized by distinct clinical symptoms and neuroimaging features, with predominant left temporal grey matter (GM) atrophy in SD and bilateral or right frontal GM atrophy in bvFTD. Such differential hemispheric predilection may also be reflected by other neuroimaging features, such as brain connectivity. This study investigated white matter (WM) microstructure and functional connectivity differences between SD and bvFTD, focusing on the hemispheric predilection of these differences...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28339397/cognitive-status-gray-matter-atrophy-and-lower-orthostatic-blood-pressure-in-older-adults
#16
Celia O'Hare, Rose-Anne Kenny, Howard Aizenstein, Robert Boudreau, Anne Newman, Lenore Launer, Suzanne Satterfield, Kristine Yaffe, Caterina Rosano
BACKGROUND: Associations between orthostatic blood pressure and cognitive status (CS) have been described with conflicting results. OBJECTIVE: We hypothesize that long-term exposure to lower orthostatic blood pressure is related to having worse CS later in life and that atrophy of regions involved in central regulation of autonomic function mediate these associations. METHODS: Three-to-four measures of orthostatic blood pressure were obtained from 1997-2003 in a longitudinal cohort of aging, and average systolic orthostatic blood pressure response (ASOBPR) was computed as % change in systolic blood pressure from sit-to-stand measured at one minute post stand...
March 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28339396/modulation-of-a%C3%AE-pp-and-gsk3%C3%AE-by-endoplasmic-reticulum-stress-and-involvement-in-alzheimer-s-disease
#17
Xin-Jun Liu, Jun Wei, Ying-Hui Shang, Han-Chang Huang, Feng-Xue Lao
Alzheimer's disease (AD) is a dementia disease with neuronal loss and synaptic impairment. This impairment is caused, at least partly, by the generation of two main AD hallmarks, namely the hyperphosphorylated tau protein comprising neurofibrillary tangles and senile plaques containing amyloid-β (Aβ) peptides. The amyloid-β protein precursor (AβPP) and glycogen synthase kinase-3β (GSK3β) are two main proteins associated with AD and are closely correlated with these hallmarks. Recently, both of the proteins were reported to be modulated by endoplasmic reticulum stress (ERS) and are involved in the pathogenesis of AD...
March 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28304312/cognitive-rehabilitation-in-alzheimer-s-disease-a-controlled-intervention-trial
#18
Katharina Brueggen, Elisabeth Kasper, Sina Ochmann, Henrike Pfaff, Steffi Webel, Wolfgang Schneider, Stefan Teipel
BACKGROUND: Cognitive Rehabilitation for Alzheimer's disease (AD) is an integrative multimodal intervention. It aims to maintain autonomy and quality of life by enhancing the patients' abilities to compensate for decreased cognitive functioning. OBJECTIVE: We evaluated the feasibility of a group-based Cognitive Rehabilitation approach in mild AD dementia and assessed its effect on activities of daily living (ADL). METHODS: We included 16 patients with AD dementia in a controlled partial-randomized design...
March 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28304311/frontotemporal-dementia-due-to-the-novel-grn-arg161glyfsx36-mutation
#19
Stefano Gazzina, Silvana Archetti, Antonella Alberici, Elisa Bonomi, Maura Cosseddu, Diego Di Lorenzo, Alessandro Padovani, Barbara Borroni
Progranulin is a multifunctional growth factor mainly expressed in neurons and microglia. Loss-of-function mutations in the Granulin (GRN) gene are causative of frontotemporal dementia with TAR DNA-binding protein-43 inclusions. We reported the case of a 51-year-old male patient affected by sporadic agrammatic variant of primary progressive aphasia, in whom we identified a novel heterozygous deletion in the exon 6 (g.10338_39delAG, p.Arg161GlyfsX36). Plasma progranulin levels were significantly reduced and in silico analysis predicted a premature termination codon...
March 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28304308/violation-of-laws-in-frontotemporal-dementia-a-multicenter-study-in-japan
#20
Shunichiro Shinagawa, Kazue Shigenobu, Kenji Tagai, Ryuji Fukuhara, Naoto Kamimura, Takaaki Mori, Kenji Yoshiyama, Hiroaki Kazui, Kazuhiko Nakayama, Manabu Ikeda
Although violations of laws, such as shoplifting, are considered to be common in frontotemporal dementia (FTD) patients, there have been few studies on this subject and the frequencies and types of such violations have not been clarified. The objective of this study was to conduct a retrospective investigation of FTD patients in the psychiatry departments of multiple institutions to determine the types and frequencies of any law violations and compare them with those of AD patients. All patients were examined between January 2011 and December 2015 at the specialized dementia outpatient clinics of 10 facilities (5 psychiatry departments of university hospitals, 5 psychiatric hospitals)...
March 18, 2017: Journal of Alzheimer's Disease: JAD
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