2016
article
Clinical manifestations of intermediate allele carriers in Huntington disease
Esther Cubo, María A. Ramos-Arroyo, Saül Martínez‐Horta, Asunción Martínez-Descalls, Sara Calvo, Cecilia Gil‐Polo, Anna Rita Bentivoglio, Ida Biunno, Raphael M. Bonelli, Jean‐Marc Burgunder, Stephen B. Dunnett, Joaquim J. Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, María A. Ramos‐Arroyo, Jørgen E. Nielsen, Susana Pro Koivisto, Markku Päivärinta, Sarah J. Tabrizi, Wim Vandenberghe, Christine Verellen‐Dumoulin, Tereza Uhrová, Jan Wahlström, Verena Baake, Katrin Barth, Adrien Come, Leonor Correia Guedes, Mónica Bascuñana Garde, Sabrina Betz, Selene Capodarca, Sébastien Charpentier, Wildson Vieira da Silva, Martina Di Renzo, Daniel Ecker, Camille Genoves, Mette Gilling, Carina Hvalstedt, Christine Held, Andrea Horta‐Barba, Kerstin Koppers, Claudia Lamanna, Matilde Laurá, Asunción Martínez Descals, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Hélène Padieu, Laurent Paterski, Nadia Peppa, Beate Rindal, Dawn Rogers, Niini Røren, Pavla Šašinková, Catherine Taylor, Erika Timewell, Jenny Townhill, Marleen R. van Walsem, Marie‐Noëlle W. Witjes‐Ané, Abigail Wright, Elizaveta Yudina, Daniel Zielonka, Cécile Minet, Pascale Ribaı̈, Dominique Van Paemel, Lena E. Hjermind, O. Jacobsen, Suzanne Granhøj Lindquist, Lisbeth Regeur, Jette Stockholm, Ida Unmack Larsen, Christina Vangsted-Hansen, Tua Vinther‐Jensen, Pia Eklund, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Julie Prouzet, Adriana Prundean, Clarisse Scherer‐Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Farideh Badei, Lotfi Boudali, Catherine Bourdet, Laurent Cléret, Maryline Couette, Cécile Focseneanu, Laurie Lemoine, Graça Morgado, Mehdi Aoun Sebaïti, Claire Thiriez, Laetitia Vervoitte, Katia Youssov, Jean‐Philippe Azulay, Christelle Chabot, Marie Delfini, Alexandre Eusébio, Frédérique Fluchère, C Garreau, Aicha Ghenam, Hélène Grosjean, Laura Mundler, M. Nowak, Roland Raseta, Maïté Bertrand, Fabienne Calvas, Samia Cheriet, Laurent Marquine, Michèle Pierre, Jérémie Pariente, S. Rolland, Alice Seris, Valérie Vaquie, Christoph M. Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara J. Kaminski, Carsten Saft, Kai Boelmans, Christos Ganos, Ines Goerendt, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Flverly Francis, Sabine Gayde-Stephan, Heike Gorzolla, Bianca Kramer, Rebecca Minschke, Christoph Schrader, Paweł Tacik, N Bechtel, H Beckmann, Stefan Bohlen, Nicole Göpfert, E. Hölzner, Herwig W. Lange, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Nathália Weber, Michael Bachmeier, M. Dose, Nina Hofstetter, Ralf Marquard, Alžbeta Mühlbäck, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Franziska Lezius, Solveig Nepper, Anke Niess, A. Schneider, Daniela Schwenk, Sigurd D. Süßmuth, Sonja Trautmann, Patrick Weydt, Stephan Klebe, Thomas Musacchio, Christine Leypold, Kerstin Nöth, Claudia Cormio, Marina de Tommaso, Anna Rita Dellomonaco, Olimpia Difruscolo, Giovanni Franco, Vittorio Sciruicchio, Claudia Serpino, Michela Figorilli, Francesco Marrosu, Antonella Muroni, Valeria Piras, Melisa Vacca, Caterina Bartoli, Elisabetta Bertini, F. Fortunato, Elena Ghelli, Andrea Ginestroni, Claudia Mechi, M. Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giuseppe De Michele, Luigi Di Maio, Carlo Rinaldi, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Pierpaolo Sorrentino, Elena Salvatore, Tecla Tucci, Milena Cannella, Valentina Codella, Francesca Gregorio, Annunziata De Nicola, Francesca Elifani, Tiziana Martino, Francesca Lovo, Irene Mazzante, Martina Petrollini, Maria Simonelli, Ferdinando Squitieri, Maurizio Vezza, Barbara D’Alessio, Chiara Esposito, Giulia Coarelli, Michela Ferraldeschi, Marina Frontali, Gioia Jacopini, Giovanni Ristori, Silvia Romano, Monique S.E. van Hout, Jeroen P.P. van Vugt, A. Marit de Weert, Marloes Verhoeven, Simon J.A. van den Bogaard, Eve M. Dumas, Ellen P. Hart, Milou Jacobs, Anne Kampstra, Anne Schoonderbeek, Nils Olav Aanonsen, Olaf Aaserud, Liv Barnett, Kathrine Bjørgo, Nancy Borgerød, Elisabeth Dramstad, Madeleine Fannemel, Jan C. Frich, Helen Gundersen, Per F. Gørvell, Kathrine J. Haggag, Cecilie Johannessen, Lars Retterstøl, Oddveig Røsby, Jutta Rummel, Alma Sikiric, Olga Solberg, Marleen van Walsem, Ragnhild Wehus, Artur Dziadkiewicz, Agnieszka Konkel, Ewa Narożańska, Małgorzata Nowak, Piotr Robowski, Emilia J. Sitek, Jarosław Sławek, Witold Sołtan, Michal Szinwelski, Michał Arkuszewski, Magdalena Błaszczyk, Magdalena Boczarska‐Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasińska‐Myga, Aleksandra Kaczmarczyk, Gabriela Kłodowska – Duda, Grzegorz Opala, Monika Rudzińska, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Boćwińska, Kamila Bojakowska-Jaremek, Małgorzata Dec, Natalia Grabska, Małgorzata Krawczyk, Ewelina Kubowicz, Michalina Malec‐Litwinowicz, Agata Stenwak, Andrzej Szczudlik, Elżbieta Szczygieł, Magdalena Wójcik-Pędziwiatr, Anna Wasielewska, Jacek Anioła Anna Bryl, Anna Ciesielska, Aneta Klimberg, T Marcinkowski, Husam Samara, Justyna Sempołowicz, Bartłomiej Wiśniewski, Anna Gogol, Piotr Janik, Zygmunt Jamrozik, Anna Kamińska, Hubert Kwieciński, Jakub Antczak, Katarzyna Jachińska, Wioletta Krysa, P Richter, Rafał Rola, Danuta Ryglewicz, Halina Sienkiewicz‐Jarosz, Iwona Stępniak, Anna Sułek, Elżbieta Zdzienicka, Karolina Ziora-Jakutowicz, Cristina Januário, Filipa Júlio, Ana Salgueiro, Miguel Coelho, Tiago Mendes, Mário Miguel Rosa, Anabela Valadas, Cristina Semedo, Ana Calado, J. Morgado, Margarida Dias, Manuel Almeida, Carmen Herrera-Espiñeira, Patrocinio Garcia Moreno, Jordi Bas, Núria Busquets, Matilde Calopa, Serge Jaumá Classen, Nadia Rodríguez Dedichá, Miquel Aguilar Barberà, Sonia Arribas Pardo, Dolors Badenes Guia, Noemi Calzado, Laura Casas Hernanz, Juan Pablo Tartari Díaz-Zorita, Judit López Catena, Pilar Ferrer, Gemma Tome Carruesco, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Elvira Roca, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Antònia Campolongo, Ramón Fernández de Bobadilla, Jaime Kulisevsky Bojarsky, Javier Pagonabarraga, Jesús Pérez‐Pérez, Carolina Villa, M. Acera, Koldo Berganzo Corrales, Juan Carlos Gómez‐Esteban, Amaia González, Beatriz Merino, Natividad Mariscal, Sandra Romero, José Matías Arbelo, Rocío Malo de Molina, Idaira Martín, Juan Manuel Periañez, Beatriz Saiz Udaeta, Fernando Alonso‐Frech, Belén Frades, Marina Ávila‐Villanueva, María Ascensión Zea Sevilla, Fernando Alonso Frech, María del Mar Fenollar, Rocío García-Ramos García, Clara Villanueva, Mónica Bascuñana, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón, Verónica Mañanes Barral, Cici Feliz Feliz, Pedro Ruiz, Ana García, Juan García Caldentey, Rosa Guerrero, Antonio Herranz Bárcenas, Asunción Martínez‐Descals, Ángel Martínez Pueyo, Veronica Puertas Martin, N Martínez, María José Sainz Artiga, Vicenta Sánchez, Javier del Val Fernández, Carmen Antúnez Almagro, Salvadora Manzanares, María Martirio Antequera Torres, Fuensanta Noguera Perea, L. Vivancos, Carlos Salvador, René Ribacoba, Pablo Sánchez Lozano, Marta Para Prieto, Aranzazú Gorospe, Inés Legarda Ramirez, Penelope Navas Arques, Mónica Rodriguez Lopera, Barbara Vives Pastor, Itziar Gastón, María A. Ramos-Arroyo, Maria Dolores Martinez-Jaurrieta, José Manuel García Moreno, Carolina Méndez Lucena, José Chacón Peña, Fátima Damas Hermoso, Eva Pacheco Cortegana, Cristina Melgar Fernandez, Maite Paredes Mata, María Dolores Romero Lemos, J A Burguera, Francisco Vilaplana, Elena Bellosta Diago, J López del Val, Laura Martínez‐Martínez, Elena López, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Hösterey-Ugander, Liselotte Neleborn-Lingefjärd, Yanik Stebler, Alain Kaelin‐Lang, Irene Gallego Romero, Michaël Schüpbach, Sabine Weber Zaugg, Lorna Downie, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, D. O. Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughn, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Sarah Hunt, Lesley Jones, Una Jones, Hanan Khalil, Michael J. Owen, Kathleen Price, Anne Rosser, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Alyson Andrew, Julie Frost, Rupert Noad, Jeremy Cosgrove, Deena Gallantree, Stephanie Hamer, Emma Hobson, Stuart W. Jamieson, Alison Kraus, Mandy Longthorpe, Ivana S. Marková, Hannah Musgrave, Caroline Peacy, Ashok Raman, Liz Rowett, Jean Toscano, Sue Wild, Carole Clayton, Pam Yardumian, Heather Dipple, Dawn Freire- Patino, Caroline Hallam, Julia Middleton, Uruj Anjum, J.W.W. Coebergh, Charlotte Eddy, Nayana Lahiri, Meriel McEntagart, Michael J. Patton, Maria Peterson, Sarah Rose, Thomasin Andrews, Stefanie Brown, Stefania Bruno, Elvina Chu, Karen A. Doherty, Charlotte Golding, Salman Haider, Monica Lewis, Marianne Novak, Aakta Patel, Joy Read, Nicola Robertson, Elisabeth Rosser, Rachel Taylor, Thomas T. Warner, Edward J. Wild, Natalie Arran, Judith Bek, Jenny Callaghan, David Craufurd, Ruth Fullam, Marianne Hare, Liz Livingston Howard, Susan Huson, Liz Johnson, Mary Pat Jones, Ashok Krishnamoorthy, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Andrea Sollom, Julie S. Snowden, Cheryl Stopford, J. C. Thompson, Iris Trender‐Gerhard, Nichola Verstraelen, Leann Westmoreland, G.R. Cass, Lynn Davidson, Jill Davison, Neil Fullerton, K. Holmes, Suresh Komati, Sharon M. McDonnell, Zeid Mohammed, K.E. Morgan, L. Savage, Baldev Singh, Joshua Wood, Andrea H. Németh, Gill Siuda, Ruth A. Valentine, K. Dixon, Richard Armstrong, David J. Harrison, Max Hughes, Sandra Large, John O Donovan, Amy Palmer, Andrew Parkinson, Beverley Soltysiak, Leanne Timings, Josh Williams, Oliver Bandmann, Alyson Bradbury, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Paul R. Gill, Mbombe Kazoka, Kirsty O’Donovan, Louise Nevitt, Oliver Quarrell, Cat Taylor, Katherine Tidswell, Lesley Gowers, Kingsley Powell, Pamela Bethwaite, Rachel Edwards, Kathleen P. Fuller, Michelle Phillips
55Citations signalées — pas une note de qualité
4Institutions déclarées
1Pays d’affiliation déclarés
Résumé fourni par la source
OBJECTIVE: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. METHODS: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. RESULTS: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p = 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p = 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p = 0.002). CONCLUSIONS: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. CLINICALTRIALSGOV IDENTIFIER: NCT01590589.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Clinical manifestations of intermediate allele carriers in Huntington disease
- Date Crossref
- 09/08/2016
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
Institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Sujets associés
Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis ResearchParkinson's Disease Mechanisms and Treatments