المؤلفون: Grasby, KL, Jahanshad, N, Painter, JN, Colodro-Conde, L, Bralten, J, Hibar, DP, Lind, PA, Pizzagalli, F, Ching, CRK, McMahon, MAB, Shatokhina, N, Zsembik, LCP, Thomopoulos, SI, Zhu, AH, Strike, LT, Agartz, I, Alhusaini, S, Almeida, MAA, Alnaes, D, Amlien, IK, Andersson, M, Ard, T, Armstrong, NJ, Ashley-Koch, A, Atkins, JR, Bernard, M, Brouwer, RM, Buimer, EEL, Bulow, R, Burger, C, Cannon, DM, Chakravarty, M, Chen, Q, Cheung, JW, Couvy-Duchesne, B, Dale, AM, Dalvie, S, de Araujo, TK, de Zubicaray, GI, de Zwarte, SMC, den Braber, A, Doan, NT, Dohm, K, Ehrlich, S, Engelbrecht, HR, Erk, S, Fan, CC, Fedko, IO, Foley, SF, Ford, JM, Fukunaga, M, Garrett, ME, Ge, T, Giddaluru, S, Goldman, AL, Green, MJ, Groenewold, NA, Grotegerd, D, Gurholt, TP, Gutman, BA, Hansell, NK, Harris, MA, Harrison, MB, Haswell, CC, Hauser, M, Herms, S, Heslenfeld, DJ, Ho, NF, Hoehn, D, Hoffmann, P, Holleran, L, Hoogman, M, Hottenga, JJ, Ikeda, M, Janowitz, D, Jansen, IE, Jia, T, Jockwitz, C, Kanai, R, Karama, S, Kasperaviciute, D, Kaufmann, T, Kelly, S, Kikuchi, M, Klein, M, Knapp, M, Knodt, AR, Kramer, B, Lam, M, Lancaster, TM, Lee, PH, Lett, TA, Lewis, LB, Lopes-Cendes, I, Luciano, M, Macciardi, F, Marquand, AF, Mathias, SR, Melzer, TR, Milaneschi, Y, Mirza-Schreiber, N, Moreira, JCV, Muhleisen, TW, Muller-Myhsok, B, Najt, P, Nakahara, S, Nho, K, Loohuis, LMO, Orfanos, DP, Pearson, JF, Pitcher, TL, Putz, B, Quide, Y, Ragothaman, A, Rashid, FM, Reay, WR, Redlich, R, Reinbold, CS, Repple, J, Richard, G, Riedel, BC, Risacher, SL, Rocha, CS, Mota, NR, Salminen, L, Saremi, A, Saykin, AJ, Schlag, F, Schmaal, L, Schofield, PR, Secolin, R, Shapland, CY, Shen, L, Shin, J, Shumskaya, E, Sonderby, IE, Sprooten, E, Tansey, KE, Teumer, A, Thalamuthu, A, Tordesillas-Gutierrez, D, Turner, JA, Uhlmann, A, Vallerga, CL, van der Meer, D, van Donkelaar, MMJ, van Eijk, L, van Erp, TGM, van Haren, NEM, van Rooij, D, van Tol, MJ, Veldink, JH, Verhoef, E, Walton, E, Wang, M, Wang, Y, Wardlaw, JM, Wen, W, Westlye, LT, Whelan, CD, Witt, SH, Wittfeld, K, Wolf, C, Wolfers, T, Wu, JQ, Yasuda, CL, Zaremba, D, Zhang, Z, Zwiers, MP, Artiges, E, Assareh, AA, Ayesa-Arriola, R, Belger, A, Brandt, CL, Brown, GG, Cichon, S, Curran, JE, Davies, GE, Degenhardt, F, Dennis, MF, Dietsche, B, Djurovic, S, Doherty, CP, Espiritu, R, Garijo, D, Gil, Y, Gowland, PA, Green, RC, Hausler, AN, Heindel, W, Ho, BC, Hoffmann, WU, Holsboer, F, Homuth, G, Hosten, N, Jack, CR, Jang, M, Jansen, A, Kimbrel, NA, Kolskar, K, Koops, S, Krug, A, Lim, KO, Luykx, JJ, Mathalon, DH, Mather, KA, Mattay, VS, Matthews, S, Van Son, JM, McEwen, SC, Melle, I, Morris, DW, Mueller, BA, Nauck, M, Nordvik, JE, Nothen, MM, O'Leary, DS, Opel, N, Martinot, MLP, Pike, GB, Preda, A, Quinlan, EB, Rasser, PE, Ratnakar, V, Reppermund, S, Steen, VM, Tooney, PA, Torres, FR, Veltman, DJ, Voyvodic, JT, Whelan, R, White, T, Yamamori, H, Adams, HHH, Bis, JC, Debette, S, Decarli, C, Fornage, M, Gudnason, V, Hofer, E, Ikram, MA, Launer, L, Longstreth, WT, Lopez, OL, Mazoyer, B, Mosley, TH, Roshchupkin, GV, Satizabal, CL, Schmidt, R, Seshadri, S, Yang, Q, Alvim, MKM, Ames, D, Anderson, TJ, Andreassen, OA, Arias-Vasquez, A, Bastin, ME, Baune, BT, Beckham, JC, Blangero, J, Boomsma, DI, Brodaty, H, Brunner, HG, Buckner, RL, Buitelaar, JK, Bustillo, JR, Cahn, W, Cairns, MJ, Calhoun, V, Carr, VJ, Caseras, X, Caspers, S, Cavalleri, GL, Cendes, F, Corvin, A, Crespo-Facorro, B, Dalrymple-Alford, JC, Dannlowski, U, de Geus, EJC, Deary, IJ, Delanty, N, Depondt, C, Desrivieres, S, Donohoe, G, Espeseth, T, Fernandez, G, Fisher, SE, Flor, H, Forstner, AJ, Francks, C, Franke, B, Glahn, DC, Gollub, RL, Grabe, HJ, Gruber, O, Haberg, AK, Hariri, AR, Hartman, CA, Hashimoto, R, Heinz, A, Henskens, FA, Hillegers, MHJ, Hoekstra, PJ, Holmes, AJ, Hong, LE, Hopkins, WD, Pol, HEH, Jernigan, TL, Jonsson, EG, Kahn, RS, Kennedy, MA, Kircher, TTJ, Kochunov, P, Kwok, JBJ, Le Hellard, S, Loughland, CM, Martin, NG, Martinot, JL, McDonald, C, McMahon, KL, Meyer-Lindenberg, A, Michie, PT, Morey, RA, Mowry, B, Nyberg, L, Oosterlaan, J, Ophoff, RA, Pantelis, C, Paus, T, Pausova, Z, Penninx, BWJH, Polderman, TJC, Posthuma, D, Rietschel, M, Roffman, JL, Rowland, LM, Sachdev, PS, Samann, PG, Schall, U, Schumann, G, Scott, RJ, Sim, K, Sisodiya, SM, Smoller, JW, Sommer, IE, St Pourcain, B, Stein, DJ, Toga, AW, Trollor, JN, Van der Wee, NJA, van't Ent, D, Volzke, H, Walter, H, Weber, B, Weinberger, DR, Wright, MJ, Zhou, J, Stein, JL, Thompson, PM, Medland, SE

المصدر: Science (New York, N.Y.). 367(6484):1340

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143331514Test

المؤلفون: Melzer TR, Stark MR, Keenan RJ, Myall DJ, MacAskill MR, Pitcher TL, Livingston L, Grenfell S, Horne KL, Young BN, Pascoe MJ, Almuqbel MM, Wang J, Miller DH, Anderson TJ, Marsh, Steven, Dalrymple-Alford, John

مصطلحات موضوعية: Parkinson's disease, amyloid PET, Florbetaben, dementia, centiloid, mild cognitive impairment, 1103 Clinical Sciences, 1109 Neurosciences, 1701 Psychology, Fields of Research::32 - Biomedical and clinical sciences::3209 - Neurosciences::320905 - Neurology and neuromuscular diseases, Fields of Research::32 - Biomedical and clinical sciences::3202 - Clinical sciences::320206 - Diagnostic radiography, Fields of Research::52 - Psychology::5202 - Biological psychology::520203 - Cognitive neuroscience, Fields of Research::52 - Psychology::5202 - Biological psychology::520206 - Psychophysiology

الوصف: The extent to which Alzheimer neuropathology, particularly the accumulation of misfolded beta-amyloid, contributes to cognitive decline and dementia in Parkinson's disease (PD) is unresolved. Here, we used Florbetaben PET imaging to test for any association between cerebral amyloid deposition and cognitive impairment in PD, in a sample enriched for cases with mild cognitive impairment. This cross-sectional study used Movement Disorders Society level II criteria to classify 115 participants with PD as having normal cognition (PDN, n = 23), mild cognitive impairment (PD-MCI, n = 76), or dementia (PDD, n = 16). We acquired 18F-Florbetaben (FBB) amyloid PET and structural MRI. Amyloid deposition was assessed between the three cognitive groups, and also across the whole sample using continuous measures of both global cognitive status and average performance in memory domain tests. Outcomes were cortical FBB uptake, expressed in centiloids and as standardized uptake value ratios (SUVR) using the Centiloid Project whole cerebellum region as a reference, and regional SUVR measurements. FBB binding was higher in PDD, but this difference did not survive adjustment for the older age of the PDD group. We established a suitable centiloid cut-off for amyloid positivity in Parkinson's disease (31.3), but there was no association of FBB binding with global cognitive or memory scores. The failure to find an association between PET amyloid deposition and cognitive impairment in a moderately large sample, particularly given that it was enriched with PD-MCI patients at risk of dementia, suggests that amyloid pathology is not the primary driver of cognitive impairment and dementia in most patients with PD.

وصف الملف: application/pdf

العلاقة: Melzer TR, Stark MR, Keenan RJ, Myall DJ, MacAskill MR, Pitcher TL, Livingston L, Grenfell S, Horne KL, Young BN, Pascoe MJ, Almuqbel MM, Wang J, Marsh SH, Miller DH, Dalrymple-Alford JC, Anderson TJ (2019). Beta amyloid deposition is not associated with cognitive impairment in Parkinson's disease. Frontiers in Neurology. 10(APR). 391-.; https://hdl.handle.net/10092/102174Test; http://doi.org/10.3389/fneur.2019.00391Test

الإتاحة: https://doi.org/10.3389/fneur.2019.00391Test
https://hdl.handle.net/10092/102174Test

المؤلفون: Nabais MF, Laws SM, Lin T, Vallerga CL, Armstrong NJ, Blair IP, Kwok JB, Mather KA, Mellick GD, Sachdev PS, Wallace L, Henders AK, Zwamborn RAJ, Hop PJ, Lunnon K, Pishva E, Roubroeks JAY, Soininen H, Tsolaki M, Mecocci P, Lovestone S, Kłoszewska I, Vellas B, Furlong S, Garton FC, Henderson RD, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson G, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Anderson TJ, Bentley SR, Fowder J, Gratten J, Halliday G, Hickie IB, Kennedy M, Lewis SJG, Montgomery GW, Pearson J, Pitcher TL, Silburn P, Zhang F, Visscher PM, Yang J, Stevenson AJ, Hillary RF, Marioni RE, Harris SE, Deary IJ, Jones AR, Shatunov A, Iacoangeli A, van Rheenen W, van den Berg LH, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Veldink JH, Hannon E, Mill J, Wray NR, McRae AF, Dalrymple-Alford, John

مصطلحات موضوعية: neurodegenerative disorders, DNA methylation, Mixed-linear models, Methylation profile score, Out-of-sample classification, inflammatory markers, Fields of Research::32 - Biomedical and clinical sciences::3209 - Neurosciences::320905 - Neurology and neuromuscular diseases, Fields of Research::31 - Biological sciences::3105 - Genetics::310504 - Epigenetics (incl. genome methylation and epigenomics)

الوصف: Background: People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to explore this overlap and heterogeneity as it is determined by the combined effects of genetic variation and the environment. In this study, we aim to identify shared blood DNAm differences between controls and people with Alzheimer’s disease, amyotrophic lateral sclerosis, and Parkinson’s disease. Results: We use a mixed-linear model method (MOMENT) that accounts for the effect of (un)known confounders, to test for the association of each DNAm site with each disorder. While only three probes are found to be genome-wide significant in each MOMENT association analysis of amyotrophic lateral sclerosis and Parkinson’s disease (and none with Alzheimer’s disease), a fixed-effects meta-analysis of the three disorders results in 12 genome-wide significant differentially methylated positions. Predicted immune cell-type proportions are disrupted across all neurodegenerative disorders. Protein inflammatory markers are correlated with profile sum-scores derived from disease-associated immune cell-type proportions in a healthy aging cohort. In contrast, they are not correlated with MOMENT DNAm-derived profile sum-scores, calculated using effect sizes of the 12 differentially methylated positions as weights. Conclusions: We identify shared differentially methylated positions in whole blood between neurodegenerative disorders that point to shared pathogenic mechanisms. These shared differentially methylated positions may reflect causes or consequences of disease, but they are unlikely to reflect cell-type proportion differences.

وصف الملف: application/pdf

العلاقة: Nabais MF, Laws SM, Lin T, Vallerga CL, Armstrong NJ, Blair IP, Kwok JB, Mather KA, Mellick GD, Sachdev PS, Wallace L, Henders AK, Zwamborn RAJ, Hop PJ, Lunnon K, Pishva E, Roubroeks JAY, Soininen H, Tsolaki M, Mecocci P, Lovestone S, Kłoszewska I, Vellas B, Furlong S, Garton FC, Henderson RD, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson G, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Anderson TJ, Bentley SR, Dalrymple-Alford J, Fowder J, Gratten J, Halliday G, Hickie IB, Kennedy M, Lewis SJG, Montgomery GW, Pearson J, Pitcher TL, Silburn P, Zhang F, Visscher PM, Yang J, Stevenson AJ, Hillary RF, Marioni RE, Harris SE, Deary IJ, Jones AR, Shatunov A, Iacoangeli A, van Rheenen W, van den Berg LH, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Veldink JH, Hannon E, Mill J, Wray NR, McRae AF (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology. 22(1). 90-.; https://hdl.handle.net/10092/102198Test; http://doi.org/10.1186/s13059-021-02275-5Test

الإتاحة: https://doi.org/10.1186/s13059-021-02275-5Test
https://hdl.handle.net/10092/102198Test

المؤلفون: Nabais, MF, Laws, SM, Lin, T, Vallerga, CL, Armstrong, NJ, Blair, IP, Kwok, JB, Mather, KA, Mellick, GD, Sachdev, PS, Wallace, L, Henders, AK, Zwamborn, RAJ, Hop, PJ, Lunnon, K, Pishva, E, Roubroeks, JAY, Soininen, H, Tsolaki, M, Mecocci, P, Lovestone, S, Kłoszewska, I, Vellas, B, Furlong, S, Garton, FC, Henderson, RD, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, G, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Anderson, TJ, Bentley, SR, Dalrymple-Alford, J, Fowder, J, Gratten, J, Halliday, G, Hickie, IB, Kennedy, M, Lewis, SJG, Montgomery, GW, Pearson, J, Pitcher, TL, Silburn, P, Zhang, F, Visscher, PM, Yang, J, Stevenson, AJ, Hillary, RF, Marioni, RE, Harris, SE, Deary, IJ, Jones, AR, Shatunov, A, Iacoangeli, A, van Rheenen, W, van den Berg, LH, Shaw, PJ, Shaw, CE, Morrison, KE, Al-Chalabi, A, Veldink, JH, Hannon, E, Mill, J, Wray, NR, McRae, AF

الوصف: Background People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to explore this overlap and heterogeneity as it is determined by the combined effects of genetic variation and the environment. In this study, we aim to identify shared blood DNAm differences between controls and people with Alzheimer’s disease, amyotrophic lateral sclerosis, and Parkinson’s disease. Results We use a mixed-linear model method (MOMENT) that accounts for the effect of (un)known confounders, to test for the association of each DNAm site with each disorder. While only three probes are found to be genome-wide significant in each MOMENT association analysis of amyotrophic lateral sclerosis and Parkinson’s disease (and none with Alzheimer’s disease), a fixed-effects meta-analysis of the three disorders results in 12 genome-wide significant differentially methylated positions. Predicted immune cell-type proportions are disrupted across all neurodegenerative disorders. Protein inflammatory markers are correlated with profile sum-scores derived from disease-associated immune cell-type proportions in a healthy aging cohort. In contrast, they are not correlated with MOMENT DNAm-derived profile sum-scores, calculated using effect sizes of the 12 differentially methylated positions as weights. Conclusions We identify shared differentially methylated positions in whole blood between neurodegenerative disorders that point to shared pathogenic mechanisms. These shared differentially methylated positions may reflect causes or consequences of disease, but they are unlikely to reflect cell-type proportion differences.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/173063/1/Meta-analysis%20of%20genome-wide%20DNA%20methylation%20identifies%20shared%20associations%20across%20neurodegenerative%20disorders.pdfTest; Nabais, MF, Laws, SM, Lin, T et al. (67 more authors) (2021) Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22. 90. ISSN 1474-760X

الإتاحة: https://eprints.whiterose.ac.uk/173063Test/
https://eprints.whiterose.ac.uk/173063/1/Meta-analysis%20of%20genome-wide%20DNA%20methylation%20identifies%20shared%20associations%20across%20neurodegenerative%20disorders.pdfTest

المؤلفون: Melzer TR, Stark MR, Keenan RJ, Myall DJ, MacAskill MR, Pitcher TL, Livingston L, Grenfell S, Horne K-L, Young BN, Pascoe MJ, Almuqbel MM, Wang J, Marsh SH, Miller DH, Dalrymple-Alford JC, Anderson TJ

مصطلحات موضوعية: Parkinson's disease, amyloid PET, Florbetaben, dementia, centiloid, mild cognitive impairment, Field of Research::11 - Medical and Health Sciences::1109 - Neurosciences::110904 - Neurology and Neuromuscular Diseases, Field of Research::11 - Medical and Health Sciences::1103 - Clinical Sciences::110320 - Radiology and Organ Imaging, Fields of Research::51 - Physical sciences::5105 - Medical and biological physics::510502 - Medical physics

الوصف: The extent to which Alzheimer neuropathology, particularly the accumulation of misfolded beta-amyloid, contributes to cognitive decline and dementia in Parkinson's disease (PD) is unresolved. Here, we used Florbetaben PET imaging to test for any association between cerebral amyloid deposition and cognitive impairment in PD, in a sample enriched for cases with mild cognitive impairment. This cross-sectional study used Movement Disorders Society level II criteria to classify 115 participants with PD as having normal cognition (PDN, n = 23), mild cognitive impairment (PD-MCI, n = 76), or dementia (PDD, n = 16). We acquired 18F-Florbetaben (FBB) amyloid PET and structural MRI. Amyloid deposition was assessed between the three cognitive groups, and also across the whole sample using continuous measures of both global cognitive status and average performance in memory domain tests. Outcomes were cortical FBB uptake, expressed in centiloids and as standardized uptake value ratios (SUVR) using the Centiloid Project whole cerebellum region as a reference, and regional SUVR measurements. FBB binding was higher in PDD, but this difference did not survive adjustment for the older age of the PDD group. We established a suitable centiloid cut-off for amyloid positivity in Parkinson's disease (31.3), but there was no association of FBB binding with global cognitive or memory scores. The failure to find an association between PET amyloid deposition and cognitive impairment in a moderately large sample, particularly given that it was enriched with PD-MCI patients at risk of dementia, suggests that amyloid pathology is not the primary driver of cognitive impairment and dementia in most patients with PD.

وصف الملف: application/pdf

العلاقة: Melzer TR, Stark MR, Keenan RJ, Myall DJ, MacAskill MR, Pitcher TL, Livingston L, Grenfell S, Horne K-L, Young BN, Pascoe MJ, Almuqbel MM, Wang J, Marsh SH, Miller DH, Dalrymple-Alford JC, Anderson TJ (2019). Beta Amyloid Deposition Is Not Associated With Cognitive Impairment in Parkinson's Disease. FRONTIERS IN NEUROLOGY. 10. 391-.; http://hdl.handle.net/10092/17875Test; https://doi.org/10.3389/fneur.2019.00391Test

الإتاحة: https://doi.org/10.3389/fneur.2019.00391Test
http://hdl.handle.net/10092/17875Test

المؤلفون: Towns, C, Richer, M, Jasaityte, S, Stafford, EJ, Joubert, J, Antar, T, Martinez-Carrasco, A, Makarious, MB, Casey, B, Vitale, D, Levine, K, Leonard, H, Pantazis, CB, Screven, LA, Hernandez, DG, Wegel, CE, Solle, J, Nalls, MA, Blauwendraat, C, Singleton, AB, Tan, MMX, Iwaki, H, Morris, HR, Gatto, EM, Kauffman, M, Khachatryan, S, Tavadyan, Z, Shepherd, CE, Hunter, J, Kumar, K, Ellis, M, Rentería, ME, Koks, S, Zimprich, A, Schumacher-Schuh, AF, Rieder, C, Awad, PS, Tumas, V, Camargos, S, Fon, EA, Monchi, O, Fon, T, Galleguillos, BP, Miranda, M, Bustamante, ML, Olguin, P, Chana, P, Tang, B, Shang, H, Guo, J, Chan, P, Luo, W, Arboleda, G, Orozco, J, del Rio, MJ, Hernandez, A, Salama, M, Kamel, WA, Zewde, YZ, Brice, A, Corvol, J-C, Westenberger, A, Illarionova, A, Mollenhauer, B, Klein, C, Vollstedt, E-J, Hopfner, F, Höglinger, G, Madoev, H, Trinh, J, Junker, J, Lohmann, K, Lange, LM, Sharma, M, Groppa, S, Gasser, T, Fang, Z-H, Akpalu, A, Xiromerisiou, G, Hadjigorgiou, G, Dagklis, I, Tarnanas, I, Stefanis, L, Stamelou, M, Dadiotis, E, Medina, A, Chan, GH-F, Ip, N, Cheung, NY-F, Zhou, X, Kishore, A, KP, D, Pal, P, Kukkle, PL, Rajan, R, Borgohain, R, Salari, M, Quattrone, A, Valente, EM, Parnetti, L, Avenali, M, Schirinzi, T, Funayama, M, Hattori, N, Shiraishi, T, Karimova, A, Kaishibayeva, G, Shambetova, C, Krüger, R, Tan, AH, Ahmad-Annuar, A, Norlinah, MI, Murad, NAA, Azmin, S, Lim, S-Y, Mohamed, W, Tay, YW, Martinez-Ramirez, D, Rodriguez-Violante, M, Reyes-Pérez, P, Tserensodnom, B, Ojha, R, Anderson, TJ, Pitcher, TL, Sanyaolu, A, Okubadejo, N, Ojo, O, Aasly, JO, Pihlstrøm, L, Tan, M, Ur-Rehman, S, Cornejo-Olivas, M, Doquenia, ML, Rosales, R, Vinuela, A, Iakovenko, E, Mubarak, BA, Umair, M, Tan, E-K, Foo, JN, Amod, F, Carr, J, Bardien, S, Jeon, B, Kim, YJ, Cubo, E, Alvarez, I, Hoenicka, J, Beyer, K, Periñan, MT, Pastor, P, El-Sadig, S, Zweier, C, Krack, P, Lin, C-H, Wu, H-C, Kung, P-J, Wu, R-M, Wu, Y, Amouri, R, Sassi, SB, Başak, AN, Genc, G, Çakmak, ÖÖ, Ertan, S, Noyce, A, Schrag, A, Schapira, A, Carroll, C, Bale, C, Grosset, D, Houlden, H, Hardy, J, Mok, KY, Rizig, M, Wood, N, Williams, N, Okunoye, O, Lewis, PA, Kaiyrzhanov, R, Weil, R, Love, S, Stott, S, Jasaitye, S, Dey, S, Obese, V, Espay, A, O’Grady, A, Sobering, AK, Siddiqi, B, Fiske, B, Jonas, C, Cruchaga, C, Comart, C, Wegel, C, Hall, D, Hernandez, D, Shiamim, E, Riley, E, Faghri, F, Serrano, GE, Chen, H, Mata, IF, Sarmiento, IJK, Williamson, J, Kim, JJ, Jankovic, J, Shulman, J, Solle, JC, Murphy, K, Nuytemans, K, Kieburtz, K, Markopoulou, K, Marek, K, Levine, KS, Chahine, LM, Ibanez, L, Screven, L, Ruffrage, L, Shulman, L, Marsili, L, Kuhl, M, Dean, M, Koretsky, M, Puckelwartz, MJ, Inca-Martinez, M, Louie, N, Mencacci, NE, Albin, R, Alcalay, R, Walker, R, Bandres-Ciga, S, Chowdhury, S, Dumanis, S, Lubbe, S, Xie, T, Foroud, T, Beach, T, Sherer, T, Song, Y, Nguyen, D, Nguyen, T, Atadzhanov, M

مصطلحات موضوعية: Global Parkinson’s Genetics Program (GP2)

الوصف: The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia.

وصف الملف: 131-; Electronic; application/pdf

العلاقة: E-ISSN:2373-8057; 131; https://pearl.plymouth.ac.uk/handle/10026.1/21810Test

الإتاحة: https://doi.org/10.1038/s41531-023-00533-wTest
https://pearl.plymouth.ac.uk/handle/10026.1/21810Test

المؤلفون: Lange, Lara Mariah, Avenali, M, Ellis, M, Illarionova, Anastasia, Keller Sarmiento, IJ::0000-0003-0979-6001, TAN, AI HUEY, Madoev, H, Galandra, C, Junker, J, Roopnarain, K, Solle, J, Wegel, C, Fang, Zih-Hua, Heutink, Peter, Kumar, Kishore Raj, Lim, S-Y, Valente, Enza Maria, Nalls, M, Blauwendraat, Cornelis, Singleton, Andrew, Mencacci, N, Lohmann, K, Klein, Christine, Gatto, EM, Kauffman, M, Khachatryan, S, Tavadyan, Z, Shepherd, CE, Hunter, J, Kumar, K, Rentería, ME, Koks, S, Zimprich, A, Schumacher-Schuh, AF, Rieder, C, Awad, PS, Tumas, V, Camargos, S, Fon, EA, Monchi, O, Fon, T, Galleguillos, BP, Miranda, M, Bustamante, ML, Olguin, P, Chana, P, Tang, B, Shang, H, Guo, J, Chan, P, Luo, W, Arboleda, G, Orozco, J, del Rio, MJ, Hernandez, A, Salama, M, Kamel, WA, Zewde, YZ, Brice, A, Corvol, J-C, Westenberger, A, Illarionova, A, Mollenhauer, B, Klein, C, Vollstedt, E-J, Hopfner, F, Höglinger, G, Trinh, J, Lange, LM, Sharma, M, Groppa, S, Gasser, T, Fang, Z-H, Akpalu, A, Xiromerisiou, G, Hadjigorgiou, G, Dagklis, I, Tarnanas, I, Stefanis, L, Stamelou, M, Dadiotis, E, Medina, A, Chan, GH-F, Ip, N, Cheung, NY-F, Zhou, X, Kishore, A, KP, D, Pal, P, Kukkle, PL, Rajan, R, Borgohain, R, Salari, M, Quattrone, A, Valente, EM, Parnetti, L, Schirinzi, T, Funayama, M, Hattori, N, Shiraishi, T, Karimova, A, Kaishibayeva, G, Shambetova, C, Krüger, R, Tan, AH, Ahmad-Annuar, A, Norlinah, MI, Murad, NAA, Ibrahim, NM, Azmin, S, Mohamed, W, Tay, YW, Martinez-Ramirez, D, Rodriguez-Violante, M, Reyes-Pérez, P, Tserensodnom, B, Ojha, R, Anderson, TJ, Pitcher, TL, Sanyaolu, A, Okubadejo, N, Ojo, O, Aasly, JO, Pihlstrøm, L, Tan, M, Ur-Rehman, S, Cornejo-Olivas, M, Doquenia, ML, Rosales, R, Vinuela, A, Iakovenko, E, Mubarak, BA, Umair, M, Tan, E-K, Foo, JN, Amod, F, Carr, J, Bardien, S, Jeon, B, Kim, YJ, Cubo, E, Alvarez, I, Hoenicka, J, Beyer, K, Periñan, MT, Pastor, P, El-Sadig, S, Zweier, C, Paul, K, Lin, C-H, Wu, H-C, Kung, P-J, Wu, R-M, Wu, S, Wu, Y, Amouri, R, Sassi, SB, Başak, AN, Genc, G, Çakmak, ÖÖ, Ertan, S, Noyce, A, Martínez-Carrasco, A, Schrag, A, Schapira, A, Carroll, Camille, Bale, C, Grosset, D, Stafford, EJ, Houlden, H, Morris, HR, Hardy, J, Mok, KY, Rizig, M, Wood, N, Williams, N, Okunoye, O, Lewis, PA, Kaiyrzhanov, R, Weil, R, Love, S, Stott, S, Jasaitye, S, Dey, S, Obese, V, Espay, A, O’Grady, A, Singleton, AB, Sobering, AK, Siddiqi, B, Casey, B, Fiske, B, Jonas, C, Cruchaga, C, Pantazis, CB, Comart, C, Blauwendraat, C, Vitale, D, Hall, D, Hernandez, D, Shiamim, E, Riley, E, Faghri, F, Serrano, GE, Leonard, H, Iwaki, H, Chen, H, Mata, IF, Sarmiento, IJK, Williamson, J, Kim, JJ, Jankovic, J, Shulman, J, Solle, JC, Murphy, K, Nuytemans, K, Kieburtz, K, Markopoulou, K, Marek, K, Levine, KS, Chahine, LM, Screven, L, Ruffrage, L, Shulman, L, Marsili, L, Kuhl, M, Dean, M, Makarious, MB, Koretsky, M, Inca-Martinez, M, Nalls, MA, Louie, N, Mencacci, NE, Albin, R, Alcalay, R, Walker, R, Bandres-Ciga, S, Chowdhury, S, Dumanis, S, Lubbe, S, Xie, T, Foroud, T, Beach, T, Sherer, T, Song, Y, Nguyen, D, Nguyen, T, Atadzhanov, M

مصطلحات موضوعية: Global Parkinson’s Genetic Program (GP2)

الوصف: Correction to: s41531-023-00526-9 npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below.

وصف الملف: 133-; Electronic; application/pdf

العلاقة: E-ISSN:2373-8057; 133; https://pearl.plymouth.ac.uk/handle/10026.1/21803Test

الإتاحة: https://doi.org/10.1038/s41531-023-00560-7Test
https://pearl.plymouth.ac.uk/handle/10026.1/21803Test

المؤلفون: Wood KL, Myall DJ, Livingston L, Melzer TR, Pitcher TL, MacAskill MR, Geurtsen GJ, Anderson TJ, Dalrymple-Alford JC

مصطلحات موضوعية: Field of Research::11 - Medical and Health Sciences::1109 - Neurosciences::110904 - Neurology and Neuromuscular Diseases, Field of Research::17 - Psychology and Cognitive Sciences::1702 - Cognitive Science

الوصف: The Movement Disorder Society Task Force (MDS-TF) has proposed diagnostic criteria for mild cognitive impairment in Parkinson's disease (PD-MCI). We hypothesized that the risk of dementia (PDD) varies across the different cutoff schemes allowed. A longitudinal study followed 121 non-demented PD patients for up to 4.5 years. In Part One, unique groups of patients were identified as PD-MCI at baseline using the MDS-TF requirement of two impaired cognitive test scores, with both scores classified as impaired at either (i) 2 s.d., (ii) 1.5 s.d. or (iii) 1 s.d. below normative data; relative risk (RR) of PDD was assessed at each criterion. In Part Two, the whole sample was reassessed and (i) RR of PDD determined when two impairments at 1.5 s.d. existed within a single cognitive domain, followed by (ii) RR of PDD in the unique group whose two impairments at 1.5 s.d. did not exist within a single domain (i.e., only across two domains). Twenty-one percent of patients converted to PDD. Part One showed that the 1.5 s.d. criterion at baseline is optimal to maximize progression to PDD over 4 years. Part Two, however, showed that the 1.5 s.d. cutoff produced a high RR of PDD only when two impairments were identified within a single cognitive domain (7.2, 95% confidence interval (CI)=3.4-16.6, P<0.0001; 51% converted). The RR when the 1.5 s.d. impairments occurred only across two different domains, was nonsignificant (1.7, CI=0.5-7.4, P=0.13; 11% converted) and similar to using a 1 s.d. criterion (1.9, CI=0.3-4.3, P=0.13; 8% converted). If the intent of a PD-MCI diagnosis is to detect increased risk of PDD in the next 4 years, optimal criteria should identify at least two impairments at 1.5 s.d. within a single cognitive domain.

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10092/15720Test; https://doi.org/10.1038/npjparkd.2015.27Test

الإتاحة: https://doi.org/10.1038/npjparkd.2015.27Test
http://hdl.handle.net/10092/15720Test

المؤلفون: Grasby, Katrina L., Jahanshad, Neda, Shatokhina, Natalia, Mirza-Schreiber, N, Moreira, JCV, Muhleisen, TW, Mueller-Myhsok, B, Najt, P, Nakahara, S, Nho, K, Loohuis, LMO, Orfanos, DP, Pearson, JF, Zsembik, Leo C. P., Pitcher, TL, Putz, B, Quide, Y, Ragothaman, A, Rashid, FM, Reay, William R., Redlich, R, Reinbold, CS, Repple, J, Richard, G, Thomopoulos, Sophia I., Riedel, BC, Risacher, SL, Rocha, CS, Mota, NR, Salminen, L, Saremi, A, Saykin, AJ, Schlag, F, Schmaal, L, Schofield, PR, Zhu, Alyssa H., Secolin, R, Shapland, CY, Shen, L, Shin, J, Shumskaya, E, Sonderby, IE, Sprooten, E, Tansey, KE, Teumer, A, Thalamuthu, A, Strike, Lachlan T., Tordesillas-Gutierrez, D, Turner, JA, Uhlmann, A, Vallerga, CL, van der Meer, D, van Donkelaar, MMJ, van Eijk, L, van Erp, TGM, van Haren, NEM, van Rooij, D, Agartz, Ingrid, van Tol, M-J, Veldink, JH, Verhoef, E, Walton, E, Wang, M, Wang, Y, Wardlaw, JM, Wen, W, Westlye, LT, Whelan, CD, Alhusaini, Saud, Witt, SH, Wittfeld, K, Wolf, C, Wolfers, T, Wu, Jing Qin, Yasuda, CL, Zaremba, D, Zhang, Z, Zwiers, MP, Artiges, E, Almeida, Marcio A. A., Assareh, AA, Ayesa-Arriola, R, Belger, A, Brandt, CL, Brown, GG, Cichon, S, Curran, JE, Davies, GE, Degenhardt, F, Dennis, MF, Alnaes, Dag, Dietsche, B, Djurovic, S, Doherty, CP, Espiritu, R, Garijo, D, Gil, Y, Gowland, PA, Green, RC, Hausler, AN, Heindel, W, Amlien, Inge K., Ho, B-C, Hoffmann, WU, Holsboer, F, Homuth, G, Hosten, N, Jack, CR, Jang, M, Jansen, A, Kimbrel, NA, Kolskar, K, Painter, Jodie N., Andersson, Micael, Koops, S, Krug, A, Lim, KO, Luykx, JJ, Mathalon, DH, Mather, KA, Mattay, VS, Matthews, S, Van Son, JM, McEwen, SC, Ard, T, Melle, I, Morris, DW, Mueller, BA, Nauck, M, Nordvik, JE, Noethen, MM, O'Leary, DS, Opel, N, Martinot, M-LP, Pike, GB, Armstrong, NJ, Preda, A, Quinlan, EB, Rasser, Paul E., Ratnakar, V, Reppermund, S, Steen, VM, Tooney, Paul A., Torres, FR, Veltman, DJ, Voyvodic, JT, Ashley-Koch, A, Whelan, R, White, T, Yamamori, H, Adams, HHH, Bis, JC, Debette, S, Decarli, C, Fornage, M, Gudnason, V, Hofer, E, Atkins, Joshua R., Ikram, MA, Launer, L, Longstreth, WT, Lopez, OL, Mazoyer, B, Mosley, TH, Roshchupkin, GV, Satizabal, CL, Schmidt, R, Seshadri, S, Bernard, M, Yang, Q, Alvim, MKM, Ames, D, Anderson, TJ, Andreassen, OA, Arias-Vasquez, A, Bastin, ME, Baune, BT, Beckham, JC, Blangero, J, Brouwer, RM, Boomsma, DI, Brodaty, H, Brunner, HG, Buckner, RL, Buitelaar, JK, Bustillo, JR, Cahn, W, Cairns, Murray J., Calhoun, V, Carr, VJ, Buimer, EEL, Caseras, X, Caspers, S, Cavalleri, GL, Cendes, F, Corvin, A, Crespo-Facorro, B, Dalrymple-Alford, JC, Dannlowski, U, de Geus, EJC, Deary, IJ, Bulow, R, Delanty, N, Depondt, C, Desrivieres, S, Donohoe, G, Espeseth, T, Fernandez, G, Fisher, SE, Flor, H, Forstner, AJ, Francks, C, Burger, C, Franke, B, Glahn, DC, Gollub, RL, Grabe, HJ, Gruber, O, Haberg, AK, Hariri, AR, Hartman, CA, Hashimoto, R, Heinz, A, Colodro-Conde, Lucia, Cannon, DM, Henskens, Frans A., Hillegers, MHJ, Hoekstra, PJ, Holmes, AJ, Hong, LE, Hopkins, WD, Pol, HEH, Jernigan, TL, Jonsson, EG, Kahn, RS, Chakravarty, M, Kennedy, MA, Kircher, TTJ, Kochunov, P, Kwok, JBJ, Le Hellard, S, Loughland, Carmel M., Martin, NG, Martinot, J-L, McDonald, C, McMahon, KL, Chen, Q, Meyer-Lindenberg, A, Michie, Patricia T., Morey, RA, Mowry, B, Nyberg, L, Oosterlaan, J, Ophoff, RA, Pantelis, C, Paus, T, Pausova, Z, Cheung, JW, Penninx, BWJH, Polderman, TJC, Posthuma, D, Rietschel, M, Roffman, JL, Rowland, LM, Sachdev, PS, Samann, PG, Schall, Ulrich, Schumann, G, Couvy-Duchesne, B, Scott, Rodney J., Sim, K, Sisodiya, SM, Smoller, JW, Sommer, IE, St Pourcain, B, Stein, DJ, Toga, AW, Trollor, JN, Van der Wee, NJA, Dale, AM, van't Ent, D, Volzke, H, Walter, H, Weber, B, Weinberger, DR, Wright, MJ, Zhou, J, Stein, JL, Thompson, PM, Medland, SE, Dalvie, S, de Araujo, TK, de Zubicaray, GI, de Zwarte, SMC, Bralten, Janita, den Braber, A, Nhat, TD, Dohm, K, Ehrlich, S, Engelbrecht, H-R, Erk, S, Fan, CC, Fedko, IO, Foley, SF, Ford, JM, Hibar, Derrek P., Fukunaga, M, Garrett, ME, Ge, T, Giddaluru, S, Goldman, AL, Green, MJ, Groenewold, NA, Grotegerd, D, Gurholt, TP, Gutman, BA, Lind, Penelope A., Hansell, NK, Harris, MA, Harrison, MB, Haswell, CC, Hauser, M, Herms, S, Heslenfeld, DJ, Ho, NF, Hoehn, D, Hoffmann, P, Pizzagalli, Fabrizio, Holleran, L, Hoogman, M, Hottenga, J-J, Ikeda, M, Janowitz, D, Jansen, IE, Jia, T, Jockwitz, C, Kanai, R, Karama, S, Ching, Christopher R. K., Kasperaviciute, D, Kaufmann, T, Kelly, S, Kikuchi, M, Klein, M, Knapp, M, Knodt, AR, Kramer, B, Lam, M, Lancaster, TM, McMahon, Mary Agnes B., Lee, PH, Lett, TA, Lewis, LB, Lopes-Cendes, I, Luciano, M, Macciardi, F, Marquand, AF, Mathias, SR, Melzer, TR, Milaneschi, Y

المساهمون: The University of Newcastle. Faculty of Health & Medicine, School of Biomedical Sciences and Pharmacy

مصطلحات موضوعية: attention deficit disorder withy hyperactivity, cerebral cortex, genetic variation, brain, brain mapping, human

الوصف: Introduction: The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. Rationale: To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. Results: We identified 369 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 360 loci for which replication data were available, 241 loci influencing surface area and 66 influencing thickness remained significant after replication, with 237 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 50 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results ...

العلاقة: NHMRC.1067137 http://purl.org/au-research/grants/nhmrc/1067137Test & 1147644 http://purl.org/au-research/grants/nhmrc/1147644Test & 1121474 http://purl.org/au-research/grants/nhmrc/1121474Test & 1067137 http://purl.org/au-research/grants/nhmrc/1067137Test; Science Vol. 367, Issue 6484, no. aay6690; http://hdl.handle.net/1959.13/1445808Test; uon:42676

الإتاحة: http://hdl.handle.net/1959.13/1445808Test

المؤلفون: Pitcher, TL, Wickens, JR, Reynolds, JNJ

المصدر: Acta Neuropsychiatrica ; volume 18, issue 6, page 304-304 ; ISSN 0924-2708 1601-5215

مصطلحات موضوعية: Biological Psychiatry, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1017/s0924270800031628Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0924270800031628Test