Clinical and genetic characteristics of late-onset Huntington's disease

Alberto Albanese, Anna Rita Bentivoglio, Mayke Oosterloo, Emilia K. Bijlsma, Sander Mj. Van Kuijk, Floor Minkels, Christine Em. De Die-Smulders, Anne-Catherine Bachoud-Lévi, Ida Biunno, Raphael M. Bonelli, Juliana Bronzova, Jean-Marc Burgunder, Stephen B. Dunnett, Joaquim J. Ferreira, Jan Frich, Joe Giuliano, Olivia J. Handley, Arvid Heiberg, Sergey Illarioshkin, Torsten IllmannJiri Klempir, G. Bernhard Landwehrmeyer, Jamie Levey, Tim Mclean, Jørgen E. Nielsen, Susana Pro Koivisto, Markku Päivärinta, Sven Pålhagen, Oliver Quarrell, Maria Ramos-Arroyo, Raymund A.C. Roos, Carsten Saft, Ana Rojo Sebastián, Sarah J. Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström+, Jacek Zaremba, Katrin Barth, Reineke Bos, Leonor Correia Guedes, Jenny Callaghan, Daniel Ecker, Ruth Fullam, Andrea Horta, Christine Held, Saul Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Nadia Peppa, Dawn Rogers, Yury Seliverstov, Jenny Townhill, Patricia Trigo Cubillo, Grzegorz Witkowski, Abigail Wright, Elizaveta Yudina, Daniel Zielonka, Karen Hecht, Brigitte Herranhof, Anna Holl (Formerly Hödl), Hans-Peter Kapfhammer, Michael Koppitz, Sabine Lilek, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Barbara Larcher, Philipp Mahlknecht, Christoph Müller, Bernadette Pinter, Werner Poewe, Eva-Magdalena Reiter, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Gunther Ladurner, Stefan Lilek, Daniela Sinadinosa, Wolfgang Staffen, Anna Maria Walleczek, Christoph Linder, Walter Pirker, Dirk Liessens, Godelinde Calmeyn, Nele Somers, Isabelle Delvaux, Andrea Boogaerts, Anja Flamez, Sylvie De Raedt, Nick Alaerts, Hichem Slama, Frédéric Supiot, Eric Constant, Anne-Françoise Gillardin, Marie-Claude Léonard, Françoise Van De Wyngaerde, Michel Dupuis, Cécile Minet, Pascale Ribaï, Dominique Van Paemel, Dimphna Van Reijen, Petra Weckx, Michaela Kaiserova, Zuzana Šenkárová, Ondřej Bezdíček, Jiří Klempíř, Olga Klempířová, Veronika Majerová-Ibarburu, Tomáš Nikolai, Jan Roth, Irena Stárková, Louise Hasselstrøm Madsen, Anette Torvin Møller, Lena Hjermind, Oda Jacobsen, Ida Unmack Larsen, Suzanne Lindquist, Jørgen Nielsen, Lisbeth Regeur, Peter Roos, Jette Stockholm, Christina Vangsted-Hansen, Tua Vinther-Jensen, Annette Lolk, Marianne Lundsgaard, Lene Wermuth, Christian Andersson, Clara Nyberg, Jimmy Sundblom, Maarit Peippo, Marjatta Sipponen, Anu Bruun, Paivi Hartikainen, Seija Mäkipää, Mari Ollokainen, Jaana Åman, Mikko Kärppä, Jaakko Ignatius, Outi Jääskeläinen, Outi Kajula, Jukka Moilanen, Aki Mustonen, Maire Santala, Pia Eklund, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Marjut Ojala, Sirkku Tähkäpää, 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, Déborah Bled, Sabrina Debruxelles, Charlotte Duché, Sonia Fraisse, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Julien Couttier, Bérengère Debilly, Christine Delaigue, Philippe Derost, Franck Durif, Véronique Germain, Perrine Legendre, Sylvie Loiseau, Ana Marques, Miguel Ulla, Tiphaine Vidal, Farideh Badei, Marie-Françoise Boissé, Lotfi Boudali, Laurent Cleret De Langavant, Laurie Lemoine, Graca Morgado, Katia Youssov, Agnès Annic, Recka Barthélémy, Christelle De Bruycker, Maryline Cabaret, Anne-Sophie Carette, Nicolas Carrière, Eric Decorte, Luc Defebvre, Marie Delliaux, Arnaud Delval, Alizé Depelchin, Alain Destee, Nelly Dewulf-Pasz, Thibaut Dondaine, Florence Dugauquier, Kathy Dujardin, Lucie Hopes, Pierre Krystkowiak, Marie-Hélène Lemaire, Sylvie Manouvrier, Eugénie Mutez, Mireille Peter, Lucie Plomhause, Bernard Sablonnière, Clémence Simonin, Céline Tard, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Stéphanie Blin, Simone Chen, Kamel Masmoudi, Gilles Morin, Martine Roussel, Mélissa Tir, Béatrice Schüler, Sandrine Wannepain, Yassine Zouitina, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Aicha Guenam, Laura Mundler, Karine Nguyen, Sandra Benaich, Alexis Brice, Sarah Boster, Perrine Charles, Alexandra Durr, Claire Ewenczyk, Hélène Francisque, Céline Jauffret, Damian Justo, Abdulrahman Kassar, Stephan Klebe, Fabien Lesne, Paolo Milani, Marie-Lorraine Monin, Tiffany Monnier, Emmanuel Roze, Alina Tataru, Maya Tchikviladzé, Sandrine Bioux, Evangeline Bliaux, Carole Girard, Lucie Guyant-Maréchal, Didier Hannequin, Véronique Hannier, Séverine Jourdain, David Maltête, Dorothée Pouliquen, Mathieu Anheim, Nadia Barun, Ouhaid Lagha-Boukbiza, Nadine Longato, Christophe Marcel, Clélie Phillipps, Gabrielle Rudolf, Gisèle Steinmetz, Christine Tranchant, Caroline Wagner, Marie-Agathe Zimmermann, Leily Blondeau, Fabienne Calvas, Samia Cheriet, Helène Delabaere, Jean-François Demonet, Laurent Marquine, Jérémie Pariente, Michèle Pierre, Elsa Pomies, Sandrine Rolland, Corinne Souyris, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Markus Beuth, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Spruth, Silvia Thiel, Jürgen Andrich, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kraus, Christiane Stamm, Christos Ganos, Lars Stubbe, Vera Tadic, Jennifer Tübing, Herwig Lange, Cecile Bosredon, Ulrike Hunger, Matthias Löhle, Antonia Maass, Christiana Ossig, Simone Schmidt, Alexander Storch, Annett Wolz, Martin Wolz, Zacharias Kohl, Christina Kozay, Jürgen Winkler, Ulrike Bergmann, Regina Böringer, Philipp Capetian, Gerit Kammel, Johann Lambeck, Miriam Mächtel, Simone Meier, Michel Rijntjes, Birgit Zucker, Kai Boelmans, Ines Goerendt, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Simone Zittel, Gabriele Diercks, Dirk Dressler, Flverly Francis, Sabine Gayde-Stephan, Heike Gorzolla, Bianca Kramer, Rebecca Minschke, Christoph Schrader, Pawel Tacik, Michael Ribbat+, Bernhard Longinus, Carsten Möller, Katrin Bürk, Antje Lüsebrink, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Nicole Göpfert, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Nathalia Weber, Michael Bachmeier, Matthias Dose, Nina Hofstetter, Ralf Marquard, Alzbeta Mühlbäck, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süssmuth, Sonja Trautmann, Melanie Vogel, Patrick Weydt, Thomas Musacchio, Christine Leypold, Kerstin Nöth, Claudia Cormio, Olimpia Difruscolo, Giovanni Franco, Angela Nuzzi, Vittorio Sciruicchio, Claudia Serpino, Marina De Tommaso, Giovanna Calandra-Buonaura, Sabina Capellari, Pietro Cortelli, Roberto Gallassi, Roberto Poda, Cesa Scaglione, Chiara Agosti, Sergio Barlati, Silvia Compostella, Eleonora Marchina, Alessando Padovani, Michela Figorilli, Francesco Marrosu, Antonella Muroni, Valeria Piras, Melisa Vacca, Elisabetta Bertini, Caterina Bartoli, Fernanda Fortunato, Elena Ghelli, Andrea Ginestroni, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini Di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Emilio Di Maria, Tiziano Tamburini, Simona Castagliuolo, Anna Castaldo, Stefano Di Donato, Daniela Di Bella, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Dominga Paridi, Paola Soliveri, Francesca Spagnolo, Franco Taroni, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Carlo Rinaldi, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Tecla Tucci, Milena Cannella, Valentina Codella, Francesca De Gregorio, Annunziata De Nicola, Francesca Elifani, Chiara Esposito, Tiziana Martino, Irene Mazzante, Martina Petrollini, Maria Simonelli, Maurizio Vezza, Ferdinando Squitieri, Barbara D'Alessio, Francesca Lovo, Giulia Coarelli, Michela Ferraldeschi, Giovanni Ristori, Monique S.E. Van Hout, Jeroen P.P. Van Vugt, A. Marit De Weert, Marloes Verhoeven, Meike Dekker, Jesper Klooster, Nico Leenders, Joost Van Oostrom, Berry Kremer, Verena Baake, Simon J.A. Van Den Bogaard, Eve M. Dumas, Ellen P. T Hart, Marye Hogenboom, Milou Jacobs, Caroline Jurgens, Anne Kampstra, Anne Schoonderbeek, Marie-Noëlle Witjes-Ané, Annelien Duits, Mirella Waber, Carla Verstappen, Ellen Økland Blinkenberg, Erik Hauge, Hilde Tyvoll, Olaf Aaserud, Nils Olaf Aanonsen, Kathrine Bjørgo, Nancy Borgerød, Elisabeth Dramstad, Madeleine Fannemel, Jan C. Frich, Per F. Gørvell, Kathrine Haggag, Cecilie Haggag Johannessen, Lars Retterstøl, Oddveig Røsby, Jutta Rummel, Alma Sikiric, Bodil Stokke, Marleen Van Walsem, Ragnhild Wehus, Vibeke Arntsen, Inga Bjørnevoll, Sigrid Botne Sando, Marte Gjøl Haug, Hanna Haugan Størseth, Rune Østern, Julie Paulsen, Artur Dziadkiewicz, Agnieszka Konkel, Ewa Narożańska, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, 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, Malgorzata Krawczyk, Ewelina Kubowicz, Michalina Malec-Litwinowicz, Agata Stenwak, Andrzej Szczudlik, Elżbieta Szczygieł, Magdalena Wójcik, Anna Wasielewska, Jacek Anioła Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempołowicz, Bartłomiej Wiśniewski, Anna Gogol (Formerly Kalbarczyk), Piotr Janik, Zygmunt Jamrozik, Anna Kaminska, Hubert Kwiecinski+, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stępniak, Anna Sułek, Elzbieta Zdzienicka, Karolina Ziora-Jakutowicz, Cristina Januário, Filipa Júlio, Manuel Almeida, Ana Calado, Margarida Dias, Joana Morgado, Cristina Semedo, Miguel Coelho, Andreia Magalhães, Tiago Mendes, Dulce Neutel, Filipe Rodrigues, Anabela Valadas, Cristina Costa, Helena Cardoso, Mariana Santos, Gonçalo Cação, Sara Cavaco, Joana Damásio, Joana Fernandes, Alexandra Gonçalves, Rui Loureiro, Inês Moreira, Marina Magalhães, Paula Salgado, Carlos Andrade, Andreia Costa, Carolina Garrett, Miguel Gago, Joana Guimarães, João Massano, Joana Meireles, Ana Monteiro, Diana Khasanova, Zuleykha Zalyalova, Sergey Klyushnikov, Olga Sidorova, Oleg Smirnov, Victoria Antonova, Svetlana Kopishinskaya, Maria Korotysh, Rim Magzhanov, Elena Saifullina, Sergey Kurbatov, Pilar Solis, Carmen Durán Herrera, Patrocinio Garcia Moreno, Jordi Bas, Núria Busquets, Matilde Calopa, Serge Jaumà Classen, Nadia Rodríguez Dedichá, María Teresa Buongiorno, Andrés De La Cerda Santa María, Esteban Muñoz, Pilar Santacruz, Miquel Aguilar Barbera, Sonia Arribas Pardo, Dolors Badenes Guia, Noemi Calzado, Laura Casas Hernanz, Juan Pablo Tartari Díaz-Zorita, Judit López Catena, Pilar Quiléz Ferrer, Gemma Tome Carruesco, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Elvira Roca, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Antonia Campolongo, Ramon Fernandez De Bobadilla, Jaime Kulisevsky Bojarsky, Javier Pagonabarraga, Jesus Perez Perez, Roser Ribosa, Carolina Villa, Maria Angeles Acera Gil, Koldo Berganzo Corrales, Juan Carlos Gomez Esteban, Amaia González, Beatriz Tijero Merino, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Jesús Sánchez, Sandra Gutierrez Romero, José Matías Arbelo, Rocío Malo De Molina, Idaira Martín, Juan Manuel Periañez, Beatriz Udaeta, Fernando Alonso-Frech, María Del Valle Loarte, Francisco Barrero, Blas Morales, Belén Frades, Marina Ávila Villanueva, Maria Ascension Zea Sevilla, María Del Mar Fenollar, Rocío García-Ramos García, Clara Villanueva, Mónica Bascuñana, Marta Fatás Ventura, Juan García Caldentey, Guillermo García Ribas, Justo García De Yébenes, José Luis López–Sendón Moreno, Verónica Mañanes Barral, Cici Feliz, Pedro José García Ruíz, Ana García, Rosa Guerrero López, Antonio Herranz Bárcenas, Asunción Martínez-Descals, Angel Martínez Pueyo, Veronica Puertas Martin, Noelia Rodríguez Martínez, Teresa Montojo, María José Sainz Artiga, Vicenta Sánchez, María Dolores Alarcón, Carmen Antúnez Almagro, Esther Diéguez, Lorenza Fortuna, Agustina Legaz, Salvadora Manzanares, Juan Marín Muñoz, María Martirio Antequera Torres, Fuensanta Noguera Perea, Laura Vivancos, Sonia González, Luis Menéndez Guisasola, Marta Para Prieto, René Ribacoba, Carlos Salvador, Pablo Sánchez Lozano, Inés Legarda Ramirez, Dolors Moragues Benito, Penelope Navas Arques, Monica Rodriguez Lopera, Barbara Vives Pastor, Itziar Gaston, Fermin Garcia-Amigot, Maria Dolores Martinez-Jaurrieta, Maria Antonia Ramos-Arroyo, Astrid Adarmes, Maravilla Bernal-Escudero, Fátima Carrillo, Silvia Jesús, Pablo Mir, Laura Vargas-González, Fátima Damas Hermoso, José Manuel García Moreno, Javier Abril Jaramillo, Carolina Mendez Lucena, Eva María Pacheco Cortegana, José Chacón Peña, Luis Redondo, Violeta Sánchez Sánchez, Cristina Melgar Fernandez, María Dolores Romero Lemos, Maite Paredes Mata, Rocío Villagrán Casado, Maria Bosca, Juan Andres Burguera, Francisco Castera Brugada, Jose Maria Millán Salvador, Carmen Peiró Vilaplana, Pilar Solís, Begoña Jeweinat Figuerola, Paloma Millan Palanca, Elena Bellosta Diago, Javier López Del Val, Laura Martinez Martinez, Elena López, Ulrika Høsterey-Ugander, Gunnel Fredlund, Radu Constantinescu, Kajsa 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Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

Abstract

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients.
Lingua originaleEnglish
pagine (da-a)101-105
RivistaPARKINSONISM &amp; RELATED DISORDERS
Volume61
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Age of onset
  • Geriatrics and Gerontology
  • Huntington's disease
  • Late-onset Huntington's disease
  • Neurology
  • Neurology (clinical)

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