High-Tc superconductors toward small scale applications

This chapter discusses the applications of high-Tc superconductors (HTS), where Tc is the critical transition temperature between the superconductive and nonsuperconductive states. Various techniques for vortex visualization have also been proposed in the chapter. HTSs are layered materials and therefore anisotropic. This anisotropy depends on the fact that HTS materials are quasi-2D: CuO planes, with quasi-metallic conduction, separated by quasi-insulating blocking layers give the basic contribution to the superconductivity. The layered conductor is close to the metal-insulator transition so that any slight change in growing conditions as well as any extrinsic nanometric perturbation yields insulating zones in the CuO planes. The crystallographic structures are held together by electrons that form ionic or covalent bonds among the atoms. This property is usually considered a bad property, not only for the unwanted effects of these insulating plaques but also for the anisotropy aspect

Clinical manifestations of intermediate allele carriers in Huntington disease

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

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.

none642sinoneOrth M, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB, Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli R, Burgunder JM, Dunnett SB, Ferreira JJ, Giuliano J, Handley OJ, Heiberg A, Illmann T, van Kammen D, Landwehrmeye GB, Levey J, Nielsen JE, Päivärinta M, Roos RA, Sebastián AR, Tabrizi SJ, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Schwenke C, Orth M, Illmann T, Wallner M, Barth K, Guedes LC, Finisterra AM, Garde MB, Bos R, Burg S, Ecker D, Handley OJ, Held C, Koppers K, Laurà M, Descals AM, McLean T, Mestre T, Minster S, Monza D, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Koivisto SP, Rialland A, Røren N, Sasinková P, Cubillo PT, Tritsch C, van Walsem MR, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, 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, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Mair K, Poewe W, Wolf E, Zangerl A, Braunwarth EM, Lilek S, Sinadinosa D, Walleczek AM, Bonelli RM, Ladurner G, Staffen W, Ribaï P, Verellen-Dumoulin C, Flamez A, Morez V, de Raedt S, Boogaerts A, Vandenberghe W, van Reijen D, Klempíř J, Kucharík M, Roth J, Šenkárová Z, Hasholt L, Hjermind LE, Jakobsen O, Nørremølle A, Sørensen SA, Stokholm J, Nielsen J, Hiivola H, Martikainen K, Tuuha K, Peippo M, Sipponen M, Ignatius J, Kärppä M, Åman J, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Babiloni B, Debruxelles S, Goizet C, Lafoucrière D, De Bruycker C, Carette AS, Decorte E, Delval A, Delliaux M, Dujardin K, Peter M, Plomhouse L, Simonin C, Thibault-Tanchou S, Bellonet M, Duru C, Krystkowiak P, Roussel M, Wannepain S, Azulay JP, Chabot C, Delphini M, Eusebio A, Grosjean H, Mundler L, Nowak M, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Calvas F, Cheriet S, Démonet JF, Galitzky M, Kosinski CM, Milkereit E, Probst D, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüss H, Spruth EJ, Andrich J, Hoffmann R, Kraus PH, Muth S, Prehn C, Saft C, Salmen S, Stamm C, Steiner T, Strassburger K, Lange H, Friedrich A, Hunger U, Löhle M, Schmidt S, Storch A, Wolz A, Wolz M, Lambeck J, Zucker B, Boelmans K, Ganos C, Hidding U, Lewerenz J, Münchau A, Orth M, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Gorzolla H, Schrader C, Heinicke W, Ribbat M, Longinus B, Bürk K, Möller JC, Rissling I, Peinemann A, Städtler M, Weindl A, Bechtel N, Beckmann H, Bohlen S, Hölzner E, Lange H, Reilmann R, Rohm S, Rumpf S, Schepers S, Beister A, Dose M, Hammer K, Kieni J, Leythaeuser G, Marquard R, Raab T, Richter S, Selimbegovic-Turkovic A, Schrenk C, Schuierer M, Wiedemann A, Barth K, Buck A, Connemann J, Ecker D, Eschenbach C, Held C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Orth M, Süssmuth S, Trautmann S, Weydt P, Cormio C, Difruscolo O, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, 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, Monza D, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Rinaldi C, Russo CV, Salvatore E, Tucci T, Cannella M, Codella V, De Gregorio F, De Nicola N, Martino T, Simonelli M, Squitieri F, Bentivoglio AR, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Modoni A, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, Zinzi P, van Hout MS, van Vugt JP, de Weert AM, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Bos R, Dumas EM, Jurgens CK, van den Bogaard SJ, Roos RA, 't Hart EP, Witjes-Ané MN, Kremer B, Verstappen CC, Heiberg A, van Walsem MR, Frich J, Wehus R, Aaserud O, Borgerød N, Bjørgo K, Fannemel M, Gørvell P, Pro Koivisto S, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Blinkenberg EØ, Hauge E, Tyvoll H, Sitek E, Slawek J, Soltan W, Boczarska-Jedynak M, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Banaszkiewicz K, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Zielonka D, Samara H, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Jachinska K, Rakowicz M, Richter P, Ryglewicz D, Witkowski G, Zdzienicka E, Zaremba J, Sułek A, Krysa W, Júlio F, Januário C, Mestre T, Guedes L, Coelho M, Mendes T, Valadas A, Ferreira JJ, Timóteo Â, Costa C, Vale J, Cavaco S, Damásio J, Magalhães M, Gago M, Garrett C, Guerra MR, Solis P, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Bascuñana M, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Cubillo PT, Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Perea MF, Lorenza F, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Buongiorno MT, Muñoz E, Elorza MD, López CD, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Pons i Càrdenas R, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Villa Riballo A, González SG, Guisasola LM, Salvador C, San Martín ES, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Ramos-Arroyo MA, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Martínez LM, del Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Höglund A, Pålhagen SE, Paucar M, Sandström B, Soltani R, Svenningsson P, Reza-Soltani TW, Constantinescu R, Fredlund G, Høsterey-Ugander U, Neleborn-Lingefjärd L, Wahlström J, Esmaeilzadeh M, Tedroff J, Winnberg E, Björn Y, Ekwall C, Gøller ML, Johansson A, Wiklund L, Petersen Å, Reimer J, Widner H, Burgunder JM, Burgunder Y, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Jack R, Matheson K, Miedzybrodzka Z, Rae D, Simpson S, Summers F, Ure A, Crooks J, Curtis A, de Souza Keylock J, Rickards H, Wright J, Hayward B, Sieradzan K, Wright A, Barker RA, Di Pietro A, Fisher K, Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Clenaghan C, Ellison-Rose L, Handley O, Hunt S, Townhill J, Price K, Rosser A, Edwards M, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Zeman A, Causley A, Harrower T, Howcroft D, Lambord N, Rankin J, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Burns P, Chu C, Evans C, Hamer S, Markova I, Miller J, Raman A, Barnes K, Chu C, Hobson E, Jamieson S, Markova I, Thomson J, Toscano J, Wild S, Yardumian P, Bourne C, Clayton C, Dipple H, Clapton J, Grant D, Hallam C, Middleton J, Murch A, Patino D, Bate L, Pate L, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Patton M, Peterson M, Rose S, Andrews T, Bruno S, Chu E, Doherty K, Golding, Fillingham K, Foustanos I, O'Donovan K, Peppa N, Tidswell K, Quarrell O.Orth, M; Handley, Oj; Schwenke, C; Dunnett, S; Wild, Ej; Tabrizi, Sj; Landwehrmeyer, Gb; Bachoud-Lévi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, R; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Giuliano, J; Handley, Oj; Heiberg, A; Illmann, T; van Kammen, D; Landwehrmeye, Gb; Levey, J; Nielsen, Je; Päivärinta, M; Roos, Ra; Sebastián, Ar; Tabrizi, Sj; Vandenberghe, W; Verellen-Dumoulin, C; Zaremba, J; Uhrova, T; Wahlström, J; Schwenke, C; Orth, M; Illmann, T; Wallner, M; Barth, K; Guedes, Lc; Finisterra, Am; Garde, Mb; Bos, R; Burg, S; Ecker, D; Handley, Oj; Held, C; Koppers, K; Laurà, M; Descals, Am; Mclean, T; Mestre, T; Minster, S; Monza, D; Townhill, J; Orth, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, Sp; Rialland, A; Røren, N; Sasinková, P; Cubillo, Pt; Tritsch, C; van Walsem, Mr; Witjes-Ané, Mn; Yudina, E; Zielonka, D; Zielonka, E; Zinzi, P; Bonelli, Rm; 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; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Buratti, L; Hametner, Em; Holas, C; Hussl, A; Mair, K; Poewe, W; Wolf, E; Zangerl, A; Braunwarth, Em; Lilek, S; Sinadinosa, D; Walleczek, Am; Bonelli, Rm; Ladurner, G; Staffen, W; Ribaï, P; Verellen-Dumoulin, C; Flamez, A; Morez, V; de Raedt, S; Boogaerts, A; Vandenberghe, W; van Reijen, D; Klempíř, J; Kucharík, M; Roth, J; Šenkárová, Z; Hasholt, L; Hjermind, Le; Jakobsen, O; Nørremølle, A; Sørensen, Sa; Stokholm, J; Nielsen, J; Hiivola, H; Martikainen, K; Tuuha, K; Peippo, M; Sipponen, M; Ignatius, J; Kärppä, M; Åman, J; Santala, M; Allain, P; Guérid, Ma; Gohier, B; Olivier, A; Prundean, A; Scherer-Gagou, C; Verny, C; Babiloni, B; Debruxelles, S; Goizet, C; Lafoucrière, D; De Bruycker, C; Carette, As; Decorte, E; Delval, A; Delliaux, M; Dujardin, K; Peter, M; Plomhouse, L; Simonin, C; Thibault-Tanchou, S; Bellonet, M; Duru, C; Krystkowiak, P; Roussel, M; Wannepain, S; Azulay, Jp; Chabot, C; Delphini, M; Eusebio, A; Grosjean, H; Mundler, L; Nowak, M; Rudolf, G; Steinmetz, G; Tranchant, C; Wagner, C; Zimmermann, Ma; Calvas, F; Cheriet, S; Démonet, Jf; Galitzky, M; Kosinski, Cm; Milkereit, E; Probst, D; Sass, C; Schiefer, J; Schlangen, C; Werner, Cj; Gelderblom, H; Priller, J; Prüss, H; Spruth, Ej; Andrich, J; Hoffmann, R; Kraus, Ph; Muth, S; Prehn, C; Saft, C; Salmen, S; Stamm, C; Steiner, T; Strassburger, K; Lange, H; Friedrich, A; Hunger, U; Löhle, M; Schmidt, S; Storch, A; Wolz, A; Wolz, M; Lambeck, J; Zucker, B; Boelmans, K; Ganos, C; Hidding, U; Lewerenz, J; Münchau, A; Orth, M; Schmalfeld, J; Stubbe, L; Zittel, S; Diercks, G; Gorzolla, H; Schrader, C; Heinicke, W; Ribbat, M; Longinus, B; Bürk, K; Möller, Jc; Rissling, I; Peinemann, A; Städtler, M; Weindl, A; Bechtel, N; Beckmann, H; Bohlen, S; Hölzner, E; Lange, H; Reilmann, R; Rohm, S; Rumpf, S; Schepers, S; Beister, A; Dose, M; Hammer, K; Kieni, J; Leythaeuser, G; Marquard, R; Raab, T; Richter, S; Selimbegovic-Turkovic, A; Schrenk, C; Schuierer, M; Wiedemann, A; Barth, K; Buck, A; Connemann, J; Ecker, D; Eschenbach, C; Held, C; Landwehrmeyer, B; Lezius, F; Nepper, S; Niess, A; Orth, M; Süssmuth, S; Trautmann, S; Weydt, P; Cormio, C; Difruscolo, O; Sciruicchio, V; Serpino, C; de Tommaso, M; Capellari, S; Cortelli, P; Gallassi, R; Poda, R; Rizzo, G; Scaglione, C; Bertini, E; Ghelli, E; Ginestroni, A; Massaro, F; Mechi, C; Paganini, M; Piacentini, S; Pradella, S; Romoli, Am; Sorbi, S; 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; Monza, D; Nanetti, L; Paridi, D; Soliveri, P; Tomasello, C; De Michele, G; Di Maio, L; Rinaldi, C; Russo, Cv; Salvatore, E; Tucci, T; Cannella, M; Codella, V; De Gregorio, F; De Nicola, N; Martino, T; Simonelli, M; Squitieri, F; Bentivoglio, Ar; Catalli, C; Di Giacopo, R; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Modoni, A; Piano, C; Chiara, P; Quaranta, D; Romano, S; Soleti, F; Spadaro, M; Zinzi, P; van Hout, Ms; van Vugt, Jp; de Weert, Am; Bolwijn, Jj; Dekker, M; Leenders, Kl; van Oostrom, Jc; Bos, R; Dumas, Em; Jurgens, Ck; van den Bogaard, Sj; Roos, Ra; 't Hart, Ep; Witjes-Ané, Mn; Kremer, B; Verstappen, Cc; Heiberg, A; van Walsem, Mr; Frich, J; Wehus, R; Aaserud, O; Borgerød, N; Bjørgo, K; Fannemel, M; Gørvell, P; Pro Koivisto, S; Retterstøl, L; Overland, T; Stokke, B; Bjørnevoll, I; Sando, Sb; Blinkenberg, Eø; Hauge, E; Tyvoll, H; Sitek, E; Slawek, J; Soltan, W; Boczarska-Jedynak, M; Jasinska-Myga, B; Opala, G; Kłodowska-Duda, G; Banaszkiewicz, K; Szczudlik, A; Rudzińska, M; Wójcik, M; Dec, M; Krawczyk, M; Bryl, A; Ciesielska, A; Klimberg, A; Marcinkowski, J; Sempołowicz, J; Zielonka, D; Samara, H; Janik, P; Kalbarczyk, A; Kwiecinski, H; Jamrozik, Z; Antczak, J; Jachinska, K; Rakowicz, M; Richter, P; Ryglewicz, D; Witkowski, G; Zdzienicka, E; Zaremba, J; Sułek, A; Krysa, W; Júlio, F; Januário, C; Mestre, T; Guedes, L; Coelho, M; Mendes, T; Valadas, A; Ferreira, Jj; Timóteo, Â; Costa, C; Vale, J; Cavaco, S; Damásio, J; Magalhães, M; Gago, M; Garrett, C; Guerra, Mr; Solis, P; Herrera, Cd; Garcia, Pm; Barrero, F; Morales, B; Cubo, E; Mariscal, N; Alonso-Frech, F; Perez, Mr; Fenollar, M; García, Rg; Quiroga, Pp; Rivera, Sv; Villanueva, C; Bascuñana, M; Ventura, Mf; Ribas, Gg; de Yébenes, Jg; Moreno, Jl; Cubillo, Pt; Ruíz, Pj; Martínez-Descals, A; Artiga, Mj; Sánchez, V; Perea, Mf; Lorenza, F; Torres, Mm; Reinante, G; Moreau, Lv; Barbera, Ma; Guia, Db; Hernanz, Lc; Catena, Jl; Sebastián, Ar; Ferrer, Pq; Carruesco, Gt; Bas, J; Busquets, N; Calopa, M; Buongiorno, Mt; Muñoz, E; Elorza, Md; López, Cd; Terol, Sd; Robert, Mf; Ruíz, Bg; Casado, Ag; Martínez, Ih; Viladrich, Cm; Pons, i Càrdenas R; Roca, E; Llesoy, Jr; Idiago, Jm; Vergara, Mr; García, Ss; Villa Riballo, A; González, Sg; Guisasola, Lm; Salvador, C; San Martín, Es; Gorospe, A; Legarda, I; Arques, Pn; Rodríguez, Mj; Vives, B; Gaston, I; Ramos-Arroyo, Ma; Moreno, Jm; Peña, Jc; Avarvarei, Ld; Bastida, Am; Recio, Mf; Vergé, Lr; Sánchez, Vs; Carrillo, F; Cáceres, Mt; Mir, P; Suarez, Mj; Bosca, M; Burguera, Ja; Garcia, Ac; Martínez, Lm; del Val, Jl; Loutfi, G; Olofsson, C; Stattin, El; Westman, L; Wikström, B; Höglund, A; Pålhagen, Se; Paucar, M; Sandström, B; Soltani, R; Svenningsson, P; Reza-Soltani, Tw; Constantinescu, R; Fredlund, G; Høsterey-Ugander, U; Neleborn-Lingefjärd, L; Wahlström, J; Esmaeilzadeh, M; Tedroff, J; Winnberg, E; Björn, Y; Ekwall, C; Gøller, Ml; Johansson, A; Wiklund, L; Petersen, Å; Reimer, J; Widner, H; Burgunder, Jm; Burgunder, Y; Stebler, Y; Kaelin, A; Romero, I; Schüpbach, M; Zaugg, Sw; Jack, R; Matheson, K; Miedzybrodzka, Z; Rae, D; Simpson, S; Summers, F; Ure, A; Crooks, J; Curtis, A; de Souza Keylock, J; Rickards, H; Wright, J; Hayward, B; Sieradzan, K; Wright, A; Barker, Ra; Di Pietro, A; Fisher, K; Goodman, A; Hill, S; Kershaw, A; Mason, S; Paterson, N; Raymond, L; Bisson, J; Busse, M; Clenaghan, C; Ellison-Rose, L; Handley, O; Hunt, S; Townhill, J; Price, K; Rosser, A; Edwards, M; Hughes, T; Mcgill, M; Pearson, P; Porteous, M; Smith, P; Zeman, A; Causley, A; Harrower, T; Howcroft, D; Lambord, N; Rankin, J; Brockie, P; Foster, J; Johns, N; Mckenzie, S; Rothery, J; Thomas, G; Yates, S; Miller, J; Ritchie, S; Burrows, L; Fletcher, A; Harding, A; Laver, F; Silva, M; Thomson, A; Burns, P; Chu, C; Evans, C; Hamer, S; Markova, I; Miller, J; Raman, A; Barnes, K; Chu, C; Hobson, E; Jamieson, S; Markova, I; Thomson, J; Toscano, J; Wild, S; Yardumian, P; Bourne, C; Clayton, C; Dipple, H; Clapton, J; Grant, D; Hallam, C; Middleton, J; Murch, A; Patino, D; Bate, L; Pate, L; Andrews, T; Dougherty, A; Kavalier, F; Golding, C; Lashwood, A; Robertson, D; Ruddy, D; Whaite, A; Patton, M; Peterson, M; Rose, S; Andrews, T; Bruno, S; Chu, E; Doherty, K; Golding, ; Fillingham, K; Foustanos, I; O'Donovan, K; Peppa, N; Tidswell, K; Quarrell, O

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure