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Autosomal dominant dementia

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https://read.qxmd.com/read/30899092/the-bdnf-val66met-snp-modulates-the-association-between-beta-amyloid-and-hippocampal-disconnection-in-alzheimer-s-disease
#1
Nicolai Franzmeier, Jinyi Ren, Alexander Damm, Gemma Monté-Rubio, Mercè Boada, Agustín Ruiz, Alfredo Ramirez, Frank Jessen, Emrah Düzel, Octavio Rodríguez Gómez, Tammie Benzinger, Alison Goate, Celeste M Karch, Anne M Fagan, Eric McDade, Katharina Buerger, Johannes Levin, Marco Duering, Martin Dichgans, Marc Suárez-Calvet, Christian Haass, Brian A Gordon, Yen Ying Lim, Colin L Masters, Daniel Janowitz, Cihan Catak, Steffen Wolfsgruber, Michael Wagner, Esther Milz, Sonia Moreno-Grau, Stefan Teipel, Michel J Grothe, Ingo Kilimann, Martin Rossor, Nick Fox, Christoph Laske, Jasmeer Chhatwal, Peter Falkai, Robert Perneczky, Jae-Hong Lee, Annika Spottke, Henning Boecker, Frederic Brosseron, Klaus Fliessbach, Michael T Heneka, Peter Nestor, Oliver Peters, Manuel Fuentes, Felix Menne, Josef Priller, Eike J Spruth, Christiana Franke, Anja Schneider, Christine Westerteicher, Oliver Speck, Jens Wiltfang, Claudia Bartels, Miguel Ángel Araque Caballero, Coraline Metzger, Daniel Bittner, Stephen Salloway, Adrian Danek, Jason Hassenstab, Igor Yakushev, Peter R Schofield, John C Morris, Randall J Bateman, Michael Ewers
In Alzheimer's disease (AD), a single-nucleotide polymorphism in the gene encoding brain-derived neurotrophic factor (BDNFVal66Met ) is associated with worse impact of primary AD pathology (beta-amyloid, Aβ) on neurodegeneration and cognitive decline, rendering BDNFVal66Met an important modulating factor of cognitive impairment in AD. However, the effect of BDNFVal66Met on functional networks that may underlie cognitive impairment in AD is poorly understood. Using a cross-validation approach, we first explored in subjects with autosomal dominant AD (ADAD) from the Dominantly Inherited Alzheimer Network (DIAN) the effect of BDNFVal66Met on resting-state fMRI assessed functional networks...
March 21, 2019: Molecular Psychiatry
https://read.qxmd.com/read/30897203/clinical-pathophysiological-and-genetic-features-of-motor-symptoms-in-autosomal-dominant-alzheimer-s-disease
#2
Jonathan Vöglein, Katrina Paumier, Mathias Jucker, Oliver Preische, Eric McDade, Jason Hassenstab, Tammie L Benzinger, James M Noble, Sarah B Berman, Neill R Graff-Radford, Bernardino Ghetti, Martin R Farlow, Jasmeer Chhatwal, Stephen Salloway, Chengjie Xiong, Celeste M Karch, Nigel Cairns, Hiroshi Mori, Peter R Schofield, Colin L Masters, Alison Goate, Virginia Buckles, Nick Fox, Martin Rossor, Patricio Chrem, Ricardo Allegri, John M Ringman, Günter Höglinger, Harald Steiner, Marianne Dieterich, Christian Haass, Christoph Laske, John C Morris, Randall J Bateman, Adrian Danek, Johannes Levin
Owing to an early and marked deposition of amyloid-β in the basal ganglia, autosomal dominant Alzheimer's disease could distinctly involve motor symptoms. Therefore, we aimed to assess the prevalence and characteristics of motor signs in autosomal dominant Alzheimer's disease. Baseline Unified Parkinson Disease Rating Scale part three scores (UPDRS-III) from 433 participants of the Dominantly Inherited Alzheimer's Network observational study were analysed. Motor symptoms were scrutinized with respect to associations with mutation carrier status, mutation site within PSEN1, basal ganglia amyloid-β as measured by Pittsburgh compound B PET, estimated years to symptom onset and Clinical Dementia Rating Scale-Sum of Boxes...
March 20, 2019: Brain: a Journal of Neurology
https://read.qxmd.com/read/30874922/loss-of-dpp6-in-neurodegenerative-dementia-a-genetic-player-in-the-dysfunction-of-neuronal-excitability
#3
Rita Cacace, Bavo Heeman, Sara Van Mossevelde, Arne De Roeck, Julie Hoogmartens, Peter De Rijk, Helena Gossye, Kristof De Vos, Wouter De Coster, Mojca Strazisar, Greet De Baets, Joost Schymkowitz, Frederic Rousseau, Nathalie Geerts, Tim De Pooter, Karin Peeters, Anne Sieben, Jean-Jacques Martin, Sebastiaan Engelborghs, Eric Salmon, Patrick Santens, Rik Vandenberghe, Patrick Cras, Peter P De Deyn, John C van Swieten, Cornelia M van Duijn, Julie van der Zee, Kristel Sleegers, Christine Van Broeckhoven
Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of neurodegeneration. In this study, we used paired-end short-read and direct long-read whole genome sequencing to investigate an unresolved autosomal dominant dementia family significantly linked to 7q36. We identified and validated a chromosomal inversion of ca. 4 Mb, segregating on the disease haplotype and disrupting the coding sequence of dipeptidyl-peptidase 6 gene (DPP6)...
March 14, 2019: Acta Neuropathologica
https://read.qxmd.com/read/30843473/clinical-presentation-of-rapidly-progressive-familial-danish-dementia
#4
Zhengqiu Zhou, Timothy J Ainger, Dong Y Han
Familial Danish dementia (FDD) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive hearing loss, cataracts, progressive ataxia, and dementia. While multiple pathophysiological studies exist in the literature, clinical case presentations are currently limited. We present a case of young-onset dementia in a 47-year-old patient with Danish heritage who was subsequently diagnosed FDD through genetic testing. Cognitive impairment was his initial symptom, followed by Parkinsonian symptoms, and mood disturbances...
March 7, 2019: Neurocase
https://read.qxmd.com/read/30820047/genetic-meta-analysis-of-diagnosed-alzheimer-s-disease-identifies-new-risk-loci-and-implicates-a%C3%AE-tau-immunity-and-lipid-processing
#5
Brian W Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C Bis, Vincent Damotte, Adam C Naj, Anne Boland, Maria Vronskaya, Sven J van der Lee, Alexandre Amlie-Wolf, Céline Bellenguez, Aura Frizatti, Vincent Chouraki, Eden R Martin, Kristel Sleegers, Nandini Badarinarayan, Johanna Jakobsdottir, Kara L Hamilton-Nelson, Sonia Moreno-Grau, Robert Olaso, Rachel Raybould, Yuning Chen, Amanda B Kuzma, Mikko Hiltunen, Taniesha Morgan, Shahzad Ahmad, Badri N Vardarajan, Jacques Epelbaum, Per Hoffmann, Merce Boada, Gary W Beecham, Jean-Guillaume Garnier, Denise Harold, Annette L Fitzpatrick, Otto Valladares, Marie-Laure Moutet, Amy Gerrish, Albert V Smith, Liming Qu, Delphine Bacq, Nicola Denning, Xueqiu Jian, Yi Zhao, Maria Del Zompo, Nick C Fox, Seung-Hoan Choi, Ignacio Mateo, Joseph T Hughes, Hieab H Adams, John Malamon, Florentino Sanchez-Garcia, Yogen Patel, Jennifer A Brody, Beth A Dombroski, Maria Candida Deniz Naranjo, Makrina Daniilidou, Gudny Eiriksdottir, Shubhabrata Mukherjee, David Wallon, James Uphill, Thor Aspelund, Laura B Cantwell, Fabienne Garzia, Daniela Galimberti, Edith Hofer, Mariusz Butkiewicz, Bertrand Fin, Elio Scarpini, Chloe Sarnowski, Will S Bush, Stéphane Meslage, Johannes Kornhuber, Charles C White, Yuenjoo Song, Robert C Barber, Sebastiaan Engelborghs, Sabrina Sordon, Dina Voijnovic, Perrie M Adams, Rik Vandenberghe, Manuel Mayhaus, L Adrienne Cupples, Marilyn S Albert, Peter P De Deyn, Wei Gu, Jayanadra J Himali, Duane Beekly, Alessio Squassina, Annette M Hartmann, Adelina Orellana, Deborah Blacker, Eloy Rodriguez-Rodriguez, Simon Lovestone, Melissa E Garcia, Rachelle S Doody, Carmen Munoz-Fernadez, Rebecca Sussams, Honghuang Lin, Thomas J Fairchild, Yolanda A Benito, Clive Holmes, Hata Karamujić-Čomić, Matthew P Frosch, Hakan Thonberg, Wolfgang Maier, Gena Roschupkin, Bernardino Ghetti, Vilmantas Giedraitis, Amit Kawalia, Shuo Li, Ryan M Huebinger, Lena Kilander, Susanne Moebus, Isabel Hernández, M Ilyas Kamboh, RoseMarie Brundin, James Turton, Qiong Yang, Mindy J Katz, Letizia Concari, Jenny Lord, Alexa S Beiser, C Dirk Keene, Seppo Helisalmi, Iwona Kloszewska, Walter A Kukull, Anne Maria Koivisto, Aoibhinn Lynch, Lluís Tarraga, Eric B Larson, Annakaisa Haapasalo, Brian Lawlor, Thomas H Mosley, Richard B Lipton, Vincenzo Solfrizzi, Michael Gill, W T Longstreth, Thomas J Montine, Vincenza Frisardi, Monica Diez-Fairen, Fernando Rivadeneira, Ronald C Petersen, Vincent Deramecourt, Ignacio Alvarez, Francesca Salani, Antonio Ciaramella, Eric Boerwinkle, Eric M Reiman, Nathalie Fievet, Jerome I Rotter, Joan S Reisch, Olivier Hanon, Chiara Cupidi, A G Andre Uitterlinden, Donald R Royall, Carole Dufouil, Raffaele Giovanni Maletta, Itziar de Rojas, Mary Sano, Alexis Brice, Roberta Cecchetti, Peter St George-Hyslop, Karen Ritchie, Magda Tsolaki, Debby W Tsuang, Bruno Dubois, David Craig, Chuang-Kuo Wu, Hilkka Soininen, Despoina Avramidou, Roger L Albin, Laura Fratiglioni, Antonia Germanou, Liana G Apostolova, Lina Keller, Maria Koutroumani, Steven E Arnold, Francesco Panza, Olymbia Gkatzima, Sanjay Asthana, Didier Hannequin, Patrice Whitehead, Craig S Atwood, Paolo Caffarra, Harald Hampel, Inés Quintela, Ángel Carracedo, Lars Lannfelt, David C Rubinsztein, Lisa L Barnes, Florence Pasquier, Lutz Frölich, Sandra Barral, Bernadette McGuinness, Thomas G Beach, Janet A Johnston, James T Becker, Peter Passmore, Eileen H Bigio, Jonathan M Schott, Thomas D Bird, Jason D Warren, Bradley F Boeve, Michelle K Lupton, James D Bowen, Petra Proitsi, Adam Boxer, John F Powell, James R Burke, John S K Kauwe, Jeffrey M Burns, Michelangelo Mancuso, Joseph D Buxbaum, Ubaldo Bonuccelli, Nigel J Cairns, Andrew McQuillin, Chuanhai Cao, Gill Livingston, Chris S Carlson, Nicholas J Bass, Cynthia M Carlsson, John Hardy, Regina M Carney, Jose Bras, Minerva M Carrasquillo, Rita Guerreiro, Mariet Allen, Helena C Chui, Elizabeth Fisher, Carlo Masullo, Elizabeth A Crocco, Charles DeCarli, Gina Bisceglio, Malcolm Dick, Li Ma, Ranjan Duara, Neill R Graff-Radford, Denis A Evans, Angela Hodges, Kelley M Faber, Martin Scherer, Kenneth B Fallon, Matthias Riemenschneider, David W Fardo, Reinhard Heun, Martin R Farlow, Heike Kölsch, Steven Ferris, Markus Leber, Tatiana M Foroud, Isabella Heuser, Douglas R Galasko, Ina Giegling, Marla Gearing, Michael Hüll, Daniel H Geschwind, John R Gilbert, John Morris, Robert C Green, Kevin Mayo, John H Growdon, Thomas Feulner, Ronald L Hamilton, Lindy E Harrell, Dmitriy Drichel, Lawrence S Honig, Thomas D Cushion, Matthew J Huentelman, Paul Hollingworth, Christine M Hulette, Bradley T Hyman, Rachel Marshall, Gail P Jarvik, Alun Meggy, Erin Abner, Georgina E Menzies, Lee-Way Jin, Ganna Leonenko, Luis M Real, Gyungah R Jun, Clinton T Baldwin, Detelina Grozeva, Anna Karydas, Giancarlo Russo, Jeffrey A Kaye, Ronald Kim, Frank Jessen, Neil W Kowall, Bruno Vellas, Joel H Kramer, Emma Vardy, Frank M LaFerla, Karl-Heinz Jöckel, James J Lah, Martin Dichgans, James B Leverenz, David Mann, Allan I Levey, Stuart Pickering-Brown, Andrew P Lieberman, Norman Klopp, Kathryn L Lunetta, H-Erich Wichmann, Constantine G Lyketsos, Kevin Morgan, Daniel C Marson, Kristelle Brown, Frank Martiniuk, Christopher Medway, Deborah C Mash, Markus M Nöthen, Eliezer Masliah, Nigel M Hooper, Wayne C McCormick, Antonio Daniele, Susan M McCurry, Anthony Bayer, Andrew N McDavid, John Gallacher, Ann C McKee, Hendrik van den Bussche, Marsel Mesulam, Carol Brayne, Bruce L Miller, Steffi Riedel-Heller, Carol A Miller, Joshua W Miller, Ammar Al-Chalabi, John C Morris, Christopher E Shaw, Amanda J Myers, Jens Wiltfang, Sid O'Bryant, John M Olichney, Victoria Alvarez, Joseph E Parisi, Andrew B Singleton, Henry L Paulson, John Collinge, William R Perry, Simon Mead, Elaine Peskind, David H Cribbs, Martin Rossor, Aimee Pierce, Natalie S Ryan, Wayne W Poon, Benedetta Nacmias, Huntington Potter, Sandro Sorbi, Joseph F Quinn, Eleonora Sacchinelli, Ashok Raj, Gianfranco Spalletta, Murray Raskind, Carlo Caltagirone, Paola Bossù, Maria Donata Orfei, Barry Reisberg, Robert Clarke, Christiane Reitz, A David Smith, John M Ringman, Donald Warden, Erik D Roberson, Gordon Wilcock, Ekaterina Rogaeva, Amalia Cecilia Bruni, Howard J Rosen, Maura Gallo, Roger N Rosenberg, Yoav Ben-Shlomo, Mark A Sager, Patrizia Mecocci, Andrew J Saykin, Pau Pastor, Michael L Cuccaro, Jeffery M Vance, Julie A Schneider, Lori S Schneider, Susan Slifer, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Mitchell Tang, Rudolph E Tanzi, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Yasaman Saba, Alberto Pilotto, Maria J Bullido, Oliver Peters, Paul K Crane, David Bennett, Paola Bosco, Eliecer Coto, Virginia Boccardi, Phil L De Jager, Alberto Lleo, Nick Warner, Oscar L Lopez, Martin Ingelsson, Panagiotis Deloukas, Carlos Cruchaga, Caroline Graff, Rhian Gwilliam, Myriam Fornage, Alison M Goate, Pascual Sanchez-Juan, Patrick G Kehoe, Najaf Amin, Nilifur Ertekin-Taner, Claudine Berr, Stéphanie Debette, Seth Love, Lenore J Launer, Steven G Younkin, Jean-Francois Dartigues, Chris Corcoran, M Arfan Ikram, Dennis W Dickson, Gael Nicolas, Dominique Campion, JoAnn Tschanz, Helena Schmidt, Hakon Hakonarson, Jordi Clarimon, Ron Munger, Reinhold Schmidt, Lindsay A Farrer, Christine Van Broeckhoven, Michael C O'Donovan, Anita L DeStefano, Lesley Jones, Jonathan L Haines, Jean-Francois Deleuze, Michael J Owen, Vilmundur Gudnason, Richard Mayeux, Valentina Escott-Price, Bruce M Psaty, Alfredo Ramirez, Li-San Wang, Agustin Ruiz, Cornelia M van Duijn, Peter A Holmans, Sudha Seshadri, Julie Williams, Phillippe Amouyel, Gerard D Schellenberg, Jean-Charles Lambert, Margaret A Pericak-Vance
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer's or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD...
March 2019: Nature Genetics
https://read.qxmd.com/read/30753379/tau-pet-in-autosomal-dominant-alzheimer-s-disease-relationship-with-cognition-dementia-and-other-biomarkers
#6
Brian A Gordon, Tyler M Blazey, Jon Christensen, Aylin Dincer, Shaney Flores, Sarah Keefe, Charles Chen, Yi Su, Eric M McDade, Guoqiao Wang, Yan Li, Jason Hassenstab, Andrew Aschenbrenner, Russ Hornbeck, Clifford R Jack, Beau M Ances, Sarah B Berman, Jared R Brosch, Douglas Galasko, Serge Gauthier, James J Lah, Mario Masellis, Christopher H van Dyck, Mark A Mintun, Gregory Klein, Smiljana Ristic, Nigel J Cairns, Daniel S Marcus, Chengjie Xiong, David M Holtzman, Marcus E Raichle, John C Morris, Randall J Bateman, Tammie L S Benzinger
Tauopathy is a hallmark pathology of Alzheimer's disease with a strong relationship with cognitive impairment. As such, understanding tau may be a key to clinical interventions. In vivo tauopathy has been measured using cerebrospinal fluid assays, but these do not provide information about where pathology is in the brain. The introduction of PET ligands that bind to paired helical filaments provides the ability to measure the amount and distribution of tau pathology. The heritability of the age of dementia onset tied to the specific mutations found in autosomal dominant Alzheimer's disease families provides an elegant model to study the spread of tau across the course of the disease as well as the cross-modal relationship between tau and other biomarkers...
February 11, 2019: Brain: a Journal of Neurology
https://read.qxmd.com/read/30745123/genetic-origin-of-a-large-family-with-a-novel-psen1-mutation-ile416thr
#7
Laura Ramirez Aguilar, Juliana Acosta-Uribe, Margarita M Giraldo, Sonia Moreno, Ana Baena, Diana Alzate, Rosario Cuastumal, David Aguillón, Lucía Madrigal, Amanda Saldarriaga, Alexander Navarro, Gloria P Garcia, Daniel C Aguirre-Acevedo, Ethan G Geier, J Nicholas Cochran, Yakeel T Quiroz, Richard M Myers, Jennifer S Yokoyama, Kenneth S Kosik, Francisco Lopera
INTRODUCTION: A small percentage of Alzheimer's disease (AD) cases are caused by genetic mutations with autosomal dominant inheritance. We report a family with a novel variant in PSEN1. METHODS: We performed clinical and genetic evaluation of 93 related individuals from a Colombian admixed population. 31 individuals had whole-genome sequencing. RESULTS: Genetic analysis revealed a missense variant in PSEN1 (NM_000021.3: c.1247T>C p.Ile416Thr), which originated on an African haplotype and segregated with AD logarithm of the odds score of 6...
February 8, 2019: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/30723775/heritability-in-frontotemporal-tauopathies
#8
Shelley L Forrest, Glenda M Halliday, Heather McCann, Andrew B McGeachie, Ciara V McGinley, John R Hodges, Olivier Piguet, John B Kwok, Maria G Spillantini, Jillian J Kril
Introduction: Exploring the degree of heritability in a large cohort of frontotemporal lobar degeneration with tau-immunopositive inclusions (FTLD-tau) and determining if different FTLD-tau subtypes are associated with stronger heritability will provide important insight into disease pathogenesis. Methods: Using modified Goldman pedigree classifications, heritability was examined in pathologically proven FTLD-tau cases with dementia at any time (n = 124) from the Sydney-Cambridge collection...
December 2019: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://read.qxmd.com/read/30716424/homozygosity-for-the-a431e-mutation-in-psen1-presenting-with-a-relatively-aggressive-phenotype
#9
John Parker, Tahseen Mozaffar, Ashlynn Messmore, Joshua L Deignan, Virginia E Kimonis, John M Ringman
OBJECTIVE: We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene. Presenilin1 mutations are associated with autosomal dominant Alzheimer's dementia with young and somewhat stereotyped onset. Such variants may cause Alzheimer's dementia through aberrant processing of amyloid precursor protein through effects on γ-secretase activity. γ-secretase is involved in the cleavage of many proteins critical to normal function, including brain development...
February 1, 2019: Neuroscience Letters
https://read.qxmd.com/read/30703749/amyloid-pet-pattern-with-dementia-and-amyloid-angiopathy-in-taiwan-familial-ad-with-d678h-app-mutation
#10
Chu-Yun Huang, Ing-Tsung Hsiao, Kun-Ju Lin, Kuo-Lun Huang, Hon-Chung Fung, Chi-Hung Liu, Ting-Yu Chang, Yi-Ching Weng, Wen-Chun Hsu, Tzu-Chen Yen, Chin-Chang Huang
INTRODUCTION: The novel D678H amyloid precursor protein (APP) gene mutation has been called the "Taiwan mutation". The study aims to identify amyloid deposition patterns and clinical features associated with this mutation. METHODS: we analyzed the clinical manifestations, brain neuroimages and 18 F-AV-45 positron emission tomography (PET) findings in symptomatic patients and asymptomatic subjects with the autosomal-dominant Alzheimer's disease (AD). We compared the amyloid deposition pattern among 10 patients with genetically-positive familial cognitive decline (CD), 18 patients with sporadic CD, and 19 healthy controls...
January 3, 2019: Journal of the Neurological Sciences
https://read.qxmd.com/read/30665799/general-anesthesia-considerations-in-cadasil-disease
#11
M Bermúdez-Triano, R Guerrero-Domínguez, A Martínez-Saniger, I Jiménez
CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy) disease is an inherited systemic arterial disease that affects the small and medium calibre cerebral vessels. Around 500 families are affected in the world, most of them in Europe. It is characterised by migraine attacks, subcortical dementia, neuropsychiatric disorders, and recurrent ischaemic strokes. The objective of this article is to describe, for the first time in the literature, the management by general anaesthesia of an intracranial neurosurgical procedure in a patient with CADASIL disease...
January 18, 2019: Revista Española de Anestesiología y Reanimación
https://read.qxmd.com/read/30651041/telemedicine-for-follow-up-of-rare-neurological-disease
#12
Jessica Walsh, Hugh S Markus
Background and Purpose- Providing ongoing care for rare neurological conditions is challenging. Telemedicine can reduce patient travel. We set up and evaluated a telemedicine service for patients with a genetic form of stroke and dementia cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Methods- One hundred fourteen patients with mutation-positive cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (64 telemedicine and 50 face-to-face) were recruited...
January 17, 2019: Stroke; a Journal of Cerebral Circulation
https://read.qxmd.com/read/30650353/microtubules-deform-the-nuclear-membrane-and-disrupt-nucleocytoplasmic-transport-in-tau-mediated-frontotemporal-dementia
#13
Francesco Paonessa, Lewis D Evans, Ravi Solanki, Delphine Larrieu, Selina Wray, John Hardy, Stephen P Jackson, Frederick J Livesey
The neuronal microtubule-associated protein tau, MAPT, is central to the pathogenesis of many dementias. Autosomal-dominant mutations in MAPT cause inherited frontotemporal dementia (FTD), but the underlying pathogenic mechanisms are unclear. Using human stem cell models of FTD due to MAPT mutations, we find that tau becomes hyperphosphorylated and mislocalizes to cell bodies and dendrites in cortical neurons, recapitulating a key early event in FTD. Mislocalized tau in the cell body leads to abnormal microtubule movements in FTD-MAPT neurons that grossly deform the nuclear membrane...
January 15, 2019: Cell Reports
https://read.qxmd.com/read/30640256/primary-progressive-aphasia-natural-history-in-an-italian-cohort
#14
Camilla Ferrari, Cristina Polito, Sara Vannucchi, Irene Piaceri, Silvia Bagnoli, Gemma Lombardi, Giulia Lucidi, Valentina Berti, Benedetta Nacmias, Sandro Sorbi
BACKGROUND/AIMS: Few longitudinal studies have explored the progression of cognitive and functional impairment of patients with primary progressive aphasia (PPA). The aims of the study were to describe the clinical, neuroimaging, and genetic features of a cohort of 68 PPA patients, and to outline the natural history of the disease. MATERIALS AND METHODS: A sample of 23 patients with the logopenic variant, 26 with the nonfluent/agrammatic variant, and 19 with the semantic variant was retrospectively collected and followed-up for a maximum of 6 years...
January 10, 2019: Alzheimer Disease and Associated Disorders
https://read.qxmd.com/read/30617627/autosomal-dominant-gene-negative-frontotemporal-dementia-think-of-sca17
#15
Diana Angelika Olszewska, E M Fallon, G M Pastores, K Murphy, A Blanco, T Lynch, S M Murphy
SCA 17 is a rare, autosomal dominant disorder caused by TBP gene CAG/CAA repeat expansion. Ataxia and dementia are common. The presence of frontal dysfunction at outset of the disease may mimic frontotemporal dementia (FTD). Parkinsonism, chorea, dystonia, and pyramidal signs may occur. We report an Irish family with autosomal dominant partially penetrant frontal dementia with cerebellar atrophy due to SCA17 and present detailed neuropsychological assessment for the first time. A 44-year-old doctor presented with 18-month history of behavioral problems...
January 8, 2019: Cerebellum
https://read.qxmd.com/read/30606247/clinical-and-neuropathological-phenotype-associated-with-the-novel-v189i-mutation-in-the-prion-protein-gene
#16
Giuseppe Di Fede, Marcella Catania, Cristiana Atzori, Fabio Moda, Claudio Pasquali, Antonio Indaco, Marina Grisoli, Marta Zuffi, Maria Cristina Guaita, Roberto Testi, Stefano Taraglio, Maria Sessa, Graziano Gusmaroli, Mariacarmela Spinelli, Giulia Salzano, Giuseppe Legname, Roberto Tarletti, Laura Godi, Maurizio Pocchiari, Fabrizio Tagliavini, Daniele Imperiale, Giorgio Giaccone
Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrPSc ). These disorders are unique as they occur as sporadic, genetic and acquired forms. Sporadic Creutzfeldt-Jakob Disease (CJD) is the most common human prion disease, accounting for approximately 85-90% of cases, whereas autosomal dominant genetic forms, due to mutations in the prion protein gene (PRNP), account for 10-15% of cases. Genetic forms show a striking variability in their clinical and neuropathological picture and can sometimes mimic other neurodegenerative diseases...
January 3, 2019: Acta Neuropathologica Communications
https://read.qxmd.com/read/30598257/mutation-screening-in-chinese-patients-with-familial-alzheimer-s-disease-by-whole-exome-sequencing
#17
Bin Jiang, Jiong Zhou, Hong-Lei Li, Yan-Gui Chen, Hong-Rong Cheng, Ling-Qi Ye, De-Shan Liu, Dian-Fu Chen, Qing-Qing Tao, Zhi-Ying Wu
Familial Alzheimer's disease (FAD) is characterized by a positive family history of dementia and typically occurs at an early age with an autosomal dominant pattern of inheritance. Amyloid precursor protein (APP), presenilin1 (PSEN1), and presenilin2 (PSEN2) are the major causative genes of FAD. The spectrum of mutations in patients with FAD has been investigated extensively in the Caucasian population but rarely in the Chinese population. Here, we performed whole-exome sequencing in a total of 15 unrelated Chinese patients with FAD...
December 6, 2018: Neurobiology of Aging
https://read.qxmd.com/read/30582889/clinical-genetic-and-neuroimaging-features-of-frontotemporal-dementia
#18
Rhian Convery, Simon Mead, Jonathan D Rohrer
Frontotemporal dementia (FTD) is a heterogeneous group of disorders causing neurodegeneration within a network of areas centred on the frontal and temporal lobes. Clinically, patients present with behavioural symptoms (behavioural variant FTD) or language disturbance (primary progressive aphasia), although there is an overlap with motor neurone disease and atypical parkinsonian disorders. Whilst neuroimaging commonly reveals abnormalities in the frontal and temporal lobes, a closer review identifies a more complex picture with a variable asymmetry of neuronal loss, widespread subcortical involvement, and in many cases more posterior cortical atrophy...
December 24, 2018: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/30581976/alzheimer-s-disease-in-down-syndrome-an-overlooked-population-for-prevention-trials
#19
REVIEW
André Strydom, Antonia Coppus, Rafael Blesa, Adrian Danek, Juan Fortea, John Hardy, Johannes Levin, Georg Nuebling, Anne-Sophie Rebillat, Craig Ritchie, Cornelia van Duijn, Shahid Zaman, Henrik Zetterberg
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. Individuals with DS have a lifetime risk for dementia in excess of 90%, and DS is now acknowledged to be a genetic form of AD similar to rare autosomal-dominant causes. Just as DS put the spotlight on amyloid precursor protein mutations, it is also likely to inform us of the impact of manipulating the amyloid pathway on treatment outcomes in AD...
2018: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://read.qxmd.com/read/30569014/simultaneously-evaluating-the-effect-of-baseline-levels-and-longitudinal-changes-in-disease-biomarkers-on-cognition-in-dominantly-inherited-alzheimer-s-disease
#20
Guoqiao Wang, Chengjie Xiong, Eric M McDade, Jason Hassenstab, Andrew J Aschenbrenner, Anne M Fagan, Tammie L S Benzinger, Brian A Gordon, John C Morris, Yan Li, Randall J Bateman
Introduction: As the role of biomarkers is increasing in Alzheimer's disease (AD) clinical trials, it is critical to use a comprehensive temporal biomarker profile that reflects both baseline and longitudinal assessments to establish a more precise association between the change in biomarkers and change in cognition. Because age of onset of dementia symptoms is highly predictable, and there are relatively few age-related comorbidities, the Dominantly Inherited Alzheimer Network autosomal dominant AD population affords a unique opportunity to investigate these relationships in a well-characterized population...
2018: Alzheimer's & Dementia: Translational Research & Clinical Interventions
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