8 research outputs found
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
- Author
- Abbas M.
- Abdul Rasheed A.
- Abdul A.
- Abdul-Kadir R.
- Abdusamad K.
- Abernethy K.
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- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 31/01/2024
- Field of study
Get PDFDimethyl fumarate (DMF) inhibits inflammasome-mediated inflammation and has been proposed as a treatment for patients hospitalised with COVID-19. This randomised, controlled, open-label platform trial (Randomised Evaluation of COVID-19 Therapy [RECOVERY]), is assessing multiple treatments in patients hospitalised for COVID-19 (NCT04381936, ISRCTN50189673). In this assessment of DMF performed at 27 UK hospitals, adults were randomly allocated (1:1) to either usual standard of care alone or usual standard of care plus DMF. The primary outcome was clinical status on day 5 measured on a seven-point ordinal scale. Secondary outcomes were time to sustained improvement in clinical status, time to discharge, day 5 peripheral blood oxygenation, day 5 C-reactive protein, and improvement in day 10 clinical status. Between 2 March 2021 and 18 November 2021, 713 patients were enroled in the DMF evaluation, of whom 356 were randomly allocated to receive usual care plus DMF, and 357 to usual care alone. 95% of patients received corticosteroids as part of routine care. There was no evidence of a beneficial effect of DMF on clinical status at day 5 (common odds ratio of unfavourable outcome 1.12; 95% CI 0.86-1.47; p = 0.40). There was no significant effect of DMF on any secondary outcome
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
- Author
- Abbas M.
- Abdul Rasheed A.
- Abdul A.
- Abdul-Kadir R.
- Abdusamad K.
- Abernethy K.
- Aboelela H.
- Abouzaid M.
- Abraham M.
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- Abrams J.
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- Al-Saadi Z.
- Al-Shahi Salman R.
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- Central Coordinating Office (for the RECOVERY Collaborative Group)
- Century H.
- Chadwick J.
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- Chakraborty A.
- Chamberlain S.
- Chambers E.
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- Chawla V.
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- Chiswick C.
- Chivima B.
- Chmiel C.
- Chrisopoulou A.
- Christian P.
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- Church E.
- Cianci N.
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- Clark E.
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- Clifford S.
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- Coker O.
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- Collini Paul
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- Data Monitoring Committee of the RECOVERY Collaborative Group
- Daunt A.
- Dave V.
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- Fairbairn I.
- Fairclough A.
- Falconer E.
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- Fancois V.
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- Farzana S.
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- Health records (for the RECOVERY Collaborative Group)
- Hector G.
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- Local Clinical Centre staff (for the RECOVERY Collaborative Group)
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Get PDFDimethyl fumarate (DMF) inhibits inflammasome-mediated inflammation and has been proposed as a treatment for patients hospitalised with COVID-19. This randomised, controlled, open-label platform trial (Randomised Evaluation of COVID-19 Therapy [RECOVERY]), is assessing multiple treatments in patients hospitalised for COVID-19 (NCT04381936, ISRCTN50189673). In this assessment of DMF performed at 27 UK hospitals, adults were randomly allocated (1:1) to either usual standard of care alone or usual standard of care plus DMF. The primary outcome was clinical status on day 5 measured on a seven-point ordinal scale. Secondary outcomes were time to sustained improvement in clinical status, time to discharge, day 5 peripheral blood oxygenation, day 5 C-reactive protein, and improvement in day 10 clinical status. Between 2 March 2021 and 18 November 2021, 713 patients were enroled in the DMF evaluation, of whom 356 were randomly allocated to receive usual care plus DMF, and 357 to usual care alone. 95% of patients received corticosteroids as part of routine care. There was no evidence of a beneficial effect of DMF on clinical status at day 5 (common odds ratio of unfavourable outcome 1.12; 95% CI 0.86-1.47; p = 0.40). There was no significant effect of DMF on any secondary outcome
Sequence Variation within the KIV-2 Copy Number Polymorphism of the Human LPA Gene in African, Asian, and European Populations
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- A Gaw
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- W Parson
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- 'Public Library of Science (PLoS)'
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No full textAn International Comparison of Air Pollution Controls for Power Plants: Costs and Regulatory Requirements
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- Electric Power Research Institute
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- NATO Committee on the Challenges of Modern Society
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No full textSystematic discovery of genetic modulation by Jumonji histone demethylases in Drosophila
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- A Tsurumi
- AC Spradling
- AK Csink
- AM Jankowska
- BD Fodor
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No full textBeyond the Standard Lipid Profile: What is Known about Apolipoproteins, Lp(a), and Lipoprotein Particle Distributions in Children
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- A Chait
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- A Varbo
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- AB Kohan
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- Expert Panel on Detection E Treatment of High Blood Cholesterol in A
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No full textClinical manifestations of intermediate allele carriers in Huntington disease
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- Valadas A
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- van Walsem Mr
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- Viladrich Cm
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- Zdzienicka E
- Zea Sevilla Ma
- Zielonka D
- Zielonka D
- Zielonka E
- Zinzi P
- Zinzi P
- Ziora Jakutowicz K
- Zittel S
- Šašinková P
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/01/2016
- Field of study
No full textObjective: 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. ClinicalTrials.gov identifier: NCT01590589
Clinical manifestations of intermediate allele carriers in Huntington disease
- Author
- A Marit de Weert
- Aakta Patel
- Abigail Wright
- Abigail Wright
- Adriana Prundean
- Adrien Come
- Adrienne Curtis
- Agata Stenwak
- Agnieszka Gorzkowska
- Agnieszka Konkel
- Aicha Ghenam
- Alain Kaelin
- Aleksandra Kaczmarczyk
- Alessandro Roca
- Alexander Münchau
- Alexandra Ure
- Alexandre Eusebio
- Alice Seris
- Alison Kraus
- Alma Sikiric
- Alyson Andrew
- Alyson Bradbury
- Alzbeta Mühlbäck
- Amaia González
- Amy Palmer
- Ana Calado
- Ana García
- Ana Maria Finisterra
- Ana Maria Finisterra
- Ana Rojo Sebastián
- Ana Rojo Sebastián
- Ana Salgueiro
- Anabela Valadas
- Andrea Buck
- Andrea Ginestroni
- Andrea H Nemeth
- Andrea Horta-Barba
- Andrea Kesse
- Andrea Sollom
- Andrew Parkinson
- Andrzej Szczudlik
- Aneta Klimberg
- Angel Martínez Pueyo
- Anke Niess
- Anna Ciesielska
- Anna Gogol
- Anna Kaminska
- Anna Maria Romoli
- Anna Rita Bentivoglio
- Anna Rita Dellomonaco
- Anna Sułek
- Anna Wasielewska
- Anne Kampstra
- Anne Rosser
- Anne Schoonderbeek
- Anne-Catherine Bachoud-Lévi
- Annunziata De Nicola
- Antonella Muroni
- Antonia Campolongo
- Antonio Herranz Bárcenas
- Antonio Villa Riballo
- Ariane Schneider
- Artur Dziadkiewicz
- Arvid Heiberg
- Arvid Heiberg
- Aránzazu Gorospe
- Ashok Krishnamoorthy
- Ashok Raman
- Asunción Martínez Descals
- Asunción Martínez-Descals
- Audrey Olivier
- Baldev Singh
- Barbara D'Alessio
- Barbara Jasińska-Myga
- Barbara Kaminski
- Barbara Vives Pastor
- Bartłomiej Wiśniewski
- Beate Rindal
- Beatriz Tijero Merino
- Beatriz Udaeta
- Belén Frades
- Bernhard Landwehrmeyer
- Beverley Hayward
- Beverley Soltysiak
- Bianca Kramer
- Blandine Babiloni
- Bénédicte Gohier
- Calvo S.
- Camille Genoves
- Carina Hvalstedt
- Carlo Rinaldi
- Carlos Salvador
- Carmen Antúnez Almagro
- Carmen Durán Herrera
- Carole Clayton
- Carolin Geitner
- Carolina Mendez Lucena
- Carolina Villa
- Caroline Hallam
- Caroline Peacy
- Carsten Saft
- Cat Taylor
- Caterina Bartoli
- Catherine Bourdet
- Catherine Clenaghan
- Catherine Taylor
- Cecilie Haggag Johannessen
- Charlotte Duché
- Charlotte Eddy
- Charlotte Golding
- Cheryl Stopford
- Chiara Esposito
- Christelle Chabot
- Christian Sass
- Christian Sass
- Christiane Schlangen
- Christina Vangsted-Hansen
- Christine Garreau
- Christine Held
- Christine Held
- Christine Leypold
- Christine Verellen-Dumoulin
- Christine Verellen-Dumoulin
- Christoph Michael Kosinski
- Christoph Schrader
- Christophe Verny
- Christos Ganos
- Cici Feliz Feliz
- Cinzia Valeria Russo
- Claire Thiriez
- Clara Villanueva
- Clarisse Scherer-Gagou
- Claudia Cormio
- Claudia Lamanna
- Claudia Mechi
- Claudia Serpino
- Cornelius J Werner
- Cristina Januário
- Cristina Melgar Fernandez
- Cristina Semedo
- Cubo E.
- Cynthia Butcher
- Cyril Goizet
- Cèlia Mareca Viladrich
- Cécile Focseneanu
- Cécile Minet
- Daniel Ecker
- Daniel Ecker
- Daniel Stompel
- Daniel Zielonka
- Daniel Zielonka
- Daniela Monza
- Daniela Probst
- Daniela Rae
- Daniela Schwenk
- Danielle Lafoucrière
- Danuta Ryglewicz
- David Craufurd
- David Harrison
- Davina Hensman
- Dawn Freire- Patino
- Dawn Rogers
- Dawn Rogers
- Deena Gallantree
- Dirk Dressler
- Dolors Badenes Guia
- Dominique Bonneau Marie Bost
- Dominique Van Paemel
- Dorota Boćwińska
- Edward Wild
- Elena Bellosta Diago
- Elena Ghelli
- Elena López
- Elena Salvatore
- Elisabeth Dramstad
- Elisabeth Rosser
- Elisabetta Bertini
- Elizabeth Coulthard
- Elizaveta Yudina
- Ellen P 't Hart
- Elvina Chu
- Elvira Roca
- Elzbieta Zdzienicka
- Elżbieta Szczygieł
- Emilia Sitek
- Emma Hobson
- Emma Oughton
- Erika Timewell
- Esther Cubo
- Eugeniusz Zielonka
- Eva Hölzner
- Eva Milkereit
- Eva Pacheco Cortegana
- Eve M Dumas
- Ewa Narożańska
- Ewelina Ciach-Wysocka
- Ewelina Kubowicz
- Fabienne Calvas
- Farideh Badei
- Ferdinando Squitieri
- Fernanda Fortunato
- Fernando Alonso Frech
- Fernando Alonso-Frech
- Filipa Júlio
- Fiona Summers
- Flverly Francis
- Francesca De Gregorio
- Francesca Elifani
- Francesca Lovo
- Francesco Marrosu
- Francisco Castera Brugada Carmen Peiró Vilaplana
- Franziska Lezius
- Frédérique Fluchere
- Fuensanta Noguera Perea
- Fátima Damas Hermoso
- G Bernhard Landwehrmeyer
- Gabriela Kłodowska-Duda
- Gabriele Diercks
- Gareth Thomas
- Gemma Tome Carruesco
- Gil-Polo CAnne-Catherine Bachoud-Lévi
- Gill Siuda
- Ginette Cass
- Gioia Jacopini
- Giovanni Franco
- Giovanni Ristori
- Gisa Ellrichmann
- Giulia Coarelli
- Giuseppe De Michele
- Graça Morgado
- Grzegorz Opala
- Grzegorz Witkowski
- Grzegorz Witkowski
- Guillermo García Ribas
- Gunnel Fredlund
- Halina Sienkiewicz-Jarosz
- Hanan Khalil
- Hannah Musgrave
- Hannele Hypponen
- Heather Dipple
- Heike Beckmann
- Heike Gorzolla
- Helen Fairtlough
- Helen Gundersen
- Helen Murphy
- Helene Padieu
- Heli Hiivola
- Herwig Lange
- Hubert Kwiecinski
- Hugh Rickards
- Husam Samara
- Hélène Grosjean
- Ida Biunno
- Ida Unmack Larsen
- Idaira Martín
- Ines Goerendt
- Inés Legarda Ramirez
- Irene Mazzante
- Irene Romero
- Iris Trender-Gerhard
- Isabella Foustanos
- Itziar Gaston
- Ivana Markova
- Iwona Stępniak
- Jacek Anioła Anna Bryl
- Jacek Zaremba
- Jacek Zaremba
- Jaime Kulisevsky Bojarsky
- Jakub Antczak
- Jamie Levey
- Jan Coebergh
- Jan Frich
- Jan Lewerenz
- Jan Lewerenz
- Jan Wahlström
- Jan Wahlström
- Jan Wright
- Jaroslaw Slawek
- Javier Del Val Fernandez
- Javier López Del Val
- Javier Pagonabarraga
- Jean Rothery
- Jean Toscano
- Jean-Marc Burgunder
- Jean-Marc Burgunder
- Jean-Philippe Azulay
- Jennifer Thompson
- Jenny Callaghan
- Jenny Callaghan
- Jenny Callaghan
- Jenny Crooks
- Jenny de Souza
- Jenny Schmalfeld
- Jenny Townhill
- Jenny Townhill
- Jeremy Cosgrove
- Jeroen P P van Vugt
- Jerzy Marcinkowski
- Jesus Perez Perez
- Jesús Miguel Ruiz Idiago
- Jette Stockholm
- Jill Davison
- Jillian Foster
- Joana Morgado
- Joaquim J Ferreira
- Joaquim J Ferreira
- Johannes Schiefer
- John O Donovan
- John Piedad
- Jordi Bas
- Josh Williams
- Josh Wood
- José Chacón Peña
- José Luis López-Sendón Moreno
- José Manuel García Moreno
- José Matías Arbelo
- Joy Read
- Juan Andres Burguera
- Juan Carlos Gomez Esteban
- Juan García Caldentey
- Juan García Caldentey
- Juan García Caldentey
- Juan Manuel Periañez
- Juan Marín Muñoz
- Juan Pablo Tartari Díaz-Zorita
- Judit López Catena
- Judith Bek
- Julia Connemann
- Julia Middleton
- Julie Frost
- Julie Prouzet
- Julie Snowden
- Justo García de Yébenes
- Justyna Sempołowicz
- Jutta Rummel
- Jérémie Pariente
- Jørgen E Nielsen
- Jørgen Nielsen
- Kai Boelmans
- Kamila Bojakowska-Jaremek
- Karen Doherty
- Karen Morgan
- Karolina Ziora-Jakutowicz
- Kasia Sieradzan
- Katarzyna Jachinska
- Katherine Tidswell
- Kathleen Fuller
- Kathleen Price
- Kathrin Reetz
- Kathrine Bjørgo
- Kathrine Haggag
- Kathryn Dixon
- Katia Youssov
- Katri Tuuha
- Katrin Barth
- Katrin Barth
- Katrina Holmes
- Kay Fillingham
- Kerstin Koppers
- Kerstin Nöth
- Kingsley Powell
- Kirsti Martikainen
- Kirsty Matheson
- Kirsty O'Donovan
- Kirsty O'Donovan
- Koldo Berganzo Corrales
- Krzysztof Banaszkiewicz
- Laetitia Jameau
- Laetitia Vervoitte
- Lars Retterstøl
- Lars Stubbe
- Laura Casas Hernanz
- Laura Martinez Martinez
- Laura Mundler
- Laura Vivancos Moreau
- Laurent Cléret
- Laurent Marquine
- Laurent Paterski
- Laurie Lemoine
- Leann Westmoreland
- Leanne Timings
- Lena Hjermind
- Lennard Herrmann
- Leonor Correia Guedes
- Leonor Correia Guedes
- Lesley Gowers
- Lesley Jones
- Lisanne Mütze
- Lisbeth Regeur
- Liselotte Neleborn-Lingefjärd
- Liv Barnett
- Liz Howard
- Liz Johnson
- Liz Rowett
- Lois Savage
- Lorna Downie
- Lotfi Boudali
- Louise Gethin
- Louise Nevitt
- Lucy Partington-Jones
- Luigi Di Maio
- Luis Menéndez Guisasola
- Luis Redondo
- Lynn Davidson
- Madeleine Fannemel
- Magdalena Boczarska-Jedynak
- Magdalena Błaszczyk
- Magdalena Wójcik
- Maite Paredes Mata
- Malgorzata Krawczyk
- Malgorzata Nowak
- Mandy Longthorpe
- Manuel Almeida
- Marco Massarelli
- Marco Paganini
- Margarida Dias
- Maria Angeles Acera Gil
- Maria Antonia Ramos-Arroyo
- Maria Ascension Zea Sevilla
- Maria Bosca
- Maria Dolores Martinez-Jaurrieta
- Maria Dolores Romero Lemos
- Maria Peterson
- Maria Ramos-Arroyo
- Maria Simonelli
- Marianne Hare
- Marianne Novak
- Marie Delfini
- Marie-Anne Guérid
- Marie-Noelle Witjes-Ané
- Marielle Nowak
- Marina de Tommaso
- Marina Frontali
- Marina Ávila Villanueva
- Markku Päivärinta
- Marleen R van Walsem
- Marleen van Walsem
- Marloes Verhoeven
- Marta Fatás Ventura
- Marta Para Prieto
- Martin Oehmen
- Martina Di Renzo
- Martina Petrollini
- Martinez-Descalls A.
- Martinez-Horta S.
- Mary Jones
- Maryla Rakowicz
- Maryline Couette
- María Del Mar Fenollar
- María José Sainz Artiga
- María Martirio Antequera Torres
- Matilde Calopa
- Matilde Laurà
- Matthias Dose
- Maurizio Vezza
- Max Hughes
- Maïté Bertrand
- Małgorzata Dec
- Mbombe Kazoka
- Mehdi Sebaiti
- Melisa Vacca
- Meriel McEntagart
- Mette Gilling
- Michael Bachmeier
- Michael Orth
- Michael Orth
- Michael Owen
- Michael Patton
- Michael Schüpbach
- Michal Szinwelski
- Michalina Malec-Litwinowicz
- Michał Arkuszewski
- Michela Ferraldeschi
- Michela Figorilli
- Michelle Phillips
- Michèle Pierre
- Miguel Coelho
- Milena Cannella
- Milou Jacobs
- Miquel Aguilar Barbera
- Misericordia Floriach Robert
- Monica Bascuñana Garde
- Monica Busse
- Monica Lewis
- Monica Rodriguez Lopera
- Monika Rudzińska
- Monika Rudzińska
- Monique S E van Hout
- Mário Miguel Rosa
- Mónica Bascuñana
- Nadia Peppa
- Nadia Peppa
- Nadia Rodríguez Dedichá
- Nancy Borgerød
- Natalia Grabska
- Natalie Arran
- Natalie Bechtel
- Nathalia Weber
- Natividad Mariscal
- Nayana Lahiri
- Nayana Lahiri
- Neil Fullerton
- Nichola Verstraelen
- Nicola Johns
- Nicola Robertson
- Nicole Göpfert
- Niini Røren
- Nils Olav Aanonsen
- Nina Hofstetter
- Noelia Rodríguez Martínez
- Noemi Calzado
- Núria Busquets
- Oda Jacobsen
- Oddveig Rosby
- Olaf Aaserud
- Olga Solberg
- Olimpia Difruscolo
- Oliver Bandmann
- Oliver Quarrell
- Olivia J Handley
- Olivia J Handley
- Pablo Sánchez Lozano
- Pam Yardumian
- Pamela Bethwaite
- Paola Zinzi
- Paola Zinzi
- Pascale Ribaï
- Patricia Trigo Cubillo
- Patricia Trigo Cubillo
- Patrick Weydt
- Patrocinio Garcia Moreno
- Paul Gill
- Pavla Šašinková
- Pawel Tacik
- Pedro José García Ruíz
- Penelope Navas Arques
- Per Gørvell
- Peter Berglund
- Peter Brockie
- Philippe Allain
- Pia Eklund
- Pierpaolo Sorrentino
- Pilar Quiléz Ferrer
- Piotr Janik
- Piotr Robowski
- Przemyslaw Richter
- Rachel Edwards
- Rachel Taylor
- Radu Constantinescu
- Rafal Rola
- Ragnhild Wehus
- Rainer Hoffmann
- Ralf Marquard
- Ralf Reilmann
- Ramon Fernandez de Bobadilla
- Ramos-Arroyo M. A.
- Raphael M Bonelli
- Raymund A C Roos
- Raymund A C Roos
- Rebecca Minschke
- Reineke Bos
- Reineke Bos
- René Ribacoba
- Richard Armstrong
- Rocío García-Ramos García
- Rocío Malo de Molina
- Roisin Jack
- Roland Raseta
- Rosa Guerrero López
- Rupert Noad
- Ruth Fullam
- Ruth Fullam
- Ruth Fullam
- Ruth Valentine
- Sabine Gayde-Stephan
- Sabine Weber Zaugg
- Sabrina Betz
- Sabrina Debruxelles
- Salman Haider
- Salvadora Manzanares
- Samia Cheriet
- Sandra Gutierrez Romero
- Sandra Large
- Sandrine Rolland
- Sandro Sorbi
- Sara Minster
- Sara Minster
- Sarah Hunt
- Sarah J Tabrizi
- Sarah Rose
- Sarah Tabrizi
- Saul Martinez-Horta
- Saul Martinez-Horta
- Selene Capodarca
- Serge Jaumà Classen
- Shahbana Akhtar
- Sharon McDonnell
- Sheila A Simpson
- Shona Yates
- Sigrun Schepers
- Sigurd Süssmuth
- Silke Rumpf
- Silvia Piacentini
- Silvia Pradella
- Silvia Romano
- Silvio Peluso
- Simon J A van den Bogaard
- Simone Zittel
- Solveig Nepper
- Sonia Arribas Pardo
- Sonia González
- Sonja Trautmann
- Stefan Bohlen
- Stefania Bruno
- Stefanie Brown
- Stefanie Rohm
- Stephan Klebe
- Stephanie Hamer
- Stephen B Dunnett
- Stephen Dunnett
- Stuart Jamieson
- Sue McKenzie
- Sue Wild
- Suresh Komati
- Susan Huson
- Susana Pro Koivisto
- Susana Pro Koivisto
- Suzanne Lindquist
- Sébastien Charpentier
- Tecla Tucci
- Tereza Uhrova
- Thomas Musacchio
- Thomas Warner
- Thomasin Andrews
- Tiago Mendes
- Tiago Mestre
- Tiago Mestre
- Tiziana Martino
- Torsten Illmann
- Tua Vinther-Jensen
- Ulrika Høsterey-Ugander
- Umberto Spampinato
- Una Jones
- Uruj Anjum
- Ute Hidding
- Valentina Codella
- Valeria Piras
- Valérie Vaquie
- Verena Baake
- Verena Baake
- Veronica Puertas Martin
- Verónica Mañanes Barral
- Vicenta Sánchez
- Vittorio Sciruicchio
- Vivien Vaughn
- Walburgis Heinicke
- Wildson Vieira da Silva
- Wim Vandenberghe
- Wioletta Krysa
- Witold Soltan
- Yanik Stebler
- Yuri Seliverstov
- Zeid Mohammed
- Zosia Miedzybrodzka
- Zygmunt Jamrozik
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/01/2016
- Field of study
No full textObjective: 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. ClinicalTrials.gov identifier: NCT01590589
