Full Text Journal Articles by
Author Simon Mead

Advertisement

Find full text journal articles






The landscape of PrPC biosynthesis revealed by an arrayed genome-wide interference screen

Daniel Heinzer, Merve Avar, Daniel Patrick Pease, Ashutosh Dhingra, Jiang-An Yin, Elke Schaper, Berre Doğançay, Marc Emmenegger, Anna Spinelli, Kevin Maggi, Andra Chincisan, Simon Mead, Simone Hornemann, Peter Heutink, Adriano Aguzzi,

The availability of the cellular prion protein PrP C is limiting to prion replication, and its reduction greatly increases life expectancy in animal models of prion infection. Hence the proteins and the biochemical pathways controlling the biosynthesis and the degradation of PrPC may represent therapeutic targets. Here we performed an ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haïk, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr,

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP<sup>Sc</sup>). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):235-246]

Cited: 0 times

View full text PDF listing >>



Advertisement

Plasma amyloid-beta ratios in autosomal dominant Alzheimer’s disease: the influence of genotype

Antoinette O’Connor, Josef Pannee, Teresa Poole, Charles Arber, Erik Portelius, Imogen Swift, Amanda Heslegrave, Emily Abel, Nanet Willumsen, Helen Rice, Philip SJ Weston, Natalie Ryan, James Polke, Jennifer Nicholas, Simon Mead, Selina Wray, Lucía Chávez-Gutiérrez, Chris Frost, Kaj Blennow, Henrik Zetterberg, Nick Fox,

In-vitro studies of autosomal dominant Alzheimer’s disease implicate longer amyloid-beta peptides in pathogenesis, however less is known about the behaviour of these mutations in-vivo . In this cross-sectional cohort study, we used liquid chromatography-tandem mass spectrometry to analyse 66 plasma samples from individuals who were at-risk of inheriting a pathogenic ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Disease-related cortical thinning in presymptomatic granulin mutation carriers.

Sergi Borrego-Écija, Roser Sala-Llonch, John van Swieten, Barbara Borroni, Fermín Moreno, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, Robert Laforce, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Matthis Synofzik, Simon Ducharme, Johannes Levin, Adrian Danek, Alex Gerhard, Markus Otto, Chris Butler, Giovanni Frisoni, Sandro Sorbi, Carolin Heller, Martina Bocchetta, David M Cash, Rhian S Convery, Katrina M Moore, Jonathan D Rohrer, Raquel Sanchez-Valle, ,

Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI ... Read more >>

Neuroimage Clin (NeuroImage. Clinical)
[2021, 29:102540]

Cited: 0 times

View full text PDF listing >>



Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia.

Jessica L Panman, Vikram Venkatraghavan, Emma L van der Ende, Rebecca M E Steketee, Lize C Jiskoot, Jackie M Poos, Elise G P Dopper, Lieke H H Meeter, Laura Donker Kaat, Serge A R B Rombouts, Meike W Vernooij, Anneke J A Kievit, Enrico Premi, Maura Cosseddu, Elisa Bonomi, Jaume Olives, Jonathan D Rohrer, Raquel Sánchez-Valle, Barbara Borroni, Esther E Bron, John C Van Swieten, Janne M Papma, Stefan Klein, ,

<h4>Objective</h4>Progranulin-related frontotemporal dementia (FTD-<i>GRN</i>) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-<i>GRN</i>, in a data-driven way.<h4>Methods</h4>We included ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes.

Lianne M Reus, Bogdan Pasaniuc, Danielle Posthuma, Toni Boltz, , Yolande A L Pijnenburg, Roel A Ophoff,

<h4>Background</h4>The etiology of frontotemporal dementia (FTD) is poorly understood. To identify genes with predicted expression levels associated with FTD, we integrated summary statistics with external reference gene expression data using a transcriptome-wide association study approach.<h4>Methods</h4>FUSION software was used to leverage FTD summary statistics (all FTD: n = 2154 cases, n = 4308 ... Read more >>

Biol Psychiatry (Biological psychiatry)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Genetic testing in dementia - utility and clinical strategies.

Carolin A M Koriath, Joanna Kenny, Natalie S Ryan, Jonathan D Rohrer, Jonathan M Schott, Henry Houlden, Nick C Fox, Sarah J Tabrizi, Simon Mead,

Techniques for clinical genetic testing in dementia disorders have advanced rapidly but remain to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and can offer options ... Read more >>

Nat Rev Neurol (Nature reviews. Neurology)
[2021, 17(1):23-36]

Cited: 1 time

View full text PDF listing >>



Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease

Akin Nihat, Tze How Mok, Hans Odd, Andrew Thompson, Diana Caine, Kirsty McNiven, Veronica O’Donnell, Selam Tesfamichael, Peter Rudge, John Collinge, Simon Mead,

<h4>Objective</h4> Sporadic Creutzfeldt-Jakob disease (sCJD) causes rapidly-progressive dementia and complex abnormalities of motor systems with striking phenotypic heterogeneity, but no tools are available for the clinician to determine disease severity from bedside cognitive and neurological assessments. We used a robust statistical methodology and routinely-collected examination data to develop and validate ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia.

Kamen A Tsvetanov, Stefano Gazzina, P Simon Jones, John van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Jonathan D Rohrer, James B Rowe, ,

<h4>Introduction</h4>The presymptomatic phase of neurodegenerative disease can last many years, with sustained cognitive function despite progressive atrophy. We investigate this phenomenon in familial frontotemporal dementia (FTD).<h4>Methods</h4>We studied 121 presymptomatic FTD mutation carriers and 134 family members without mutations, using multivariate data-driven approach to link cognitive performance with both structural and ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gabor G Kovacs, Michael D Geschwind, Aili Golubjatnikov, Karl Frontzek, Herbert Budka, Adriano Aguzzi, Hata Karamujić-Čomić, Sven J van der Lee, Carla A Ibrahim-Verbaas, Cornelia M van Duijn, Beata Sikorska, Ewa Golanska, Pawel P Liberski, Miguel Calero, Olga Calero, Pascual Sanchez-Juan, Antonio Salas, Federico Martinón-Torres, Elodie Bouaziz-Amar, Stéphane Haïk, Jean-Louis Laplanche, Jean-Phillipe Brandel, Phillipe Amouyel, Jean-Charles Lambert, Piero Parchi, Anna Bartoletti-Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie Booth, Michael B Coulthart, Gerard H Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian Appleby, John Collinge, Simon Mead,

<h4>Background</h4>Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2020, 19(10):840-848]

Cited: 0 times

View full text PDF listing >>



Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease.

Luke C Dabin, Fernando Guntoro, Tracy Campbell, Tony Bélicard, Adam R Smith, Rebecca G Smith, Rachel Raybould, Jonathan M Schott, Katie Lunnon, Peter Sarkies, John Collinge, Simon Mead, Emmanuelle Viré,

Prion diseases are fatal and transmissible neurodegenerative disorders caused by the misfolding and aggregation of prion protein. Although recent studies have implicated epigenetic variation in common neurodegenerative disorders, no study has yet explored their role in human prion diseases. Here we profiled genome-wide blood DNA methylation in the most common ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 140(6):863-879]

Cited: 0 times

View full text PDF listing >>



Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S Melo, Julio C Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F Lucy Raymond, Jordi Corominas, Claire E L Smith, Hannie Kremer, Susan Downes, Graeme C Black, Andrew R Webster, Chris F Inglehearn, L Ingeborgh van den Born, Robert K Koenekoop, Michel Michaelides, Raj S Ramesar, Carel B Hoyng, Stefan Mundlos, Musa M Mhlanga, Frans P M Cremers, Michael E Cheetham, Susanne Roosing, Alison J Hardcastle,

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated in families lacking a molecular diagnosis. A refined locus for adRP on Chr17q22 (RP17) was delineated through genotyping and genome sequencing, leading to the identification of structural variants (SVs) that segregate with disease. ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2020, 107(5):802-814]

Cited: 0 times

View full text PDF listing >>



New insights on the genetic etiology of Alzheimer’s and related dementia

Céline Bellenguez, Fahri Küçükali, Iris Jansen, Victor Andrade, Sonia Moreno-Grau, Najaf Amin, Adam Naj, Benjamin Grenier-Boley, Rafael Campos-Martin, Peter Holmans, Anne Boland, Luca Kleineidam, Vincent Damotte, Sven van der Lee, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua Bis, Amber Yaqub, Ivana Prokic, Marcos Costa, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Mercè Boada, Dag Aarsland, Pablo García-González, Carla Abdelnour, Emilio Alarcón-Martín, Montserrat Alegret, Ignacio Alvarez, Victoria Álvarez, Nicola Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Ana Belén Pastor, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizzarro, Daniel Alcolea, Rafael Blesa, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Catherine Bresner, Keeley Brookes, Luis Ignacio Brusco, Katharina Bûrger, María Bullido, Vanessa Burholt, William Bush, Miguel Calero, Carole Dufouil, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Caterina Chillotti, Henry Brodaty, Simona Ciccone, Jurgen A.H.R. Claassen, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Emanuele Costantini, Carlo Custodero, Delphine Daian, Maria Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean-François Dartigues, Peter Paul de Deyn, Katia de Paiva Lopes, Lot de Witte, Stéphanie Debette, Jürgen Deckert, Teodoro del Ser, Nicola Denning, Anita DeStefano, Martin Dichgans, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Sebastiaan Engelborghs, Valentina Escott-Price, Ana Espinosa, Dolores Buiza-Rueda, Michael Ewers, Fabrizio Tagliavini, Sune Fallgaard Nielsen, Lucia Farotti, Chiara Fenoglio, Marta Fernández-Fuertes, John Hardy, Raffaele Ferrari, Catarina Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Juan Fortea, Silvia Fostinelli, Nick Fox, Emlio Franco-Macías, Ana Frank-García, Lutz Froelich, Daniela Galimberti, Jose Maria García-Alberca, Sebastian Garcia-Madrona, Guillermo García-Ribas, Geneviève Chene, Roberta Ghidoni, Ina Giegling, Giorgio Giaccone, Oliver Goldhardt, Antonio González-Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Jonathan Haines, Kara Hamilton-Nelson, Harald Hampel, Olivier Hanon, Annette Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael Heneka, Isabel Hernández, Martin Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Jack Humphrey, Geert Jan Biessels, Charlotte Johansson, Patrick Kehoe, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary Kosmidis, Pavel Kuksa, Brian Kunkle, Carmen Lage, Erika Laukka, Alessandra Lauria, Chien-Yueh Lee, Jenni Lehtisalo, Claudia Satizabal, Ondrej Lerch, Alberto Lleó, Rogelio Lopez, Oscar Lopez, Adolfo Lopez de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Juan Macías, Catherine MacLeod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Rachel Marshall, Eden Martin, Angel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Silvia Mendoza, Manuel Menéndez-González, Pablo Mir, Maria Teresa Periñán, Merel Mol, Laura Molina-Porcel, Laura Montrreal, Laura Morelli, Fermín Moreno, Kevin Morgan, Markus Nöthen, Carolina Muchnik, Benedetta Nacmias, Tiia Ngandu, Gael Nicolas, Børge Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Paolo Caffarra, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Alba Pérez-Cordón, Jordi,

<h4>ABSTRACT</h4> Alzheimer’s disease (AD) is a severe and incurable neurodegenerative disease, and the failure to find effective treatments suggests that the underlying pathology remains poorly understood. Due to its strong heritability, deciphering the genetic landscape of AD and related dementia (ADD) is a unique opportunity to advance our knowledge. We ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.

Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohrer, ,

A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and ... Read more >>

Cortex (Cortex; a journal devoted to the study of the nervous system and behavior)
[2020, 133:384-398]

Cited: 0 times

View full text PDF listing >>



Cognitive decline heralds onset of symptomatic inherited prion disease

Joseph Mole, Simon Mead, Peter Rudge, Akin Nihat, Mok Tzehow, John Collinge, Diana Caine,

The clinical effectiveness of any disease-modifying treatment for prion disease, as for other neurodegenerative disorders, will depend on early treatment before damage to neural tissue is irrevocable. Thus, there is a need to identify markers which predict disease onset in healthy at-risk individuals. Whilst imaging and neurophysiological biomarkers have shown ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Marked abnormalities of plasma protein biomarkers in Creutzfeldt-Jakob disease (CJD).

Simon Mead,

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(11):1137]

Cited: 0 times

View full text PDF listing >>



Potential human transmission of amyloid β pathology: surveillance and risks.

Elsa Lauwers, Giovanna Lalli, Sebastian Brandner, John Collinge, Veerle Compernolle, Charles Duyckaerts, Gustaf Edgren, Stéphane Haïk, John Hardy, Adel Helmy, Adrian J Ivinson, Zane Jaunmuktane, Mathias Jucker, Richard Knight, Robin Lemmens, I-Chun Lin, Seth Love, Simon Mead, V Hugh Perry, James Pickett, Guy Poppy, Sheena E Radford, Frederic Rousseau, Carol Routledge, Giampietro Schiavo, Joost Schymkowitz, Dennis J Selkoe, Colin Smith, Dietmar R Thal, Tom Theys, Pierre Tiberghien, Peter van den Burg, Philippe Vandekerckhove, Clare Walton, Hans L Zaaijer, Henrik Zetterberg, Bart De Strooper,

Studies in experimental animals show transmissibility of amyloidogenic proteins associated with prion diseases, Alzheimer's disease, Parkinson's disease, and other neurodegenerative diseases. Although these data raise potential concerns for public health, convincing evidence for human iatrogenic transmission only exists for prions and amyloid β after systemic injections of contaminated growth hormone ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2020, 19(10):872-878]

Cited: 2 times

View full text PDF listing >>



Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease

Luke Dabin, Fernando Guntoro, Tracy Campbell, Tony Bélicard, Adam Smith, Rebecca Smith, Rachel Raybould, Jonathan Schott, Katie Lunnon, Peter Sarkies, John Collinge, Simon Mead, Emmanuelle Viré,

Prion diseases are fatal and transmissible neurodegenerative disorders caused by the misfolding and aggregation of prion protein. Although recent studies have implicated epigenetic variation in common neurodegenerative disorders, no study has yet explored their role in human prion diseases. Here we profiled genome-wide blood DNA methylation in the most common ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Exome sequencing identifies novel AD-associated genes

Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Detelina Grozeva, Jeroen G.J. van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny Norsworthy, Oriol Dols-Icardo, Holger Hummerich, Amit Kawalia, Philippe Amouyel, Gary Beecham, Claudine Berr, Joshua Bis, Anne Boland, Paola Bossù, Femke Bouwman, Dominique Campion, Antonio Daniele, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita DeStefano, Lindsay Farrer, Nick Fox, Daniela Galimberti, Emmanuelle Genin, Jonathan Haines, Clive Holmes, Arfan Ikram, Kamran Ikram, Iris Jansen, Robert Kraaij, Marc Lathrop, Evelien Lemstra, Alberto Lleó, Lauren Luckcuck, Rachel Marshall, Eden Martin, Carlo Masullo, Richard Mayeux, Patrizia Mecocci, Alun Meggy, Merel Mol, Kevin Morgan, Benedetta Nacmia, Adam Naj, Pau Pastor, Margaret Pericak-Vance, Rachel Raybould, Richard Redon, Anne-Claire Richard, Steffi Riedel-Heller, Fernando Rivadeneira, Stéphane Rousseau, Natalie Ryan, Salha Saad, Pascual Sanchez-Juan, Gerard Schellenberg, Philip Scheltens, Jonathan Schott, Davide Seripa, Gianfranco Spalleta, Betty Tijms, André Uitterlinden, Sven van der Lee, Michael Wagner, David Wallon, Li-San Wang, Aline Zarea, Marcel J.T. Reinders, Jordi Clarimon, John van Swieten, John Hardy, Alfredo Ramirez, Simon Mead, Wiesje van der Flier, Cornelia van Duijn, Julie Williams, Gaël Nicolas, Céline Bellenguez, Jean-Charles Lambert,

<h4>Background</h4> With the development of next-generation sequencing technologies, it is possible to identify rare genetic variants that influence the risk of complex disorders. To date, whole exome sequencing (WES) strategies have shown that specific clusters of damaging rare variants in the TREM2, SORL1 and ABCA7 genes are associated with an ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis.

Penny J Norsworthy, Andrew G B Thompson, Tze H Mok, Fernando Guntoro, Luke C Dabin, Akin Nihat, Ross W Paterson, Jonathan M Schott, John Collinge, Simon Mead, Emmanuelle A Viré,

Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No clinical blood tests are available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) expression in sCJD. Sequencing of 57 sCJD patients, and healthy controls reveals differential expression of hsa-let-7i-5p, ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):3960]

Cited: 0 times

View full text PDF listing >>



Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases

Andrew GB Thompson, Prodromos Anastasiadis, Ronald Druyeh, Ines Whitworth, Annapurna Nayak, Akin Nihat, Tze How Mok, Peter Rudge, Jonathan DF Wadsworth, Jonathan Rohrer, Jonathan Schott, Amanda Heslegrave, Henrik Zetterberg, John Collinge, Graham Jackson, Simon Mead,

<h4>ABSTRACT</h4> Prion diseases are fatal neurodegenerative conditions with highly accurate CSF and imaging diagnostic markers, but major unmet needs for blood biomarkers. Using ultrasensitive immuno-assays, we measured tau and neurofilament light chain (NfL) protein concentrations in 709 plasma samples taken from 377 individuals with prion disease during a 12-year prospective ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.

Yixin Gao, Ting Wang, Xinghao Yu, , Huashuo Zhao, Ping Zeng,

We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):12184]

Cited: 0 times

View full text PDF listing >>



Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.

Antoinette O'Connor, Thomas K Karikari, Teresa Poole, Nicholas J Ashton, Juan Lantero Rodriguez, Ayesha Khatun, Imogen Swift, Amanda J Heslegrave, Emily Abel, Elisha Chung, Philip S J Weston, Ivanna M Pavisic, Natalie S Ryan, Suzie Barker, Martin N Rossor, James M Polke, Chris Frost, Simon Mead, Kaj Blennow, Henrik Zetterberg, Nick C Fox,

Blood biomarkers have great potential to advance clinical care and accelerate trials in Alzheimer's disease (AD). Plasma phospho-tau181 (p-tau181) is a promising blood biomarker however, it is unknown if levels increase in presymptomatic AD. Therefore, we investigated the timing of p-tau181 changes using 153 blood samples from 70 individuals in ... Read more >>

Mol Psychiatry (Molecular psychiatry)
[2020, :]

Cited: 2 times

View full text PDF listing >>



Genetic risk factors for Creutzfeldt-Jakob disease.

Emma Jones, Simon Mead,

Prion diseases are a group of fatal neurodegenerative disorders of mammals that share a central role for prion protein (PrP, gene PRNP) in their pathogenesis. Prions are infectious agents that account for the observed transmission of prion diseases between humans and animals in certain circumstances. The prion mechanism invokes a ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2020, 142:104973]

Cited: 0 times

View full text PDF listing >>



Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.

Emmanuel A Asante, Jacqueline M Linehan, Andrew Tomlinson, Tatiana Jakubcova, Shyma Hamdan, Andrew Grimshaw, Michelle Smidak, Asif Jeelani, Akin Nihat, Simon Mead, Sebastian Brandner, Jonathan D F Wadsworth, John Collinge,

Inherited prion diseases are caused by autosomal dominant coding mutations in the human prion protein (PrP) gene (PRNP) and account for about 15% of human prion disease cases worldwide. The proposed mechanism is that the mutation predisposes to conformational change in the expressed protein, leading to the generation of disease-related ... Read more >>

PLoS Biol (PLoS biology)
[2020, 18(6):e3000725]

Cited: 1 time

View full text PDF listing >>



Advertisement

Disclaimer
1.4501 s