High and low levels of an NTRK2-driven genetic profile affect motor- and cognition-associated frontal gray matter in prodromal Huntington’s disease

Autor: Ciarochi, JA, Liu, J, Calhoun, V, Johnson, H, Misiura, M, Bockholt, HJ, Espinoza, FA, Caprihan, A, Plis, S, Turner, JA, Paulsen, JS, Long, JD, Johnson, HJ, Brashers-Krug, T, Danzer, P, Miller, A, Montross, K, Harrington, D, Westervelt, H, Aylward, E, Rao, S, Moser, DJ, Williams, J, Downing, N, Magnotta, VA, Vaidya, J, O Leary, D, Kim, EY, Kim, JI, Lourens, S, Zhang, Y, Lu, W, Erwin, C, Nance, M, Evans, J, Zschiegner, R, Chiu, E, Loi, S, Chua, P, Raymond, L, Ross, CA, Mallonee, WM, Samii, A, Jones, R, Barker, RA, McCusker, E, Loy, C, Orth, M, Süßmuth, S, Quaid, K, Guttman, M, Perlman, S, Geschwind, MD, Sha, S, Warner, T, Rosser, A, Marshall, F, Panegyres, P, Lee, J, Perlmutter, J, Miedzybrodzka, Z, Craufurd, D, Mazzoni, P, Marder, K, Kumar, R, Wheelock, V, Martin, W, Suchowersky, O, Ahmed, A, De Soriano, I, Shadrick, C, Preston, J, Goh, A, Antonopoulos, S, Komiti, A, Decolongon, J, Fan, M, Coleman, A, Varvaris, M, Ong, M, Yoritomo, N, Suter, G, Freney, EP, Macaraeg, A, Wood-Siverio, C, Factor, SA, Mason, S, Guzman, NV, Griffith, J, McMillan, J

This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington’s disease (HD). Parallel independent component analysis (pICA)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33155136ae8c0931d45a171af69ae26
https://www.repository.cam.ac.uk/handle/1810/285331

Intra-individual variability in prodromal Huntington disease and its relationship to genetic burden

Autor: Musso, M, Westervelt, HJ, Long, JD, Morgan, E, Woods, SP, Smith, MM, Lu, W, Paulsen, JS, Cross, S, Ryan, P, Epping, EA, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, Gunn, D, Orth, M, Süßmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Suchowersky, O, Martin, W, King, P, Wieler, M, Sran, S, Ahmed, A, Rao, S, Reece, C

Publikováno v: Musso, M; Westervelt, HJ; Long, JD; Morgan, E; Woods, SP; Smith, MM; et al.(2015). Intra-individual variability in prodromal Huntington disease and its relationship to genetic burden. Journal of the International Neuropsychological Society, 21(1), 8-21. doi: 10.1017/S1355617714001076. UCSF: Retrieved from: http://www.escholarship.org/uc/item/64s52036

© INS. The International Neuropsychological Society 2015. The current study sought to examine the utility of intra-individual variability (IIV) in distinguishing participants with prodromal Huntington disease (HD) from nongene-expanded controls. IIV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::d23dd8c8fac0e24327ed3d3840ecf159
http://www.escholarship.org/uc/item/64s52036

Prefrontal cortex white matter tracts in prodromal Huntington disease

Autor: Matsui, JT, Vaidya, JG, Wassermann, D, Kim, RE, Magnotta, VA, Johnson, HJ, Paulsen, JS, Isabella De Soriano, Shadrick, C, Miller, A, Edmond Chiu, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Lynn Raymond, Decolongon, J, Fan, M, Coleman, A, Christopher, AR, Varvaris, M, Ong, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Freney, EP, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, McMillan, J, Gunn, D, Orth, M, Sübmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Law, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Winer, J, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, Vaughan, V, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Reeves, C, Nickels, B, Wheelock, V, Kjer, L, Martin, A

Publikováno v: Matsui, JT; Vaidya, JG; Wassermann, D; Kim, RE; Magnotta, VA; Johnson, HJ; et al.(2015). Prefrontal cortex white matter tracts in prodromal Huntington disease. Human Brain Mapping, 36(10), 3717-3732. doi: 10.1002/hbm.22835. UCSF: Retrieved from: http://www.escholarship.org/uc/item/3dg2h93m

© 2015 Wiley Periodicals, Inc. Huntington disease (HD) is most widely known for its selective degeneration of striatal neurons but there is also growing evidence for white matter (WM) deterioration. The primary objective of this research was to cond

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::d502ca7b136af3c9215810e454eb1029
http://www.escholarship.org/uc/item/3dg2h93m

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

Autor: Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska Jedynak M, Ciach Wysocka E, Gorzkowska A, Jasinska Myga B, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, Quarrell O

Publikováno v: PLoS ONE

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c407bab6eadd71127c056c56a71761ae
http://hdl.handle.net/11573/559252

Tracking motor impairments in the progression of Huntington's disease

Autor: Long, JD, Paulsen, JS, Marder, K, Zhang, Y, Kim, JI, Mills, JA, Cross, S, Ryan, P, Epping, EA, Vik, S, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, Gunn, D, Orth, M, Sübmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Law, A, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Wasserman, P, Kumar, R, Erickson, D, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Martin, W, King, P, Wieler, M, Sran, S, Suchowersky, O, Ahmed, A, Rao, S, Reece, C, Bura, A, Mourany, L

Publikováno v: Long, JD; Paulsen, JS; Marder, K; Zhang, Y; Kim, JI; Mills, JA; et al.(2014). Tracking motor impairments in the progression of Huntington's disease. Movement Disorders, 29(3), 311-319. doi: 10.1002/mds.25657. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/80t8h207

The Unified Huntington's Disease Rating Scale is used to characterize motor impairments and establish motor diagnosis. Little is known about the timing of diagnostic confidence level categories and the trajectory of motor impairments during the prodr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::53c2d62e6c0a004c8f62160207857f17
http://www.escholarship.org/uc/item/80t8h207