Clinical manifestations of intermediate allele carriers in Huntington disease.

Esther Cubo, María A. Ramos-Arroyo, Saul Martinez-Horta, Asunción Martínez-Descalls, Sara Calvo, Cecilia Gil-Polo
Neurology. 2016-07-08; : 10.1212/WNL.0000000000002944
DOI: 10.1212/wnl.0000000000002944

PubMed
Lire sur PubMed



1. Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944. Epub 2016
Jul 8.

Clinical manifestations of intermediate allele carriers in Huntington disease.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo
C; European HD Network.

Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder
JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer GB,
Levey J, Ramos-Arroyo M, Nielsen JE, Koivisto SP, Päivärinta M, Roos RA,
Sebastián AR, Tabrizi SJ, Vandenberghe W, Verellen-Dumoulin C, Uhrova T,
Wahlström J, Zaremba J, Baake V, Barth K, Come A, Guedes LC, Finisterra AM, Garde
MB, Bos R, Betz S, Callaghan J, Capodarca S, Charpentier S, Vieira da Silva W, Di
Renzo M, Ecker D, Fullam R, Genoves C, Gilling M, Handley OJ, Hvalstedt C, Held
C, Horta-Barba A, Koppers K, Lamanna C, Laurà M, Descals AM, Martinez-Horta S,
Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Padieu H, Paterski L, Peppa N,
Koivisto SP, Rindal B, Rogers D, Røren N, Šašinková P, Seliverstov Y, Taylor C,
Timewell E, Townhill J, Cubillo PT, van Walsem MR, Witjes-Ané MN, Witkowski G,
Wright A, Yudina E, Zielonka D, Zielonka E, Zinzi P, Minet C, Ribaï P, Van Paemel
D, Verellen-Dumoulin C, Hjermind L, Jacobsen O, Lindquist S, Nielsen J, Regeur L,
Stockholm J, Larsen IU, Vangsted-Hansen C, Vinther-Jensen T, Eklund P, Hiivola H,
Hypponen H, Martikainen K, Tuuha K, Allain P, Marie Bost DB, Gohier B, Guérid MA,
Olivier A, Prouzet J, Prundean A, Scherer-Gagou C, Verny C, Babiloni B,
Debruxelles S, Duché C, Goizet C, Jameau L, Lafoucrière D, Spampinato U,
Bachoud-Lévi AC, Badei F, Boudali L, Bourdet C, Cléret L, Couette M, Focseneanu
C, Lemoine L, Morgado G, Sebaiti M, Thiriez C, Vervoitte L, Youssov K, Azulay JP,
Chabot C, Delfini M, Eusebio A, Fluchere F, Garreau C, Ghenam A, Grosjean H,
Mundler L, Nowak M, Raseta R, Bertrand M, Calvas F, Cheriet S, Marquine L, Pierre
M, Pariente J, Rolland S, Seris A, Vaquie V, Kosinski CM, Milkereit E, Probst D,
Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Ellrichmann G, Herrmann L,
Hoffmann R, Kaminski B, Saft C, Boelmans K, Ganos C, Goerendt I, Heinicke W,
Hidding U, Lewerenz J, Münchau A, Orth M, Schmalfeld J, Stubbe L, Zittel S,
Diercks G, Dressler D, Francis F, Gayde-Stephan S, Gorzolla H, Kramer B, Minschke
R, Schrader C, Tacik P, Bechtel N, Beckmann H, Bohlen S, Göpfert N, Hölzner E,
Lange H, Reilmann R, Rohm S, Rumpf S, Sass C, Schepers S, Weber N, Bachmeier M,
Dose M, Hofstetter N, Marquard R, Mühlbäck A, Barth K, Buck A, Connemann J, Ecker
D, Geitner C, Held C, Kesse A, Landwehrmeyer B, Lezius F, Lewerenz J, Nepper S,
Niess A, Orth M, Schneider A, Schwenk D, Süssmuth S, Trautmann S, Weydt P, Klebe
S, Musacchio T, Leypold C, Nöth K, Cormio C, de Tommaso M, Dellomonaco AR,
Difruscolo O, Franco G, Sciruicchio V, Serpino C, Figorilli M, Marrosu F, Muroni
A, Piras V, Vacca M, Bartoli C, Bertini E, Fortunato F, Ghelli E, Ginestroni A,
Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, De Michele G,
Di Maio L, Rinaldi C, Massarelli M, Peluso S, Roca A, Russo CV, Sorrentino P,
Salvatore E, Tucci T, Cannella M, Codella V, De Gregorio F, De Nicola A, Elifani
F, Martino T, Lovo F, Mazzante I, Petrollini M, Simonelli M, Squitieri F, Vezza
M, D’Alessio B, Esposito C, Coarelli G, Ferraldeschi M, Frontali M, Jacopini G,
Ristori G, Romano S, Zinzi P, van Hout MS, van Vugt JP, Marit de Weert A,
Verhoeven M, Baake V, van den Bogaard SJ, Bos R, Dumas EM, ‘t Hart EP, Jacobs M,
Kampstra A, Roos RA, Schoonderbeek A, Aanonsen NO, Aaserud O, Barnett L, Bjørgo
K, Borgerød N, Dramstad E, Fannemel M, Frich J, Gundersen H, Gørvell P, Haggag K,
Heiberg A, Johannessen CH, Retterstøl L, Rosby O, Rummel J, Sikiric A, Solberg O,
van Walsem M, Wehus R, Dziadkiewicz A, Konkel A, Narożańska E, Nowak M, Robowski
P, Sitek E, Slawek J, Soltan W, Szinwelski M, Arkuszewski M, Błaszczyk M,
Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasińska-Myga B, Kaczmarczyk
A, Kłodowska-Duda G, Opala G, Rudzińska M, Stompel D, Banaszkiewicz K, Boćwińska
D, Bojakowska-Jaremek K, Dec M, Grabska N, Krawczyk M, Kubowicz E,
Malec-Litwinowicz M, Rudzińska M, Stenwak A, Szczudlik A, Szczygieł E, Wójcik M,
Wasielewska A, Anna Bryl JA, Ciesielska A, Klimberg A, Marcinkowski J, Samara H,
Sempołowicz J, Wiśniewski B, Zielonka D, Gogol A, Janik P, Jamrozik Z, Kaminska
A, Kwiecinski H, Antczak J, Jachinska K, Krysa W, Rakowicz M, Richter P, Rola R,
Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Sułek A, Witkowski G, Zaremba J,
Zdzienicka E, Ziora-Jakutowicz K, Januário C, Júlio F, Guedes LC, Ferreira JJ,
Finisterra AM, Salgueiro A, Mestre T, Coelho M, Mendes T, Rosa MM, Valadas A,
Semedo C, Calado A, Morgado J, Dias M, Almeida M, Herrera CD, Moreno PG, Bas J,
Busquets N, Calopa M, Classen SJ, Dedichá NR, Barbera MA, Sebastián AR, Pardo SA,
Guia DB, Calzado N, Hernanz LC, Tartari Díaz-Zorita JP, Catena JL, Ferrer PQ,
Carruesco GT, Robert MF, Viladrich CM, Roca E, Ruiz Idiago JM, Riballo AV,
Campolongo A, Fernandez de Bobadilla R, Bojarsky JK, Martinez-Horta S,
Pagonabarraga J, Perez JP, Villa C, Acera Gil MA, Corrales KB, Gomez Esteban JC,
González A, Merino BT, Cubo E, Mariscal N, Romero SG, Arbelo JM, Malo de Molina
R, Martín I, Periañez JM, Udaeta B, Alonso-Frech F, Frades B, Villanueva MÁ, Zea
Sevilla MA, Frech FA, Fenollar Mdel M, García-Ramos García R, Villanueva C,
Bascuñana M, Ventura MF, Caldentey JG, Ribas GG, García de Yébenes J,
López-Sendón Moreno JL, Barral VM, Cubillo PT, Feliz CF, José García Ruíz P,
García A, Caldentey JG, López RG, Bárcenas AH, Martínez-Descals A, Pueyo AM,
Martin VP, Martínez NR, José Sainz Artiga M, Sánchez V, Fernandez Jdel V, Almagro
CA, Manzanares S, Muñoz JM, Antequera Torres MM, Perea FN, Moreau LV, González S,
Guisasola LM, Salvador C, Ribacoba R, Lozano PS, Prieto MP, Caldentey JG, Gorospe
A, Ramirez IL, Arques PN, Lopera MR, Pastor BV, Gaston I, Ramos-Arroyo MA,
Martinez-Jaurrieta MD, García Moreno JM, Lucena CM, Peña JC, Hermoso FD,
Cortegana EP, Redondo L, Fernandez CM, Mata MP, Romero Lemos MD, Bosca M,
Burguera JA, Brugada Carmen Peiró Vilaplana FC, Diago EB, López Del Val J,
Martinez LM, López E, Berglund P, Constantinescu R, Fredlund G, Høsterey-Ugander
U, Neleborn-Lingefjärd L, Wahlström J, Burgunder JM, Stebler Y, Kaelin A, Romero
I, Schüpbach M, Zaugg SW, Downie L, Jack R, Matheson K, Miedzybrodzka Z, Rae D,
Simpson SA, Summers F, Ure A, Vaughn V, Akhtar S, Crooks J, Curtis A, de Souza J,
Piedad J, Rickards H, Wright J, Coulthard E, Gethin L, Hayward B, Sieradzan K,
Wright A, Busse M, Butcher C, Callaghan J, Dunnett S, Clenaghan C, Fullam R, Hunt
S, Jones L, Jones U, Khalil H, Minster S, Owen M, Price K, Townhill J, Rosser A,
Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Andrew A,
Frost J, Noad R, Cosgrove J, Gallantree D, Hamer S, Hobson E, Jamieson S, Kraus
A, Longthorpe M, Markova I, Musgrave H, Peacy C, Raman A, Rowett L, Toscano J,
Wild S, Clayton C, Yardumian P, Dipple H, Patino DF, Hallam C, Middleton J, Anjum
U, Coebergh J, Eddy C, Lahiri N, McEntagart M, Patton M, Peterson M, Rose S,
Andrews T, Brown S, Bruno S, Chu E, Doherty K, Golding C, Haider S, Hensman D,
Lahiri N, Lewis M, Novak M, Patel A, Read J, Robertson N, Rosser E, Tabrizi S,
Taylor R, Warner T, Wild E, Arran N, Bek J, Callaghan J, Craufurd D, Fullam R,
Hare M, Howard L, Huson S, Johnson L, Jones M, Krishnamoorthy A, Murphy H,
Oughton E, Partington-Jones L, Rogers D, Sollom A, Snowden J, Stopford C,
Thompson J, Trender-Gerhard I, Verstraelen N, Westmoreland L, Cass G, Davidson L,
Davison J, Fullerton N, Holmes K, Komati S, McDonnell S, Mohammed Z, Morgan K,
Savage L, Singh B, Wood J, Nemeth AH, Siuda G, Valentine R, Dixon K, Armstrong R,
Harrison D, Hughes M, Large S, Donovan JO, Palmer A, Parkinson A, Soltysiak B,
Timings L, Williams J, Bandmann O, Bradbury A, Fairtlough H, Fillingham K,
Foustanos I, Gill P, Kazoka M, O’Donovan K, Nevitt L, Peppa N, Quarrell O, Taylor
C, Tidswell K, O’Donovan K, Gowers L, Powell K, Bethwaite P, Edwards R, Fuller K,
Phillips M.

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

Auteurs Bordeaux Neurocampus