دورية أكاديمية

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

التفاصيل البيبلوغرافية
العنوان: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
المؤلفون: Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, PREDICT HD study of the Huntington Study Group, Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, HD MAPS Study Group, MacDonald ME, Gusella JF, COHORT study of the H.S.G. CollaboratorsDurr A, Rosenblatt A, Frati L, Perlman S, Conneally PM, Klimek ML, Diggin M, Hadzi T, Duckett A, Ahmed A, Allen P, Ames D, Anderson C, Anderson K, Andrews T, Ashburner J, Axelson E, Aylward E, Barker RA, Barth K, Barton S, Baynes K, Bea A, Beall E, Beg MF, Beglinger LJ, Biglan K, Bjork K, Blanchard S, Bockholt J, Bommu SR, Brossman B, Burrows M, Calhoun V, Carlozzi N, Chesire A, Chiu E, Chua P, Connell RJ, Connor C, Corey Bloom J, Craufurd D, Cross S, Cysique L, Santos RD, Davis J, Decolongon J, DiPietro A, Doucette N, Downing N, Dudler A, Dunn S, Ecker D, Epping EA, Erickson D, Erwin C, Evans K, Factor SA, Farias S, Fatas M, Fiedorowicz J, Fullam R, Furtado S, Garde MB, Gehl C, Geschwind MD, Goh A, Gooblar J, Goodman A, Griffith J, Groves M, Guttman M, Hamilton J, Harrington D, Harris G, Heaton RK, Helmer K, Henneberry M, Hershey T, Herwig K, Howard E, Hunter C, Jankovic J, Johnson H, Johnson A, Jones K, Juhl A, Kim EY, Kimble M, King P, Klöppel S, Koenig K, Komiti A, Kumar R, Langbehn D, Leavitt B, Leserman A, Lim K, Lipe H, Lowe M, Magnotta VA, Mallonee WM, Mans N, Marietta J, Marshall F, Martin W, Mason S, Matheson K, Matson W, Mazzoni P, McDowell W, Miedzybrodzka Z, Miller M, Mills J, Miracle D, Montross K, Moore D, Mori S, Moser DJ, Moskowitz C, Newman E, Nopoulos P, Novak M, O'Rourke J, Oakes D, Ondo W, Orth M, Panegyres P, Pease K, Perlmutter J, Peterson A, Phillips M, Pierson R, Potkin S, Preston J, Quaid K, Radtke D, Rae D, Rao S, Raymond L, Reading S, Ready R, Reece C, Reilmann R, Reynolds N, Richardson K, Rickards H, Ro E, Robinson R, Rodnitzky R, Rogers B, Rosser E, Rosser A, Price K, Ryan P, Salmon D, Samii A, Schumacher J, Sendon JL, Shear P, Sheinberg A, Shpritz B, Siedlecki K, Simpson SA, Singer A, Smith J, Smith M, Smith G, Snyder P, Song A, Sran S, Stephan K, Stober J, Sümuth S, Suter G, Tabrizi S, Tempkin T, Testa C, Thompson S, Thomsen T, Thumma K, Toga A, Trautmann S, Tremont G, Tupper D, Turner J, Uc E, Vaccarino A, van Duijn E, Van Walsem M, Vik S, Vonsattel JP, Vuletich E, Warner T, Wasserman P, Wassink T, Waterman E, Weaver K, Weir D, Welsh C, Werling Witkoske C, Wesson M, Westervelt H, Weydt P, Wheelock V, Williams K, Williams J, Wodarski M, Wojcieszek J, Wood J, Wood Siverio C, Wu S, Yastrubetskaya O, de Yebenes JG, Zhao YQ, Zimbelman J, Zschiegner R, Aaserud O, Abbruzzese G, Andrich J, Antczak J, Arran N, Artiga MJ, Bachoud Lévi A, Banaszkiewicz K, di Poggio MB, Bandmann O, Barbera MA, Barrero F, Bas J, Beister A, Bentivoglio AR, Bertini E, Biunno I, Bjørgo K, Bjørnevoll I, Bohlen S, Bonelli RM, Bos R, Bourne C, Bradbury A, Brockie P, Brown F, Bruno S, Bryl A, Buck A, Burg S, Burgunder JM, Burns P, Burrows L, Busquets N, Busse M, Calopa M, Carruesco GT, Casado AG, Catena JL, Chu C, Ciesielska A, Clapton J, Clayton C, Clenaghan C, Coelho M, Connemann J, Crooks J, Cubillo PT, Cubo E, Curtis A, De Nicola A, de Souza J, de Weert A, de Yébenes JG, Dekker M, Descals A, Di Maio L, Di Pietro A, Dipple H, Dose M, Dumas EM, Dunnett S, Elifani F, Ellison Rose L, Elorza MD, Eschenbach C, Evans C, Fairtlough H, Fannemel M, Fasano A, Fenollar M, Ferrandes G, Ferreira JJ, Fillingham K, Finisterra AM, Fisher K, Fletcher A, Foster J, Foustanos I, Frech FA, Fullham R, Gago M, García RG, García SS, Garrett C, Gellera C, Gill P, Ginestroni A, Golding C, Gørvell P, Grant J, Griguoli A, Gross D, Guedes L, BascuñanaGuerra M, Guerra MR, Guerrero R, Guia DB, Guidubaldi A, Hallam C, Hamer S, Hammer K, Handley OJ, Harding A, Hasholt L, Hedge R, Heiberg A, Heinicke W, Held C, Hernanz LC, Herranhof B, Herrera CD, Hidding U, Hiivola H, Hill S, Hjermind LE, Hobson E, Hoffmann R, Holl AH, Howard L, Hunt S, Huson S, Ialongo T, Idiago JM, Illmann T, Jachinska K, Jacopini G, Jakobsen O, Jamieson S, Jamrozik Z, Janik P, Johns N, Jones L, Jones U, Jurgens CK, Kaelin A, Kalbarczyk A, Kershaw A, Khalil H, Kieni J, Klimberg A, Koivisto SP, Koppers K, Kosinski CM, Krawczyk M, Kremer B, Krysa W, Kwiecinski H, Lahiri N, Lambeck J, Lange H, Laver F, Leenders KL, Levey J, Leythaeuser G, Lezius F, Llesoy JR, Löhle M, López CD, Lorenza F, Loria G, Magnet M, Mandich P, Marchese R, Marcinkowski J, Mariotti C, Mariscal N, Markova I, Marquard R, Martikainen K, Martínez IH, Martínez Descals A, Martino T, McKenzie S, Mechi C, Mendes T, Mestre T, Middleton J, Milkereit E, Miller J, Minster S, Möller JC, Monza D, Morales B, Moreau LV, Moreno JL, Münchau A, Murch A, Nielsen JE, Niess A, Nørremølle A, O'Donovan K, Otti D, Owen M, Padieu H, Paganini M, Painold A, Päivärinta M, Partington Jones L, Paterski L, Paterson N, Patino D, Patton M, Peinemann A, Peppa N, Perea MF, Peterson M, Piacentini S, Piano C, Pons i. Càrdenas R, Prehn C, Probst D, Quarrell O, Quiroga PP, Raab T, Rakowicz M, Raman A, Reinante G, Reisinger K, Retterstøl L, Ribaï P, Riballo AV, Ribas GG, Richter S, Rinaldi C, Rissling I, Ritchie S, Rivera SV, Robert MF, Roca E, Romano S, Romoli AM, Roos RA, Røren N, Rose S, Rossi F, Rothery J, Rudzinska M, Ruíz PJ, Ruíz BG, Russo CV, Ryglewicz D, Saft C, Sánchez V, Sando SB, Šašinková P, Sass C, Scheibl M, Schiefer J, Schlangen C, Schmidt S, Schöggl H, Schrenk C, Schüpbach M, Schuierer M, Sebastián AR, Selimbegovic Turkovic A, Sempolowicz J, Silva M, Sitek E, Slawek J, Snowden J, Soleti F, Soliveri P, Sollom A, Soltan W, Sorbi S, Sørensen SA, Spadaro M, Städtler M, Stamm C, Steiner T, Stokholm J, Stokke B, Stopford C, Storch A, Straßburger K, Stubbe L, Sulek A, Szczudlik A, Taylor R, Terol SD, Thomas G, Thompson J, Thomson A, Tidswell K, Torres MM, Toscano J, Townhill J, Tucci T, Tuuha K, Uhrova T, Valadas A, van Hout MS, van Oostrom JC, van Vugt JP, van Walsem MR, Vandenberghe W, Verellen Dumoulin C, Vergara MR, Verstappen CC, Verstraelen N, Viladrich CM, Villanueva C, Wahlström J, Wehus R, Weindl A, Werner CJ, Westmoreland L, Wiedemann A, Wild E, Wild S, Witjes Ané MN, Witkowski G, Wójcik M, Wolz M, Wolz A, Wright J, Yardumian P, Yates S, Yudina E, Zaremba J, Zaugg SW, Zdzienicka E, Zielonka D, Zielonka E, Zinzi P, Zittel S, Zucker B, Adams J, Agarwal P, Antonijevic I, Beck C, Churchyard A, Colcher A, Dorsey R, Drazinic C, Dubinsky R, Duff K, Factor S, Foroud T, Giuliano J, Greenamyre T, Higgins D, Jennings D, Kang UJ, Kostyk S, LeDoux M, Mallonee W, Mohlo E, Morgan J, Panisset M, Revilla F, Robertson S, Robottom B, Sanchez Ramos J, Scott B, Shannon K, Shoulson I, Singer C, Tabbal S, van Kammen D, Vetter L, Walker F, Warner J, Weiner W, Broyles J, Clouse R, Coleman A, Davis R, DeLaRosa J, Deuel L, Dietrich S, Dubinsky H, Eaton K, Fitzpatrick MJ, Frucht S, Gartner M, Goldstein J, Hickey C, Hunt V, Jaglin J, Lindsay P, Louis E, Loy C, Lucarelli N, Malarick K, Martin A, McInnis R, Muratori L, Nucifora F, O'Neill C, Palao A, Peavy G, Quesada M, Schmidt A, Segro V, Sperin E, Tanev K, Thiede C, Zauber E., DE MICHELE, GIUSEPPE, SALVATORE, ELENA
المساهمون: Lee, Jm, Ramos, Em, Lee, Jh, Gillis, T, Mysore, J, Hayden, Mr, Warby, Sc, Morrison, P, Nance, M, Ross, Ca, Margolis, Rl, Squitieri, F, Orobello, S, Di Donato, S, Gomez Tortosa, E, Ayuso, C, Suchowersky, O, Trent, Rj, Mccusker, E, Novelletto, A, Frontali, M, Jones, R, Ashizawa, T, Frank, S, Saint Hilaire, Mh, Hersch, Sm, Rosas, Hd, Lucente, D, Harrison, Mb, Zanko, A, Abramson, Rk, Marder, K, Sequeiros, J, Paulsen, J, PREDICT HD study of the Huntington Study Group, Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, HD MAPS Study, Group, Macdonald, Me, Gusella, Jf, CollaboratorsDurr A, COHORT study of the H. S. G., Rosenblatt, A, Frati, L, Perlman, S, Conneally, Pm, Klimek, Ml, Diggin, M, Hadzi, T, Duckett, A, Ahmed, A, Allen, P, Ames, D, Anderson, C, Anderson, K, Andrews, T, Ashburner, J, Axelson, E, Aylward, E, Barker, Ra, Barth, K, Barton, S, Baynes, K, Bea, A, Beall, E, Beg, Mf, Beglinger, Lj, Biglan, K, Bjork, K, Blanchard, S, Bockholt, J, Bommu, Sr, Brossman, B, Burrows, M, Calhoun, V, Carlozzi, N, Chesire, A, Chiu, E, Chua, P, Connell, Rj, Connor, C, Corey Bloom, J, Craufurd, D, Cross, S, Cysique, L, Santos, Rd, Davis, J, Decolongon, J, Dipietro, A, Doucette, N, Downing, N, Dudler, A, Dunn, S, Ecker, D, Epping, Ea, Erickson, D, Erwin, C, Evans, K, Factor, Sa, Farias, S, Fatas, M
سنة النشر: 2012
المجموعة: IRIS Università degli Studi di Napoli Federico II
مصطلحات موضوعية: Adult, Age of Onset, Alleles, Female, Genotype, Humans, Huntington Disease, diagnosis/genetics, Male, Trinucleotide Repeat Expansion
الوصف: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.We modeled natural log-transformed age at onset as a function of CAG repeat lengths of expanded and normal alleles and their interaction by linear regression.An apparently significant effect of interaction on age at motor onset among 4,068 subjects was dependent on a single outlier data point. A rigorous statistical analysis with a well-behaved dataset that conformed to the fundamental assumptions of linear regression (e.g., constant variance and normally distributed error) revealed significance only for the expanded CAG repeat, with no effect of the normal CAG repeat. Ten subjects with 2 expanded alleles showed an age at motor onset consistent with the length of the larger expanded allele.Normal allele CAG length, interaction between expanded and normal alleles, and presence of a second expanded allele do not influence age at onset of motor manifestations, indicating that the rate of HD pathogenesis leading to motor diagnosis is determined by a completely dominant action of the longest expanded allele and as yet unidentified genetic or environmental factors.
نوع الوثيقة: article in journal/newspaper
وصف الملف: ELETTRONICO
اللغة: unknown
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22323755; info:eu-repo/semantics/altIdentifier/wos/WOS:000301236400004; volume:78; firstpage:690; lastpage:695; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11588/483750Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858074593
DOI: 10.1212/WNL.0b013e318249f683
الإتاحة: https://doi.org/10.1212/WNL.0b013e318249f683Test
http://hdl.handle.net/11588/483750Test
رقم الانضمام: edsbas.C9E42A69
قاعدة البيانات: BASE