Clinical manifestations of intermediate allele carriers in Huntington disease

التفاصيل البيبلوغرافية
العنوان:	Clinical manifestations of intermediate allele carriers in Huntington disease
المؤلفون:	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, 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, 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, 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, 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, Schepers, S, Weber, N, Bachmeier, M, Dose, M, Hofstetter, N, Marquard, R, Mühlbäck, A, Buck, A, Connemann, J, Geitner, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, 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, MICHELA, MARROSU, FRANCESCO, Muroni, A, PIRAS, VALERIA, VACCA, MELISA IRIS SABINA, 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, van Hout, Ms, van Vugt, Jp, Marit de Weert, A, Verhoeven, M, van den Bogaard, Sj, Dumas, Em, 't Hart, Ep, Jacobs, M, Kampstra, A, Schoonderbeek, A, Aanonsen, No, Aaserud, O, Barnett, L, Bjørgo, K, Borgerød, N, Dramstad, E, Fannemel, M, Frich, J, Gundersen, H, Gørvell, P, Haggag, K, Johannessen, Ch, Retterstøl, L, Rosby, O, Rummel, J, Sikiric, A, Solberg, O, van Walsem, M, Wehus, R, Dziadkiewicz, A, Konkel, A, Narożańska, E, 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, 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, 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, Zdzienicka, E, Ziora Jakutowicz, K, Januário, C, Júlio, F, Salgueiro, A, 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, 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, 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, Feliz, Cf, José García Ruíz, P, García, A, 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, 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, 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, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, 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, Lewis, M, Novak, M, Patel, A, Read, J, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Craufurd, D, Hare, M, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington Jones, L, 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, Quarrell, O, Tidswell, K, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M.
المساهمون:	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, 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, 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, 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
سنة النشر:	2016
المجموعة:	Università degli Studi di Cagliari: UNICA IRIS
مصطلحات موضوعية:	Medicine (all), Neurology (clinical)
الوصف:	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. ClinicalTrials.gov identifier: NCT01590589.
نوع الوثيقة:	article in journal/newspaper
اللغة:	English
العلاقة:	info:eu-repo/semantics/altIdentifier/pmid/27402890; info:eu-repo/semantics/altIdentifier/wos/WOS:000382327000010; volume:87; issue:6; firstpage:571; lastpage:578; numberofpages:8; journal:NEUROLOGY; http://hdl.handle.net/11584/200103Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84981229249; http://www.neurology.orgTest
DOI:	10.1212/WNL.0000000000002944
الإتاحة:	https://doi.org/10.1212/WNL.0000000000002944Test http://hdl.handle.net/11584/200103Test http://www.neurology.orgTest
حقوق:	info:eu-repo/semantics/closedAccess
رقم الانضمام:	edsbas.19C86520
قاعدة البيانات:	BASE

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الوصف
DOI:	10.1212/WNL.0000000000002944