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1. The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

Author: Weiner, MW, Aisen, P, Petersen, R, Jack, CR, Jagust, W, Trojanowki, JQ, Toga, AW, Beckett, L, Green, RC, Saykin, AJ, Morris, JC, Perrin, RJ, Shaw, LM, Khachaturian, Z, Carrillo, M, Potter, W, Barnes, L, Bernard, M, González, H, Ho, C, Hsiao, JK, Jackson, J, Masliah, E, Masterman, D, Okonkwo, O, Perrin, R, Ryan, L, Silverberg, N, Fleisher, A, Sacrey, DT, Fockler, J, Conti, C, Veitch, D, Neuhaus, J, Jin, C, Nosheny, R, Ashford, M, Flenniken, D, Kormos, A, Monine, T, Rafii, M, Raman, R, Jimenez, G, Donohue, M, Gessert, D, Salazar, J, Zimmerman, C, Cabrera, Y, Walter, S, Miller, G, Coker, G, Clanton, T, Hergesheimer, L, Smith, S, Adegoke, O, Mahboubi, P, Moore, S, Pizzola, J, Shaffer, E, Sloan, B, Harvey, D, Forghanian-Arani, A, Borowski, B, Ward, C, Schwarz, C, Jones, D, Gunter, J, Kantarci, K, Senjem, M, Vemuri, P, Reid, R, Fox, NC, Malone, I, Thompson, P, Thomopoulos, SI, Nir, TM, Jahanshad, N, DeCarli, C, Knaack, A, Fletcher, E, Tosun-Turgut, D, Chen, SR, Choe, M, Crawford, K, Yushkevich, PA, Das, S, Koeppe, RA, Reiman, EM, Chen, K, Mathis, C, Landau, S, Cairns, NJ, Householder, E, Franklin, E, Bernhardt, H, Taylor-Reinwald, L, Tojanowki, JQ, Korecka, M, and Figurski, M
Subjects: Biological Sciences, Genetics, Prevention, Human Genome, 2.1 Biological and endogenous factors, Good Health and Well Being, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Knowledge Bases, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Risk Factors, Alzheimer’s Disease Neuroimaging Initiative, Biological sciences, Biomedical and clinical sciences
Abstract: The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu ) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer's Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.
Published: 2022

2. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Author: Coleman, A, Santos, R Dar, Decolongon, J, Sturrock, A, Bardinet, E, Ret, C Jauff, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, SJA, Dumas, E M, van der Grond, J, t'Hart, EP, Jurgens, C, Witjes-Ane, M-N, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, N C, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, D M, Berna, C, Bechtel, N, Bohlen, S, Man, A Hoff, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, HD, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, S C, Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A.C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthias, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthias, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S.E., Verhoeven, Marloes E., van Vugt, Jeroen P.P., de Weert, A. Marit, Bolwijn, J.J.W., Dekker, M., Kremer, B., Leenders, K.L., van Oostrom, J.C.H., van den Bogaard, Simon J.A., Dumas, Eve M., 't Hart, Ellen P., Kremer, Berry, Verstappen, C.C.P., Aaserud, Olaf, C, Jan Frich, Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lars, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlos, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badenes, Hernanz, Laura Casas, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Blas, Fenollar, María, García, Rocío García-Ramos, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatás, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivancos, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlos, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Navas, Rodríguez, María José Torres, Pastor, Barbara Vives, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolores, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Luis, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andres, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnus, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jens, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, McGill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Moss, Davina J Hensman, Pardiñas, Antonio F, Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R, Roos, Raymund, Durr, Alexandra, Mead, Simon, Holmans, Peter, and Tabrizi, Sarah J
Published: 2017
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3. Patterns of white matter tract degeneration and grey matter loss in posterior cortical atrophy and typical amnestic presentations of Alzheimerʼs disease: SC311

Author: Ryan, N. S., Malone, I., Lehmann, M., Crutch, S., Ourselin, S., Ciccarelli, O., and Fox, N. C.
Published: 2010

4. Association of CAG Repeats With Long-term Progression in Huntington Disease

Author: Langbehn, D.R., Stout, J.C., Gregory, S., Mills, J.A., Durr, A., Leavitt, B.R., Roos, R.A.C., Long, J.D., Owen, G., Johnson, H.J., Borowsky, B., Craufurd, D., Reilmann, R., Landwehrmeyer, G.B., Scahill, R.I., Tabrizi, S.J., Acharya, T., Andrews, S., Arran, N., Axelson, E., Bardinet, E., Bechtel, N., Berna, C., Bohlen, S., Callaghan, J., Cassidy, A., Coleman, A., Crawford, H., Santos, R.D., Decolongon, J., Dumas, E., Fan, M.N., Frost, C., Ghosh, R., Gibbard, C., Hensman-Moss, D., Hobbs, N., Jauffret, C., Johnson, E., Jones, R., Jurgens, C., Justo, D., Keogh, R., Koren, T., Labuschagne, I., Lahiri, N., Lehericy, S., Malone, I., Marelli, C., McColgan, P., Nigaud, K., O'Regan, A., Papoutsi, M., Pepple, T., Petkau, T., Queller, S., Read, J., Say, M., Schoonderbeek, A., Stopford, C., Sturrock, A., Hart, E. 't, Valabregue, R., Bogaard, S. van den, Grond, J. van der, Wang, C.C., Weber, N., Whitehead, D., Witjes-Ane, M.N., and TRACK-HD Track-On HD Grps
Subjects: medicine.medical_specialty, business.industry, Clinical study design, Disease, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Huntington's disease, Sample size determination, Internal medicine, Brain size, medicine, 030212 general & internal medicine, Neurology (clinical), business, Trinucleotide repeat expansion, Prospective cohort study, 030217 neurology & neurosurgery, Original Investigation
Abstract: Importance In Huntington disease (HD), mutation severity is defined by the length of the CAG trinucleotide sequence, a well-known predictor of clinical onset age. The association with disease trajectory is less well characterized. Quantifiable summary measures of trajectory applicable over decades of early disease progression are lacking. An accurate model of the age-CAG association with early progression is critical to clinical trial design, informing both sample size and intervention timing. Objective To succinctly capture the decades-long early progression of HD and its dependence on CAG repeat length. Design, Setting, and Participants Prospective study at 4 academic HD treatment and research centers. Participants were the combined sample from the TRACK-HD and Track-On HD studies consisting of 290 gene carriers (presymptomatic to stage II), recruited from research registries at participating centers, and 153 nonbiologically related controls, generally spouses or friends. Recruitment was targeted to match a balanced, prespecified spectrum of age, CAG repeat length, and diagnostic status. In the TRACK-HD and Track-On HD studies, 13 and 5 potential participants, respectively, failed study screening. Follow-up ranged from 0 to 6 years. The study dates were January 2008 to November 2014. These analyses were performed between December 2015 and January 2019. Main Outcomes and Measures The outcome measures were principal component summary scores of motor-cognitive function and of brain volumes. The main outcome was the association of these scores with age and CAG repeat length. Results We analyzed 2065 visits from 443 participants (247 female [55.8%]; mean [SD] age, 44.4 [10.3] years). Motor-cognitive measures were highly correlated and had similar CAG repeat length–dependent associations with age. A composite summary score accounted for 67.6% of their combined variance. This score was well approximated by a score combining 3 items (total motor score, Symbol Digit Modalities Test, and Stroop word reading) from the Unified Huntington’s Disease Rating Scale. For either score, initial progression age and then acceleration rate were highly CAG repeat length dependent. The acceleration continues through at least stage II disease. In contrast, 3 distinct patterns emerged among brain measures (basal ganglia, gray matter, and a combination of whole-brain, ventricular, and white matter volumes). The basal ganglia pattern showed considerable change in even the youngest participants but demonstrated minimal acceleration of loss with aging. Each clinical and brain summary score was strongly associated with the onset and rate of decline in total functional capacity. Conclusions and Relevance Results of this study suggest that succinct summary measures of function and brain loss characterize HD progression across a wide disease span. CAG repeat length strongly predicts their decline rate. This work aids our understanding of the age and CAG repeat length–dependent association between changes in the brain and clinical manifestations of HD.
Published: 2019

5. Apathy associated with impaired recognition of happy facial expressions in Huntington's disease

Author: Osborne-Crowley, K., Andrews, S.C., Labuschagne, I., Nair, A., Scahill, R., Craufurd, D., Tabrizi, S.J., Stout, J.C., Campbell, C., Campbell, M., Frajman, E., Milchman, C., O'Regan, A., Coleman, A., Santos, R.D., Decolongon, J., Sturrock, A., Bardinet, E., Jauffret, C., Justo, D., Lehericy, S., Marelli, C., Nigaud, K., Pourchot, P., Valabregue, R., Bechtel, N., Bohlen, S., Reilmann, R., Hoffman, A., Kraus, P., Landwehrmeyer, B., Bogaard, S.J.A. van den, Dumas, E.M., Grond, J. van der, t'Hart, E.P., Jurgens, C., Witjes-Ane, M.N., Arran, N., Callaghan, J., Stopford, C., Frost, C., Jones, R., Berna, C., Crawford, H., Fox, N., Gibbard, C., Hobbs, N., Lahiri, N., Malone, I., Ordidge, R., Owen, G., Patel, A., Pepple, T., Read, J., Say, M., Whitehead, D., Wild, E., Keenan, S., Cash, D.M., Hicks, S., Kennard, C., Acharya, T., Axelson, E., Johnson, H., Langbehn, D., Wang, C., Lee, S., Monaco, W., Rosas, H., Queller, S., Whitlock, K., Borowsky, B., Tobin, A., and TRACK-HD Investigators
Subjects: Adult, Male, cognition, Emotions, emotion, apathy, Neuropathology, Article, social behavior, Huntington's disease, Rating scale, cognition disorders, medicine, Humans, Psychological testing, Apathy, Cognitive skill, Facial expression, General Neuroscience, Cognition, Middle Aged, medicine.disease, Facial Expression, Psychiatry and Mental health, Clinical Psychology, Huntington Disease, Social Perception, Female, Neurology (clinical), medicine.symptom, Psychology, Facial Recognition, Clinical psychology, Huntington’s disease
Abstract: Objectives: Previous research has demonstrated an association between emotion recognition and apathy in several neurological conditions involving fronto-striatal pathology, including Parkinson’s disease and brain injury. In line with these findings, we aimed to determine whether apathetic participants with early Huntington’s disease (HD) were more impaired on an emotion recognition task compared to non-apathetic participants and healthy controls. Methods: We included 43 participants from the TRACK-HD study who reported apathy on the Problem Behaviours Assessment – short version (PBA-S), 67 participants who reported no apathy, and 107 controls matched for age, sex, and level of education. During their baseline TRACK-HD visit, participants completed a battery of cognitive and psychological tests including an emotion recognition task, the Hospital Depression and Anxiety Scale (HADS) and were assessed on the PBA-S. Results: Compared to the non-apathetic group and the control group, the apathetic group were impaired on the recognition of happy facial expressions, after controlling for depression symptomology on the HADS and general disease progression (Unified Huntington’s Disease Rating Scale total motor score). This was despite no difference between the apathetic and non-apathetic group on overall cognitive functioning assessed by a cognitive composite score. Conclusions: Impairment of the recognition of happy expressions may be part of the clinical picture of apathy in HD. While shared reliance on frontostriatal pathways may broadly explain associations between emotion recognition and apathy found across several patient groups, further work is needed to determine what relationships exist between recognition of specific emotions, distinct subtypes of apathy and underlying neuropathology. (JINS, 2019, 25, 453–461)
Published: 2019

6. MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

Author: Flower, M, Lomeikaite, V, Ciosi, M, Cumming, S, Morales, F, Lo, K, Hensman Moss, D, Jones, L, Holmans, P, Monckton, DG, Tabrizi, SJ, Kraus, P, Hoffman, R, Tobin, A, Borowsky, B, Keenan, S, Whitlock, KB, Queller, S, Campbell, C, Wang, C, Langbehn, D, Axelson, E, Johnson, H, Acharya, T, Cash, DM, Frost, C, Jones, R, Jurgens, C, Hart, EPT, Van Der Grond, J, Witjes- Ane, MNN, Roos, RAC, Dumas, EM, Van Den Bogaard, SJA, Stopford, C, Craufurd, D, Callaghan, J, Arran, N, Rosas, DD, Lee, S, Monaco, W, O'Regan, A, Milchman, C, Frajman, E, Labuschagne, I, Stout, J, Campbell, M, Andrews, SC, Bechtel, N, Reilmann, R, Bohlen, S, Kennard, C, Berna, C, Hicks, S, Durr, A, Pourchot, C, Bardinet, E, Nigaud, K, Valabrègue, R, Lehericy, S, Marelli, C, Jauffret, C, Justo, D, Leavitt, B, Decolongon, J, Sturrock, A, Coleman, A, Dar Santos, R, Patel, A, Gibbard, C, Whitehead, D, Wild, E, Owen, G, Crawford, H, Malone, I, Lahiri, N, Fox, NC, Hobbs, NZ, Scahill, RI, Ordidge, R, Pepple, T, Read, J, Say, MJ, Landwehrmeyer, B, Daidj, F, Bassez, G, Lignier, B, Couppey, F, Delmas, S, Deux, JF, Hankiewicz, K, Dogan, C, Minier, L, Chevalier, P, Hamadouche, A, Catt, M, Van Hees, V, Catt, S, Schwalber, A, Dittrich, J, Flower, M, Lomeikaite, V, Ciosi, M, Cumming, S, Morales, F, Lo, K, Hensman Moss, D, Jones, L, Holmans, P, Monckton, DG, Tabrizi, SJ, Kraus, P, Hoffman, R, Tobin, A, Borowsky, B, Keenan, S, Whitlock, KB, Queller, S, Campbell, C, Wang, C, Langbehn, D, Axelson, E, Johnson, H, Acharya, T, Cash, DM, Frost, C, Jones, R, Jurgens, C, Hart, EPT, Van Der Grond, J, Witjes- Ane, MNN, Roos, RAC, Dumas, EM, Van Den Bogaard, SJA, Stopford, C, Craufurd, D, Callaghan, J, Arran, N, Rosas, DD, Lee, S, Monaco, W, O'Regan, A, Milchman, C, Frajman, E, Labuschagne, I, Stout, J, Campbell, M, Andrews, SC, Bechtel, N, Reilmann, R, Bohlen, S, Kennard, C, Berna, C, Hicks, S, Durr, A, Pourchot, C, Bardinet, E, Nigaud, K, Valabrègue, R, Lehericy, S, Marelli, C, Jauffret, C, Justo, D, Leavitt, B, Decolongon, J, Sturrock, A, Coleman, A, Dar Santos, R, Patel, A, Gibbard, C, Whitehead, D, Wild, E, Owen, G, Crawford, H, Malone, I, Lahiri, N, Fox, NC, Hobbs, NZ, Scahill, RI, Ordidge, R, Pepple, T, Read, J, Say, MJ, Landwehrmeyer, B, Daidj, F, Bassez, G, Lignier, B, Couppey, F, Delmas, S, Deux, JF, Hankiewicz, K, Dogan, C, Minier, L, Chevalier, P, Hamadouche, A, Catt, M, Van Hees, V, Catt, S, Schwalber, A, and Dittrich, J
Abstract: The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A recent Huntington's disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3/DHFR, as the variant most significantly associated with progression in Huntington's disease. Using Illumina sequencing in Huntington's disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG·CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington's disease and myotonic dystrophy type 1, and slower progression (P = 3.86 × 10-7) in Huntington's disease. RNA-Seq of whole blood in the Huntington's disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington's disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington's disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.
Published: 2019

7. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Author: Moss, Davina J Hensman, primary, Pardiñas, Antonio F, additional, Langbehn, Douglas, additional, Lo, Kitty, additional, Leavitt, Blair R, additional, Roos, Raymund, additional, Durr, Alexandra, additional, Mead, Simon, additional, Holmans, Peter, additional, Jones, Lesley, additional, Tabrizi, Sarah J, additional, Coleman, A, additional, Santos, R Dar, additional, Decolongon, J, additional, Sturrock, A, additional, Bardinet, E, additional, Ret, C Jauff, additional, Justo, D, additional, Lehericy, S, additional, Marelli, C, additional, Nigaud, K, additional, Valabrègue, R, additional, van den Bogaard, SJA, additional, Dumas, E M, additional, van der Grond, J, additional, t'Hart, EP, additional, Jurgens, C, additional, Witjes-Ane, M-N, additional, Arran, N, additional, Callaghan, J, additional, Stopford, C, additional, Frost, C, additional, Jones, R, additional, Hobbs, N, additional, Lahiri, N, additional, Ordidge, R, additional, Owen, G, additional, Pepple, T, additional, Read, J, additional, Say, M, additional, Wild, E, additional, Patel, A, additional, Fox, N C, additional, Gibbard, C, additional, Malone, I, additional, Crawford, H, additional, Whitehead, D, additional, Keenan, S, additional, Cash, D M, additional, Berna, C, additional, Bechtel, N, additional, Bohlen, S, additional, Man, A Hoff, additional, Kraus, P, additional, Axelson, E, additional, Wang, C, additional, Acharya, T, additional, Lee, S, additional, Monaco, W, additional, Campbell, C, additional, Queller, S, additional, Whitlock, K, additional, Campbell, M, additional, Frajman, E, additional, Milchman, C, additional, O'Regan, A, additional, Labuschagne, I, additional, Stout, J, additional, Landwehrmeyer, B, additional, Craufurd, D, additional, Scahill, R, additional, Hicks, S, additional, Kennard, C, additional, Johnson, H, additional, Tobin, A, additional, Rosas, HD, additional, Reilmann, R, additional, Borowsky, B, additional, Pourchot, C, additional, Andrews, S C, additional, Bachoud-Lévi, Anne-Catherine, additional, Bentivoglio, Anna Rita, additional, Biunno, Ida, additional, Bonelli, Raphael, additional, Burgunder, Jean-Marc, additional, Dunnett, Stephen, additional, Ferreira, Joaquim, additional, Handley, Olivia, additional, Heiberg, Arvid, additional, Illmann, Torsten, additional, Landwehrmeyer, G. Bernhard, additional, Levey, Jamie, additional, Ramos-Arroyo, Maria A., additional, Nielsen, Jørgen, additional, Koivisto, Susana Pro, additional, Päivärinta, Markku, additional, Roos, Raymund A.C., additional, Sebastián, A Rojo, additional, Tabrizi, Sarah, additional, Vandenberghe, Wim, additional, Verellen-Dumoulin, Christine, additional, Uhrova, Tereza, additional, Wahlström, Jan, additional, Zaremba, Jacek, additional, Baake, Verena, additional, Barth, Katrin, additional, Garde, Monica Bascuñana, additional, Betz, Sabrina, additional, Bos, Reineke, additional, Callaghan, Jenny, additional, Come, Adrien, additional, Guedes, Leonor Correia, additional, Ecker, Daniel, additional, Finisterra, Ana Maria, additional, Fullam, Ruth, additional, Gilling, Mette, additional, Gustafsson, Lena, additional, Handley, Olivia J, additional, Hvalstedt, Carina, additional, Held, Christine, additional, Koppers, Kerstin, additional, Lamanna, Claudia, additional, Laurà, Matilde, additional, Descals, Asunción Martínez, additional, Martinez-Horta, Saül, additional, Mestre, Tiago, additional, Minster, Sara, additional, Monza, Daniela, additional, Mütze, Lisanne, additional, Oehmen, Martin, additional, Orth, Michael, additional, Padieu, Hélène, additional, Paterski, Laurent, additional, Peppa, Nadia, additional, Di Renzo, Martina, additional, Rialland, Amandine, additional, Røren, Niini, additional, Šašinková, Pavla, additional, Timewell, Erika, additional, Townhill, Jenny, additional, Cubillo, Patricia Trigo, additional, da Silva, Wildson Vieira, additional, van Walsem, Marleen R, additional, Whalstedt, Carina, additional, Witjes-Ané, Marie-Noelle, additional, Witkowski, Grzegorz, additional, Wright, Abigail, additional, Zielonka, Daniel, additional, Zielonka, Eugeniusz, additional, Zinzi, Paola, additional, Bonelli, Raphael M., additional, Lilek, Sabine, additional, Hecht, Karen, additional, Herranhof, Brigitte, additional, Holl, Anna, additional, Kapfhammer, Hans-Peter, additional, Koppitz, Michael, additional, Magnet, Markus, additional, Müller, Nicole, additional, Otti, Daniela, additional, Painold, Annamaria, additional, Reisinger, Karin, additional, Scheibl, Monika, additional, Schöggl, Helmut, additional, Ullah, Jasmin, additional, Braunwarth, Eva-Maria, additional, Brugger, Florian, additional, Buratti, Lisa, additional, Hametner, Eva-Maria, additional, Hepperger, Caroline, additional, Holas, Christiane, additional, Hotter, Anna, additional, Hussl, Anna, additional, Müller, Christoph, additional, Poewe, Werner, additional, Seppi, Klaus, additional, Sprenger, Fabienne, additional, Wenning, Gregor, additional, Boogaerts, Andrea, additional, Calmeyn, Godelinde, additional, Delvaux, Isabelle, additional, Liessens, Dirk, additional, Somers, Nele, additional, Dupuit, Michel, additional, Minet, Cécile, additional, van Paemel, Dominique, additional, Ribaï, Pascale, additional, van Reijen, Dimphna, additional, Klempír, Jirí, additional, Majerová, Veronika, additional, Roth, Jan, additional, Stárková, Irena, additional, Hjermind, Lena E., additional, Jacobsen, Oda, additional, Nielsen, Jørgen E., additional, Larsen, Ida Unmack, additional, Vinther-Jensen, Tua, additional, Hiivola, Heli, additional, Hyppönen, Hannele, additional, Martikainen, Kirsti, additional, Tuuha, Katri, additional, Allain, Philippe, additional, Bonneau, Dominique, additional, Bost, Marie, additional, Gohier, Bénédicte, additional, Guérid, Marie-Anne, additional, Olivier, Audrey, additional, Prundean, Adriana, additional, Scherer-Gagou, Clarisse, additional, Verny, Christophe, additional, Babiloni, Blandine, additional, Debruxelles, Sabrina, additional, Duché, Charlotte, additional, Goizet, Cyril, additional, Jameau, Laetitia, additional, Lafoucrière, Danielle, additional, Spampinato, Umberto, additional, Barthélémy, Rekha, additional, De Bruycker, Christelle, additional, Carette, Maryline Cabaret Anne-Sophie, additional, Defebvre, Eric Decorte Luc, additional, Delliaux, Marie, additional, Delval, Arnaud, additional, Destee, Alain, additional, Dujardin, Kathy, additional, Lemaire, Marie-Hélène, additional, Manouvrier, Sylvie, additional, Peter, Mireille, additional, Plomhouse, Lucie, additional, Sablonnière, Bernard, additional, Simonin, Clémence, additional, Thibault-Tanchou, Stéphanie, additional, Vuillaume, Isabelle, additional, Bellonet, Marcellin, additional, Berrissoul, Hassan, additional, Blin, Stéphanie, additional, Courtin, Françoise, additional, Duru, Cécile, additional, Fasquel, Véronique, additional, Godefroy, Olivier, additional, Krystkowiak, Pierre, additional, Mantaux, Béatrice, additional, Roussel, Martine, additional, Wannepain, Sandrine, additional, Azulay, Jean-Philippe, additional, Delfini, Marie, additional, Eusebio, Alexandre, additional, Fluchere, Frédérique, additional, Mundler, Laura, additional, Anheim, Mathieu, additional, Julié, Celine, additional, Boukbiza, Ouhaid Lagha, additional, Longato, Nadine, additional, Rudolf, Gabrielle, additional, Tranchant, Christine, additional, Zimmermann, Marie-Agathe, additional, Kosinski, Christoph Michael, additional, Milkereit, Eva, additional, Probst, Daniela, additional, Reetz, Kathrin, additional, Sass, Christian, additional, Schiefer, Johannes, additional, Schlangen, Christiane, additional, Werner, Cornelius J., additional, Gelderblom, Harald, additional, Priller, Josef, additional, Prüß, Harald, additional, Spruth, Eike Jakob, additional, Ellrichmann, Gisa, additional, Herrmann, Lennard, additional, Hoffmann, Rainer, additional, Kaminski, Barbara, additional, Kotz, Peter, additional, Prehn, Christian, additional, Saft, Carsten, additional, Lange, Herwig, additional, Maiwald, Robert, additional, Löhle, Matthias, additional, Maass, Antonia, additional, Schmidt, Simone, additional, Bosredon, Cecile, additional, Storch, Alexander, additional, Wolz, Annett, additional, Wolz, Martin, additional, Capetian, Philipp, additional, Lambeck, Johann, additional, Zucker, Birgit, additional, Boelmans, Kai, additional, Ganos, Christos, additional, Heinicke, Walburgis, additional, Hidding, Ute, additional, Lewerenz, Jan, additional, Münchau, Alexander, additional, Schmalfeld, Jenny, additional, Stubbe, Lars, additional, Zittel, Simone, additional, Diercks, Gabriele, additional, Dressler, Dirk, additional, Gorzolla, Heike, additional, Schrader, Christoph, additional, Tacik, Pawel, additional, Ribbat, Michael, additional, Longinus, Bernhard, additional, Bürk, Katrin, additional, Möller, Jens Carsten, additional, Rissling, Ida, additional, Mühlau, Mark, additional, Peinemann, Alexander, additional, Städtler, Michael, additional, Weindl, Adolf, additional, Winkelmann, Juliane, additional, Ziegler, Cornelia, additional, Bechtel, Natalie, additional, Beckmann, Heike, additional, Bohlen, Stefan, additional, Hölzner, Eva, additional, Reilmann, Ralf, additional, Rohm, Stefanie, additional, Rumpf, Silke, additional, Schepers, Sigrun, additional, Weber, Natalia, additional, Dose, Matthias, additional, Leythäuser, Gabriele, additional, Marquard, Ralf, additional, Raab, Tina, additional, Wiedemann, Alexandra, additional, Buck, Andrea, additional, Connemann, Julia, additional, Geitner, Carolin, additional, Kesse, Andrea, additional, Landwehrmeyer, Bernhard, additional, Lang, Christina, additional, Lezius, Franziska, additional, Nepper, Solveig, additional, Niess, Anke, additional, Schneider, Ariane, additional, Schwenk, Daniela, additional, Süßmuth, Sigurd, additional, Trautmann, Sonja, additional, Weydt, Patrick, additional, Cormio, Claudia, additional, Sciruicchio, Vittorio, additional, Serpino, Claudia, additional, de Tommaso, Marina, additional, Capellari, Sabina, additional, Cortelli, Pietro, additional, Galassi, Roberto, additional, Rizzo, Giovanni, additional, Poda, Roberto, additional, Scaglione, Cesa, additional, Bertini, Elisabetta, additional, Ghelli, Elena, additional, Ginestroni, Andrea, additional, Massaro, Francesca, additional, Mechi, Claudia, additional, Paganini, Marco, additional, Piacentini, Silvia, additional, Pradella, Silvia, additional, Romoli, Anna Maria, additional, Sorbi, Sandro, additional, Abbruzzese, Giovanni, additional, di Poggio, Monica Bandettini, additional, Ferrandes, Giovanna, additional, Mandich, Paola, additional, Marchese, Roberta, additional, Albanese, Alberto, additional, Di Bella, Daniela, additional, Castaldo, Anna, additional, Di Donato, Stefano, additional, Gellera, Cinzia, additional, Genitrini, Silvia, additional, Mariotti, Caterina, additional, Nanetti, Lorenzo, additional, Paridi, Dominga, additional, Soliveri, Paola, additional, Tomasello, Chiara, additional, De Michele, Giuseppe, additional, Di Maio, Luigi, additional, Massarelli, Marco, additional, Peluso, Silvio, additional, Roca, Alessandro, additional, Russo, Cinzia Valeria, additional, Salvatore, Elena, additional, Sorrentino, Pierpaolo, additional, Amico, Enrico, additional, Favellato, Mariagrazia, additional, Griguoli, Annamaria, additional, Mazzante, Irene, additional, Petrollini, Martina, additional, Squitieri, Ferdinando, additional, D'Alessio, Barbara, additional, Esposito, Chiara, additional, Bentivoglio, Rita, additional, Frontali, Marina, additional, Guidubaldi, Arianna, additional, Ialongo, Tamara, additional, Jacopini, Gioia, additional, Piano, Carla, additional, Romano, Silvia, additional, Soleti, Francesco, additional, Spadaro, Maria, additional, van Hout, Monique S.E., additional, Verhoeven, Marloes E., additional, van Vugt, Jeroen P.P., additional, de Weert, A. Marit, additional, Bolwijn, J.J.W., additional, Dekker, M., additional, Kremer, B., additional, Leenders, K.L., additional, van Oostrom, J.C.H., additional, van den Bogaard, Simon J.A., additional, Dumas, Eve M., additional, 't Hart, Ellen P., additional, Kremer, Berry, additional, Verstappen, C.C.P., additional, Aaserud, Olaf, additional, C, Jan Frich, additional, Wehus, Ragnhild, additional, Bjørgo, Kathrine, additional, Fannemel, Madeleine, additional, Gørvell, Per F., additional, Lorentzen, Eirin, additional, Retterstøl, Lars, additional, Stokke, Bodil, additional, Bjørnevoll, Inga, additional, Sando, Sigrid Botne, additional, Dziadkiewicz, Artur, additional, Nowak, Malgorzata, additional, Robowski, Piotr, additional, Sitek, Emilia, additional, Slawek, Jaroslaw, additional, Soltan, Witold, additional, Szinwelski, Michal, additional, Blaszcyk, Magdalena, additional, Boczarska-Jedynak, Magdalena, additional, Ciach-Wysocka, Ewelina, additional, Gorzkowska, Agnieszka, additional, Jasinska-Myga, Barbara, additional, Klodowska-Duda, Gabriela, additional, Opala, Gregorz, additional, Stompel, Daniel, additional, Banaszkiewicz, Krzysztof, additional, Bocwinska, Dorota, additional, Bojakowska-Jaremek, Kamila, additional, Dec, Malgorzata, additional, Krawczyk, Malgorzata, additional, Rudzinska, Monika, additional, Szczygiel, Elzbieta, additional, Szczudlik, Andrzej, additional, Wasielewska, Anna, additional, Wójcik, Magdalena, additional, Bryl, Anna, additional, Ciesielska, Anna, additional, Klimberg, Aneta, additional, Marcinkowski, Jerzy, additional, Samara, Husam, additional, Sempolowicz, Justyna, additional, Gogol, Anna, additional, Janik, Piotr, additional, Kwiecinski, Hubert, additional, Jamrozik, Zygmunt, additional, Antczak, Jakub, additional, Jachinska, Katarzyna, additional, Krysa, Wioletta, additional, Rakowicz, Maryla, additional, Richter, Przemyslaw, additional, Rola, Rafal, additional, Ryglewicz, Danuta, additional, Sienkiewicz-Jarosz, Halina, additional, Stepniak, Iwona, additional, Sulek, Anna, additional, Zdzienicka, Elzbieta, additional, Zieora-Jakutowicz, Karolina, additional, Ferreira, Joaquim J, additional, Coelho, Miguel, additional, Mendes, Tiago, additional, Valadas, Anabela, additional, Andrade, Carlos, additional, Gago, Miguel, additional, Garrett, Carolina, additional, Guerra, Maria Rosália, additional, Herrera, Carmen Durán, additional, Garcia, Patrocinio Moreno, additional, Barbera, Miquel Aguilar, additional, Guia, Dolors Badenes, additional, Hernanz, Laura Casas, additional, Catena, Judit López, additional, Ferrer, Pilar Quiléz, additional, Sebastián, Ana Rojo, additional, Carruesco, Gemma Tome, additional, Bas, Jordi, additional, Busquets, Núria, additional, Calopa, Matilde, additional, Robert, Misericordia Floriach, additional, Viladrich, Celia Mareca, additional, Idiago, Jesús Miguel Ruiz, additional, Riballo, Antonio Villa, additional, Cubo, Esther, additional, Polo, Cecilia Gil, additional, Mariscal, Natividad, additional, Rivadeneyra, Perez Jessica, additional, Barrero, Francisco, additional, Morales, Blas, additional, Fenollar, María, additional, García, Rocío García-Ramos, additional, Ortega, Paloma, additional, Villanueva, Clara, additional, Alegre, Javier, additional, Bascuñana, Mónica, additional, Caldentey, Juan Garcia, additional, Ventura, Marta Fatás, additional, Ribas, Guillermo García, additional, de Yébenes, Justo García, additional, Moreno, José Luis López-Sendón, additional, Frech, Fernando Alonso, additional, Ruíz, Pedro J García, additional, Martínez-Descals, Asunción, additional, Guerrero, Rosa, additional, Artiga, María José Saiz, additional, Sánchez, Vicenta, additional, Perea, María Fuensanta Noguera, additional, Fortuna, Lorenza, additional, Manzanares, Salvadora, additional, Reinante, Gema, additional, Torres, María Martirio Antequera, additional, Moreau, Laura Vivancos, additional, González González, Sonia, additional, Guisasola, Luis Menéndez, additional, Salvador, Carlos, additional, Martín, Esther Suaréz San, additional, Ramirez, Inés Legarda, additional, Gorospe, Aranzazú, additional, Lopera, Mónica Rodriguez, additional, Arques, Penelope Navas, additional, Rodríguez, María José Torres, additional, Pastor, Barbara Vives, additional, Gaston, Itziar, additional, Martinez-Jaurrieta, Maria Dolores, additional, Moreno, Jose Manuel Garcia, additional, Lucena, Carolina Mendez, additional, Damas, Fatima, additional, Cortegana, Hermoso Eva Pacheco, additional, Peña, José Chacón, additional, Redondo, Luis, additional, Carrillo, Fátima, additional, Teresa Cáceres, María, additional, Mir, Pablo, additional, Suarez, María José Lama, additional, Vargas-González, Laura, additional, Bosca, Maria E., additional, Brugada, Francisco Castera, additional, Burguera, Juan Andres, additional, Campos, Anabel, additional, Vilaplana, Garcia Carmen Peiró, additional, Berglund, Peter, additional, Constantinescu, Radu, additional, Fredlund, Gunnel, additional, Høsterey-Ugander, Ulrika, additional, Linnsand, Petra, additional, Neleborn-Lingefjärd, Liselotte, additional, Wentzel, Magnus, additional, Loutfi, Ghada, additional, Olofsson, Carina, additional, Stattin, Eva-Lena, additional, Westman, Laila, additional, Wikström, Birgitta, additional, Stebler, Yanik, additional, Kaelin, Alain, additional, Romero, Irene, additional, Schüpbach, Michael, additional, Weber Zaugg, Sabine, additional, Hauer, Maria, additional, Gonzenbach, Roman, additional, Jung, Hans H., additional, Mihaylova, Violeta, additional, Petersen, Jens, additional, Jack, Roisin, additional, Matheson, Kirsty, additional, Miedzybrodzka, Zosia, additional, Rae, Daniela, additional, Simpson, Sheila A, additional, Summers, Fiona, additional, Ure, Alexandra, additional, Vaughan, Vivien, additional, Akhtar, Shahbana, additional, Crooks, Jenny, additional, Curtis, Adrienne, additional, de Souza, Jenny, additional, Piedad, John, additional, Rickards, Hugh, additional, Wright, Jan, additional, Coulthard, Elizabeth, additional, Gethin, Louise, additional, Hayward, Beverley, additional, Sieradzan, Kasia, additional, Armstrong, Matthew, additional, Barker, Roger A., additional, O'Keefe, Deidre, additional, Di Pietro, Anna, additional, Fisher, Kate, additional, Goodman, Anna, additional, Hill, Susan, additional, Kershaw, Ann, additional, Mason, Sarah, additional, Paterson, Nicole, additional, Raymond, Lucy, additional, Swain, Rachel, additional, Guzman, Natalie Valle, additional, Busse, Monica, additional, Butcher, Cynthia, additional, Clenaghan, Catherine, additional, Hunt, Sarah, additional, Jones, Una, additional, Khalil, Hanan, additional, Owen, Michael, additional, Price, Kathleen, additional, Rosser, Anne, additional, Edwards, Maureen, additional, Ho, Carrie, additional, Hughes, Teresa, additional, McGill, Marie, additional, Pearson, Pauline, additional, Porteous, Mary, additional, Smith, Paul, additional, Brockie, Peter, additional, Foster, Jillian, additional, Johns, Nicola, additional, McKenzie, Sue, additional, Rothery, Jean, additional, Thomas, Gareth, additional, Yates, Shona, additional, Burrows, Liz, additional, Chu, Carol, additional, Fletcher, Amy, additional, Gallantrae, Deena, additional, Hamer, Stephanie, additional, Harding, Alison, additional, Klöppel, Stefan, additional, Kraus, Alison, additional, Laver, Fiona, additional, Lewis, Monica, additional, Longthorpe, Mandy, additional, Markova, Ivana, additional, Raman, Ashok, additional, Robertson, Nicola, additional, Silva, Mark, additional, Thomson, Aileen, additional, Wild, Sue, additional, Yardumian, Pam, additional, Evans, Carole, additional, Gallentrae, Deena, additional, Hobson, Emma, additional, Jamieson, Stuart, additional, Musgrave, Hannah, additional, Rowett, Liz, additional, Toscano, Jean, additional, Bourne, Colin, additional, Clapton, Jackie, additional, Clayton, Carole, additional, Dipple, Heather, additional, Freire-Patino, Dawn, additional, Grant, Janet, additional, Gross, Diana, additional, Hallam, Caroline, additional, Middleton, Julia, additional, Murch, Ann, additional, Thompson, Catherine, additional, Alusi, Sundus, additional, Davies, Rhys, additional, Foy, Kevin, additional, Gerrans, Emily, additional, Pate, Louise, additional, Andrews, Thomasin, additional, Dougherty, Andrew, additional, Golding, Charlotte, additional, Kavalier, Fred, additional, Laing, Hana, additional, Lashwood, Alison, additional, Robertson, Dene, additional, Ruddy, Deborah, additional, Santhouse, Alastair, additional, Whaite, Anna, additional, Bruno, Stefania, additional, Doherty, Karen, additional, Haider, Salman, additional, Hensman, Davina, additional, Lahiri, Nayana, additional, Novak, Marianne, additional, Patel, Aakta, additional, Rosser, Elisabeth, additional, Taylor, Rachel, additional, Warner, Thomas, additional, Wild, Edward, additional, Arran, Natalie, additional, Bek, Judith, additional, Craufurd, David, additional, Hare, Marianne, additional, Howard, Liz, additional, Huson, Susan, additional, Johnson, Liz, additional, Jones, Mary, additional, Murphy, Helen, additional, Oughton, Emma, additional, Partington-Jones, Lucy, additional, Rogers, Dawn, additional, Sollom, Andrea, additional, Snowden, Julie, additional, Stopford, Cheryl, additional, Thompson, Jennifer, additional, Trender-Gerhard, Iris, additional, Verstraelen, Nichola, additional, Westmoreland, Leann, additional, Armstrong, Richard, additional, Dixon, Kathryn, additional, Nemeth, Andrea H, additional, Siuda, Gill, additional, Valentine, Ruth, additional, Harrison, David, additional, Hughes, Max, additional, Parkinson, Andrew, additional, Soltysiak, Beverley, additional, Bandmann, Oliver, additional, Bradbury, Alyson, additional, Gill, Paul, additional, Fairtlough, Helen, additional, Fillingham, Kay, additional, Foustanos, Isabella, additional, Kazoka, Mbombe, additional, O'Donovan, Kirsty, additional, Taylor, Cat, additional, Tidswell, Katherine, additional, Quarrell, Oliver, additional, Lau, Puay Ngoh, additional, Pica, Emmanul, additional, and Tan, Louis, additional
Published: 2017
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8. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Author: Moss, Davina J Hensman, Tabrizi, Sarah J, Mead, Simon, Lo, Kitty, Pardiñas, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, Coleman, A., Santos, R Dar, Decolongon, J., Sturrock, A., Bardinet, E., Ret, C Jauff, Justo, D., Lehericy, S., Marelli, C., Nigaud, K., Valabrègue, R., van den Bogaard, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., Jurgens, C., Witjes-Ane, M. -N., Arran, N., Callaghan, J., Stopford, C., Frost, C., Jones, R., Hobbs, N., Lahiri, N., Ordidge, R., Owen, G., Pepple, T., Read, J., Say, M., Wild, E., Patel, A., Fox, N. C., Gibbard, C., Malone, I., Crawford, H., Whitehead, D., Keenan, S., Cash, D. M., Berna, C., Bechtel, N., Bohlen, S., Man, A Hoff, Kraus, P., Axelson, E., Wang, C., Acharya, T., Lee, S., Monaco, W., Campbell, C., Queller, S., Whitlock, K., Campbell, M., Frajman, E., Milchman, C., O'Regan, A., Labuschagne, I., Stout, J., Landwehrmeyer, B., Craufurd, D., Scahill, R., Hicks, S., Kennard, C., Johnson, H., Tobin, A., Rosas, H. D., Reilmann, R., Borowsky, B., Pourchot, C., Andrews, S. C., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A. C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Marku, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthia, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S. E., Verhoeven, Marloes E., van Vugt, Jeroen P. P., de Weert, A. Marit, Bolwijn, J. J. W., Dekker, M., Kremer, B., Leenders, K. L., van Oostrom, J. C. H., van den Bogaard, Simon J. A., Dumas, Eve M., ’t Hart, Ellen P., Kremer, Berry, Verstappen, C. C. P., Aaserud, Olaf, Jan Frich, C., Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lar, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Bla, Fenollar, María, García, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodríguez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Lui, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jen, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, Mcgill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Albanese, Alberto (ORCID:0000-0002-5864-0006), Moss, Davina J Hensman, Tabrizi, Sarah J, Mead, Simon, Lo, Kitty, Pardiñas, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, Coleman, A., Santos, R Dar, Decolongon, J., Sturrock, A., Bardinet, E., Ret, C Jauff, Justo, D., Lehericy, S., Marelli, C., Nigaud, K., Valabrègue, R., van den Bogaard, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., Jurgens, C., Witjes-Ane, M. -N., Arran, N., Callaghan, J., Stopford, C., Frost, C., Jones, R., Hobbs, N., Lahiri, N., Ordidge, R., Owen, G., Pepple, T., Read, J., Say, M., Wild, E., Patel, A., Fox, N. C., Gibbard, C., Malone, I., Crawford, H., Whitehead, D., Keenan, S., Cash, D. M., Berna, C., Bechtel, N., Bohlen, S., Man, A Hoff, Kraus, P., Axelson, E., Wang, C., Acharya, T., Lee, S., Monaco, W., Campbell, C., Queller, S., Whitlock, K., Campbell, M., Frajman, E., Milchman, C., O'Regan, A., Labuschagne, I., Stout, J., Landwehrmeyer, B., Craufurd, D., Scahill, R., Hicks, S., Kennard, C., Johnson, H., Tobin, A., Rosas, H. D., Reilmann, R., Borowsky, B., Pourchot, C., Andrews, S. C., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A. C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Marku, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthia, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S. E., Verhoeven, Marloes E., van Vugt, Jeroen P. P., de Weert, A. Marit, Bolwijn, J. J. W., Dekker, M., Kremer, B., Leenders, K. L., van Oostrom, J. C. H., van den Bogaard, Simon J. A., Dumas, Eve M., ’t Hart, Ellen P., Kremer, Berry, Verstappen, C. C. P., Aaserud, Olaf, Jan Frich, C., Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lar, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Bla, Fenollar, María, García, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodríguez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Lui, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jen, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, Mcgill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), and Albanese, Alberto (ORCID:0000-0002-5864-0006)
Abstract: Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008â11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003â13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0Â·674), and with age at onset (TRACK-HD, r=0Â·315; REGISTRY, r=0Â·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1Â·12 Ã 10â10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2Â·94 Ã 10â8DHFR p=8Â·37 Ã 10â7MTRNR2L2 p=2Â·15 Ã 10â9) and to a lesser extent in REGISTRY (MSH3 p=9Â·36 Ã 10â4DHFR p=8Â·45 Ã 10â4MTRNR2L2 p=1Â·20 Ã 10â3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs55787
Published: 2017

9. Short-interval observational data to inform clinical trial design in Huntington's disease

Author: Hobbs, N. Z., primary, Farmer, R. E., additional, Rees, E. M., additional, Cole, J. H., additional, Haider, S., additional, Malone, I. B., additional, Sprengelmeyer, R., additional, Johnson, H., additional, Mueller, H.-P., additional, Sussmuth, S. D., additional, Roos, R. A. C., additional, Durr, A., additional, Frost, C., additional, Scahill, R. I., additional, Landwehrmeyer, B., additional, and Tabrizi, S. J., additional
Published: 2015
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10. E05 6-,9- And 15-Month Change in Cortical Thickness and Region-Of-Interest Volume And Diffusion Metrics in Huntington's Disease: Informing Trial Design

Author: Hobbs, N., primary, Farmer, R., additional, Rees, E., additional, Cole, J., additional, Haider, S., additional, Malone, I., additional, Sprengelmeyer, R., additional, Johnson, H., additional, Mueller, H., additional, Sussmuth, S., additional, Roos, R., additional, Durr, A., additional, Frost, C., additional, Scahill, R., additional, Landwehrmeyer, G., additional, and Tabrizi, S., additional
Published: 2014
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11. 06 Early subcortical amyloid deposition in familial Alzheimer's disease is accompanied by changes in tissue volume and diffusivity

Author: Ryan, N. S., primary, Okello, A., additional, Knight, W. D., additional, Lehmann, M., additional, Malone, I., additional, Ridgway, G. R., additional, Ourselin, S., additional, Brooks, D. J., additional, Rossor, M. N., additional, and Fox, N. C., additional
Published: 2011
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12. 05 White matter tract changes in the primary progressive aphasias

Author: Mahoney, C. J., primary, Malone, I., additional, Buckley, A., additional, Rosser, M. N., additional, Fox, N. C., additional, and Warren, J. D., additional
Published: 2011
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13. P.2.037 Reducing long term physical health risks associated with severe mental illness through a weight management programme: 3 year results

Author: Pendlebury, I., primary, Malone, I., additional, Soni, S.D., additional, Haddad, P.M., additional, and Dursun, S., additional
Published: 2004
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14. Spectral History: The Ghost Stories of Dorothy Macardle

Author: Malone, Irina Ruppo
Published: 2011
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15. I02 Automated longitudinal measures of global and regional brain volume change in premanifest and early Huntington's disease.

Author: Gibbard, C, Scahill, R I, Malone, I, Dürr, A, Leavitt, B R, Roos, R A C, Tabrizi, S J, and Hobbs, N
Abstract: Background TRACK-HD is an international multi-site study of premanifest and early Huntington's disease (HD) which aims to investigate a range of biomarkers for use in future therapeutic trials. Detecting subtle brain changes in slowly progressive heterogeneous diseases such as HD is a challenge. Manual techniques, the current ‘gold standard’, are time consuming, reliant on the rater skill and impractical for large scale use. Linear registration of serial MRI has successfully been used to detect whole brain and caudate atrophy in HD using the boundary shift integral (BSI). However, it is less robust when applied to structures without brain–CSF boundaries. Non-linear (fluid) registration allows assessment of within subject change across the entire brain so may be applicable to a wider array of structures, thus providing more regionally specific information. Aims To develop and apply a fully automated technique sensitive to 1 year global and regional volumetric changes in premanifest and early HD subjects using fluid registration of serial MRI. Methods/techniques T1 weighted 3T MR images were acquired at baseline and 1 year from 303 subjects (97 controls; 110 premanifest; 96 early HD) in the TRACK-HD study. Regions of interest (ROI) were generated on the baseline scans using the automated FSL software. Fluid registration was used to model within subject voxel level change over the scanning interval and the 1 year volume change was quantified by summing voxel change within each ROI. Results/outcome Preliminary fluid derived results (whole brain and caudate) show good group discrimination, consistent with BSI findings. We will present fluid derived regional and global atrophy rates, group differences and a comparison of our data with BSI results where appropriate. Conclusions We describe a technique which has the potential to provide fully automated global and regional measures of atrophy using multi site data. This may have utility as an outcome measure for future therapeutic trials in HD. [ABSTRACT FROM PUBLISHER]
Published: 2010
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16. The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition.

Author: James SN, Sudre CH, Barnes J, Cash DM, Chiou YJ, Coath W, Keshavan A, Lu K, Malone I, Murray-Smith H, Nicholas JM, Orini M, Parker T, Almeida-Meza P, Fox NC, Richards M, and Schott JM
Abstract: We assessed the association between leisure time physical activity patterns across 30 years of adulthood with a range of in vivo Alzheimer's disease-related neurodegenerative markers and cognition, and their interplay, at age 70. Participants from the 1946 British birth cohort study prospectively reported leisure time physical activity five times between ages 36 and 69 and were dichotomized into (i) not active (no participation/month) and (ii) active (participated once or more/month) and further derived into: (0) never active (not active); (1) active before 50's only (≤43 years); (2) active from 50's onwards only (≥53 years); (3) always active (active throughout). Participants underwent 18F-florbetapir Aβ and magnetic resonance imaging at age 70. Regression analyses were conducted to assess the direct and the moderating relationship between leisure time physical activity metrics, Alzheimer's disease-related neurodegeneration markers (including Aβ status, hippocampal and whole-brain volume, and cortical thickness in Alzheimer's disease signature regions) and cognition. All models were adjusted for childhood cognition, education and childhood socioeconomic position, and examined by sex. Findings drawn from 468 participants (49% female) demonstrated a direct association between being active before 50 years old (≤43 years) and throughout life (up to age 69 years), with larger hippocampal volume at age 70 ( P < 0.05). There was little evidence that leisure time physical activity had direct effects on other brain health measures (all P > 0.05). However, leisure time physical activity patterns modified and attenuated the association between poorer cognitive functioning at age 70 and a range of Alzheimer's disease-related neurodegenerative markers (Aβ status; hippocampal and whole-brain volume; cortical thickness in Alzheimer's disease regions) (all P < 0.05). We found suggestive evidence that women with early markers of Alzheimer's disease-related neurodegeneration were most sensitive to leisure time physical activity patterns: a lifetime of inactivity in women exacerbated the manifestation of early Alzheimer's disease markers (Aβ and cortical thickness-related cognition), yet, if women were active across life or early in life, it mostly buffered these negative relationships. Engagement in leisure time physical activity in the life course is associated with better cognitive functioning at age 70, even in those with early markers of Alzheimer's disease. If causal, this is likely via multiple pathways, potentially through the preservation of hippocampal volume, as well as via cognitive resilience pathways delaying cognitive manifestations of early markers of Alzheimer's disease, particularly in women. Our findings warrant further research to shed light on the mechanisms of physical activity as a potential disease-modifying intervention of brain health and cognitive resilience., Competing Interests: N.C.F. has received research funding from Eisai, Elan, Eli Lilly, GE, IXICO, Janssen, Lundbeck, Pfizer, Roche Sanofi-Aventis and Wyeth. N.C.F. has served on a Data Safety Monitoring Committee for Biogen. J.M.S. has received research funding from Avid Radiopharmaceuticals (a wholly owned subsidiary of Eli Lilly), has consulted for Roche Pharmaceuticals, Biogen and Eli Lilly, given educational lectures sponsored by GE, Eli Lilly and Biogen, and serves on a Data Safety Monitoring Committee for Axon Neuroscience SE. All other authors declare no competing interests., (© The Author(s) 2025. Published by Oxford University Press on behalf of the Guarantors of Brain.)
Published: 2025
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17. Neuroimaging, clinical and life course correlates of normal-appearing white matter integrity in 70-year-olds.

Author: James SN, Manning EN, Storey M, Nicholas JM, Coath W, Keuss SE, Cash DM, Lane CA, Parker T, Keshavan A, Buchanan SM, Wagen A, Harris M, Malone I, Lu K, Needham LP, Street R, Thomas D, Dickson J, Murray-Smith H, Wong A, Freiberger T, Crutch SJ, Fox NC, Richards M, Barkhof F, Sudre CH, Barnes J, and Schott JM
Abstract: We investigate associations between normal-appearing white matter microstructural integrity in cognitively normal ∼70-year-olds and concurrently measured brain health and cognition, demographics, genetics and life course cardiovascular health. Participants born in the same week in March 1946 (British 1946 birth cohort) underwent PET-MRI around age 70. Mean standardized normal-appearing white matter integrity metrics (fractional anisotropy, mean diffusivity, neurite density index and orientation dispersion index) were derived from diffusion MRI. Linear regression was used to test associations between normal-appearing white matter metrics and (i) concurrent measures, including whole brain volume, white matter hyperintensity volume, PET amyloid and cognition; (ii) the influence of demographic and genetic predictors, including sex, childhood cognition, education, socio-economic position and genetic risk for Alzheimer's disease ( APOE-ɛ4 ); (iii) systolic and diastolic blood pressure and cardiovascular health (Framingham Heart Study Cardiovascular Risk Score) across adulthood. Sex interactions were tested. Statistical significance included false discovery rate correction (5%). Three hundred and sixty-two participants met inclusion criteria (mean age 70, 49% female). Higher white matter hyperintensity volume was associated with lower fractional anisotropy [ b = -0.09 (95% confidence interval: -0.11, -0.06), P < 0.01], neurite density index [ b = -0.17 (-0.22, -0.12), P < 0.01] and higher mean diffusivity [ b = 0.14 (-0.10, -0.17), P < 0.01]; amyloid (in men) was associated with lower fractional anisotropy [ b = -0.04 (-0.08, -0.01), P = 0.03)] and higher mean diffusivity [ b = 0.06 (0.01, 0.11), P = 0.02]. Framingham Heart Study Cardiovascular Risk Score in later-life (age 69) was associated with normal-appearing white matter {lower fractional anisotropy [ b = -0.06 (-0.09, -0.02) P < 0.01], neurite density index [ b = -0.10 (-0.17, -0.03), P < 0.01] and higher mean diffusivity [ b = 0.09 (0.04, 0.14), P < 0.01]}. Significant sex interactions ( P < 0.05) emerged for midlife cardiovascular health (age 53) and normal-appearing white matter at 70: marginal effect plots demonstrated, in women only, normal-appearing white matter was associated with higher midlife Framingham Heart Study Cardiovascular Risk Score (lower fractional anisotropy and neurite density index), midlife systolic (lower fractional anisotropy, neurite density index and higher mean diffusivity) and diastolic (lower fractional anisotropy and neurite density index) blood pressure and greater blood pressure change between 43 and 53 years (lower fractional anisotropy and neurite density index), independently of white matter hyperintensity volume. In summary, poorer normal-appearing white matter microstructural integrity in ∼70-year-olds was associated with measures of cerebral small vessel disease, amyloid (in males) and later-life cardiovascular health, demonstrating how normal-appearing white matter can provide additional information to overt white matter disease. Our findings further show that greater 'midlife' cardiovascular risk and higher blood pressure were associated with poorer normal-appearing white matter microstructural integrity in females only, suggesting that women's brains may be more susceptible to the effects of midlife blood pressure and cardiovascular health., Competing Interests: N.C.F. has consulted for Biogen, Ionis, Eli Lilly and Roche and has served on a Data Safety Monitoring Committee for Biogen. J.M.S. has received research funding from Avid Radiopharmaceuticals (a wholly owned subsidiary of Eli Lilly), has consulted for Roche Pharmaceuticals, Biogen, and Eli Lilly, given educational lectures sponsored by GE, Eli Lilly and Biogen, and serves on a Data Safety Monitoring Committee for Axon Neuroscience SE. C.A.L. is now a full-time employee of Roche Products Ltd and a shareholder in Hoffmann La Roche. F.B. is a steering committee or iDMC member for Biogen, Merck, Roche, EISAI and Prothena, is a consultant for Roche, Biogen, Merck, IXICO, Jansen and Combinostics, has research agreements with Merck, Biogen, GE Healthcare and Roche, and is a co-founder and shareholder of Queen Square Analytics LTD. All other authors have no conflicts of interest to declare., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)
Published: 2023
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18. Not all voxels are created equal: Reducing estimation bias in regional NODDI metrics using tissue-weighted means.

Author: Parker CS, Veale T, Bocchetta M, Slattery CF, Malone IB, Thomas DL, Schott JM, Cash DM, and Zhang H
Subjects: Adult, Bias, Humans, Image Processing, Computer-Assisted, Models, Neurological, Phenotype, Alzheimer Disease cerebrospinal fluid, Alzheimer Disease diagnostic imaging, Diffusion Tensor Imaging methods, Neurites ultrastructure, White Matter diagnostic imaging
Abstract: Neurite orientation dispersion and density imaging (NODDI) estimates microstructural properties of brain tissue relating to the organisation and processing capacity of neurites, which are essential elements for neuronal communication. Descriptive statistics of NODDI tissue metrics are commonly analyzed in regions-of-interest (ROI) to identify brain-phenotype associations. Here, the conventional method to calculate the ROI mean weights all voxels equally. However, this produces biased estimates in the presence of CSF partial volume. This study introduces the tissue-weighted mean, which calculates the mean NODDI metric across the tissue within an ROI, utilising the tissue fraction estimate from NODDI to reduce estimation bias. We demonstrate the proposed mean in a study of white matter abnormalities in young onset Alzheimer's disease (YOAD). Results show the conventional mean induces significant bias that correlates with CSF partial volume, primarily affecting periventricular regions and more so in YOAD subjects than in healthy controls. Due to the differential extent of bias between healthy controls and YOAD subjects, the conventional mean under- or over-estimated the effect size for group differences in many ROIs. This demonstrates the importance of using the correct estimation procedure when inferring group differences in studies where the extent of CSF partial volume differs between groups. These findings are robust across different acquisition and processing conditions. Bias persists in ROIs at higher image resolution, as demonstrated using data obtained from the third phase of the Alzheimer's disease neuroimaging initiative (ADNI); and when performing ROI analysis in template space. This suggests that conventional ROI means of NODDI metrics are biased estimates under most contemporary experimental conditions, the correction of which requires the proposed tissue-weighted mean. The tissue-weighted mean produces accurate estimates of ROI means and group differences when ROIs contain voxels with CSF partial volume. In addition to NODDI, the technique can be applied to other multi-compartment models that account for CSF partial volume, such as the free water elimination method. We expect the technique to help generate new insights into normal and abnormal variation in tissue microstructure of regions typically confounded by CSF partial volume, such as those in individuals with larger ventricles due to atrophy associated with neurodegenerative disease., (Copyright © 2021. Published by Elsevier Inc.)
Published: 2021
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19. Validating Automated Segmentation Tools in the Assessment of Caudate Atrophy in Huntington's Disease.

Author: Mansoor NM, Vanniyasingam T, Malone I, Hobbs NZ, Rees E, Durr A, Roos RAC, Landwehrmeyer B, Tabrizi SJ, Johnson EB, and Scahill RI
Abstract: Background: Neuroimaging shows considerable promise in generating sensitive and objective outcome measures for therapeutic trials across a range of neurodegenerative conditions. For volumetric measures the current gold standard is manual delineation, which is unfeasible for samples sizes required for large clinical trials. Methods: Using a cohort of early Huntington's disease (HD) patients ( n = 46) and controls ( n = 35), we compared the performance of four automated segmentation tools (FIRST, FreeSurfer, STEPS, MALP-EM) with manual delineation for generating cross-sectional caudate volume, a region known to be vulnerable in HD. We then examined the effect of each of these baseline regions on the ability to detect change over 15 months using the established longitudinal Caudate Boundary Shift Integral (cBSI) method, an automated longitudinal pipeline requiring a baseline caudate region as an input. Results: All tools, except Freesurfer, generated significantly smaller caudate volumes than the manually derived regions. Jaccard indices showed poorer levels of overlap between each automated segmentation and manual delineation in the HD patients compared with controls. Nevertheless, each method was able to demonstrate significant group differences in volume ( p < 0.001). STEPS performed best qualitatively as well as quantitively in the baseline analysis. Caudate atrophy measures generated by the cBSI using automated baseline regions were largely consistent with those derived from a manually segmented baseline, with STEPS providing the most robust cBSI values across both control and HD groups. Conclusions: Atrophy measures from the cBSI were relatively robust to differences in baseline segmentation technique, suggesting that fully automated pipelines could be used to generate outcome measures for clinical trials., Competing Interests: ER was employed by UCL during the period of data collection and image processing. She now works for IXICO plc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Mansoor, Vanniyasingam, Malone, Hobbs, Rees, Durr, Roos, Landwehrmeyer, Tabrizi, Johnson and Scahill.)
Published: 2021
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19 results on '"Malone, I"'

1. The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

2. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

3. Patterns of white matter tract degeneration and grey matter loss in posterior cortical atrophy and typical amnestic presentations of Alzheimerʼs disease: SC311

4. Association of CAG Repeats With Long-term Progression in Huntington Disease

5. Apathy associated with impaired recognition of happy facial expressions in Huntington's disease

6. MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

7. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

8. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

9. Short-interval observational data to inform clinical trial design in Huntington's disease

10. E05 6-,9- And 15-Month Change in Cortical Thickness and Region-Of-Interest Volume And Diffusion Metrics in Huntington's Disease: Informing Trial Design

11. 06 Early subcortical amyloid deposition in familial Alzheimer's disease is accompanied by changes in tissue volume and diffusivity

12. 05 White matter tract changes in the primary progressive aphasias

13. P.2.037 Reducing long term physical health risks associated with severe mental illness through a weight management programme: 3 year results

14. Spectral History: The Ghost Stories of Dorothy Macardle

15. I02 Automated longitudinal measures of global and regional brain volume change in premanifest and early Huntington's disease.

16. The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition.

17. Neuroimaging, clinical and life course correlates of normal-appearing white matter integrity in 70-year-olds.

18. Not all voxels are created equal: Reducing estimation bias in regional NODDI metrics using tissue-weighted means.

19. Validating Automated Segmentation Tools in the Assessment of Caudate Atrophy in Huntington's Disease.

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