Citations 18
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Zhang, Ming , Ferrari, Raffaele, Tartaglia, Maria Carmela , Keith, Julia , Surace, Ezequiel , Wolf, Uri, Sato, Christine , Grinberg, Mark, Liang, Yan , Xi, Zhengrui, Dupont, Kyle, McGoldrick, Philip, Weichert, Anna , McKeever, Paul M. , Schneider, Raphaël , McCorkindale, Michael D, Manzoni, Claudia , Rademakers, Rosa , Graff, Caroline , Parisi, Joseph E., Petersen, Ronald C., Miller, Bruce L. , Rooij, Jeroen van , Pijnenburg, Yolande A.L. , Zee, Julie van der, Broeckhoven, Christine Van , Ber, Isabelle Le , Deerlin, Vivianna Van, Suh, EunRan , Rohrer, Jonathan D. , Mead, Simon , Öijerstedt, Linn , Pickering‐Brown, Stuart , Rollinson, Sara, Rossi, Giacomina , Tagliavini, Fabrizio , Brooks, William S. , Dobson‐Stone, Carol , Halliday, Glenda M. , Hodges, John R. , Piguet, Olivier , Binetti, Giuliano , Benussi, Luisa , Ghidoni, Roberta , Sorbi, Sandro , Bruni, Amalia C. , Galimberti, Daniela , Rainero, Innocenzo , Rubino, Elisa , Lleó, Alberto, Ruiz, Agustı́n , Hernández, Isabel, Pástor, Pau , Díez-Fairén, Mónica , Borroni, Barbara , Pasquier, Florence , Deramecourt, Vincent , Lebouvier, Thibaud , Perneczky, Robert , Diehl‐Schmid, Janine , Huey, Edward D. , Mayeux, Richard , Nalls, Michael A., Hernandez, Dena G., Singleton, Andrew B., Momeni, Parastoo, Zeng, Zhen , Hardy, John , Zinman, Lorne , Nalls, Michael A., Ramasamy, Adaikalavan , Hodges, John R. , Bartley, Lauren, Hernández, Isabel, Boada, Merçé , Padovani, Alessandro , Cairns, Nigel J. , Serpente, María , Scarpini, Elio, Blesa, Rafael , ouml, Maria Landqvist Wald, Nilsson, Karin , Mackenzie, Ian R. , Hsiung, Ging‐Yuek Robin , Attems, Johannes , Pietrini, Pietro , Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Razquín, Cristina , Ortega‐Cubero, Sara , Alonso, Elena, Alexopoulos, Panagiotis , Kurz, Alexander , Pinessi, Lorenzo , Rogaeva, Ekaterina, Giaccone, Giorgio , Rowe, James B. , Uphill, James, Collinge, John, Danek, Adrian , Deerlin, Vivianna M Van, Grossman, Murray, Trojanowski, John Q. , Leber, Isabelle, Hannequin, Didier , Golfier, Véronique, Vercelletto, Martine, Brice, Alexis , Nacmias, Benedetta, Bagnoli, Silvia , Hjermind, Lena E. , Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Fox, Nick C. , Warren, Jason D. , Spillantini, Maria Grazia , Rizzu, Patrizia , Heutink, Peter , Snowden, Julie S. , Richardson, Anna , Maletta, Raffaele , Frangipane, Francesca, Bernardi, Livia , Conidi, Maria Elena, Smirne, Nicoletta , Rademakers, Rosa, Baker, Matt , Petersen, Ronald , Knopman, David, Josephs, Keith A. , Miller, Bruce L., Karydas, Anna M., Rosen, Howard J., Scheltens, Philip , Logroscino, Giancarlo , Capozzo, Rosa , Novelli, Valeria , Franceschi, M. , Postiglione, Alfredo, Milan, Graziella , Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Rollin, Adeline, Deramecourt, Vincent, Kapogiannis, Dimitrios , Waldö, Maria Landqvist , Halliday, Glenda , Logroscino, Giancarlo , Rowe, James B , Hsiung, Gink-Yuek , Miller, Bruce L , Hardy, John , Scheltens, Philip , Rohrer, Jonathan D , Fox, Nick C , Padovani, Alessandro , Ruiz, Agustín , Pastor, Pau , Boada, Merce , Tartaglia, Maria Carmela , Pasquier, Florence , Brooks, William , McGoldrick, Philip , McCorkindale, Michael , Dickson, Dennis W. , Boeve, Bradley F. , Seeley, William W. , Swieten, John C. van , Zee, Julie van der , Deerlin, Vivianna M. Van , Nacmias, Benedetta , Scarpini, Elio , Clarimón, Jordi , Lleó, Alberto , Grafman, Jordan Henry , Robertson, Janice , Rogaeva, Ekaterina A. , Kwok, John B. , Schofield, Peter R. , Thompson, Elizabeth A. , Cruchaga, Carlos , Forloni, Gianluigi , Albani, Diego , Fenoglio, Chiara , Nilsson, Christer, Mann, David , Morris, Christopher M. , Griffiths, Timothy David , McKeith, Ian G. , Thomas, Alan , Wassermann, Eric M. , Tierney, Michael C, George‐Hyslop, Peter St , Schlachetzki, Johannes C. M. , Cappa, Stefano F. , Piaceri, Irene , Nielsen, Jørgen Erik , Riemenschneider, Markus J. , Gu, Wei , Rossor, Martin N. , Morris, Huw R. , Gerhard, Alexander , Cupidi, Chiara , Anfossi, Maria , Gallo, Maura , Dopper, Elise G.P. , Seelaar, Harro , Puca, Annibale Alessandro , Franceschi, Massimo, Chiang, Huei‐Hsin, Ferrucci, Luigi , Brice, Alexis , Rainero, Innocenzo , Galimberti, Daniela , Pijnenburg, Yolande A L , Lebouvier, Thibaud , Graff, Caroline , Borroni, Barbara
Brain | August 31, 2018 | Volume: 141 | Issue: 10 | Pages: 2895-2907
Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers
Meeter, Lieke , Sias, Ana C. , Jiskoot, Lize C. , Kaat, Laura Donker , Papma, Janne M., Panman, Jessica , Ende, Emma L. van der , Dopper, Elise G.P. , Graff, Caroline , Boxer, Adam L. , Rosen, Howard J., Sánchez‐Valle, Raquel , Galimberti, Daniela , Pijnenburg, Yolande A.L. , Benussi, Luisa , Ghidoni, Roberta , Borroni, Barbara , Laforce, Robert , Campo, Marta del , Teunissen, Charlotte E. , Minkelen, Rick van , Coppola, Giovanni , Geschwind, Dan, Rademakers, Rosa , Karydas, Anna M., Öijerstedt, Linn , Binetti, Giuliano , Padovani, Alessandro , Cash, David M. , Dick, Katrina M., Bocchetta, Martina , Rohrer, Jonathan D. , Petrucelli, Leonard , Lee, Suzee E. , Gendron, Tania F. , Del Campo, Marta , Teunissen, Charlotte E , Sánchez-Valle, Raquel , Rohrer, Jonathan D , Russo, Silvia P. , Papma, Janne M. , Franzen, Sanne , Rojas, Julio C. , Scarpini, Elio , Miller, Bruce L. , Swieten, John C. van , Padovani, Alessandro , Cash, David M , Donker Kaat, Laura , Dopper, Elise G P , Galimberti, Daniela , Bocchetta, Martina , Pijnenburg, Yolande A L , Jiskoot, Lize C , Laforce, Robert , Graff, Caroline , Borroni, Barbara
Annals of Clinical and Translational Neurology | April 10, 2018 | Volume: 5 | Issue: 5 | Pages: 583-597
AbstractObjectiveTo evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72‐associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume.MethodsWe measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers. We explored associations with grey matter volumes using region of interest and voxel‐wise analyses.ResultsPoly(GP) was present in C9orf72 expansion carriers and absent in noncarriers (specificity 100%, sensitivity 97%). Presymptomatic carriers had lower poly(GP) levels than symptomatic carriers. NfL levels were higher in symptomatic carriers than in presymptomatic carriers and healthy noncarriers. NfL was highest in patients with concomitant motor neuron disease, and correlated with disease severity and survival. Associations between poly(GP) levels and small grey matter regions emerged but did not survive multiple comparison correction, while higher NfL levels were associated with atrophy in frontotemporoparietal cortices and the thalamus.InterpretationThis study of C9orf72 expansion carriers reveals that: (1) poly(GP) levels discriminate presymptomatic and symptomatic expansion carriers from noncarriers, but are not associated with indicators of neurodegeneration; and (2) NfL levels are associated with grey matter atrophy, disease severity, and shorter survival. Together, poly(GP) and NfL show promise as complementary biomarkers for clinical trials for C9orf72‐associated frontotemporal dementia, with poly(GP) as a potential marker for target engagement and NfL as a marker of disease activity and progression.
[P4–189]: SYMPTOM ONSET IN GENETIC FRONTOTEMPORAL DEMENTIA
Dick, Katrina M., Ber, Isabelle Le , Graff, Caroline , Ghoshal, Nupur , Mackenzie, Ian R. , Synofzik, Matthis , Santana, Isabel, Xiong, Chengjie , Couratier, Philippe, Huey, Edward D. , Sorbi, Sandro , Vandenberghe, Rik , Onyike, Chiadi U. , Rogalskı, Emily , Ducharme, Simon , Ng, Adeline Su Lyn , Tagliavini, Fabrizio , Martinaud, Olivier, Otto, Markus , Nicholas, Jennifer, Hodges, John R. , Boxer, Adam L. , Rosen, Howard J., Brice, Alexis , Synofzik, Matthis , Xiong, Chengjie , Swieten, John C. van , Gerhard, Alexander , Frisoni, Giovanni B. , Dickerson, Bradford Clark , Borroni, Barbara , Galimberti, Daniela , Sánchez‐Valle, Raquel , Santana, Isabel , Moreno, Fermín , Rowe, James B. , Mendonça, Alexandre de , Masellis, Mario , Tartaglia, Maria Carmela , Laforce, Robert , Papageorgiou, Sokratis G. , Brodtmann, Amy G. , Pasquier, Florence , Butler, Christopher , Finger, Elizabeth C. , Grossman, Murray , Roberson, Erik D. , Boeve, Bradley F. , Rohrer, Jonathan D. , Brice, Alexis , Otto, Markus , Vandenberghe, Rik , Graff, Caroline
Alzheimer's & Dementia | October 20, 2017 | Volume: 13 | Issue: 7S_Part_28 | Pages: No page available
Transethnic genome‐wide scan identifies novel Alzheimer's disease loci
Jun, Gyungah , Chung, Jaeyoon , Beecham, Gary W. , Bennett, David A. , Buxbaum, Joseph D. , Byrd, Goldie S. , Carrasquillo, Minerva M., Crane, Paul K. , Cruchaga, Carlos , Jager, Philip L. De , Ertekin‐Taner, Nilüfer , Evans, Denis A., Fallin, M. Danielle, Friedland, Robert P. , Goate, Alison , Graff‐Radford, Neill R. , Hendrie, Hugh C. , Hall, Kathleen, Hamilton‐Nelson, Kara L., Kukull, Walter A. , Kunkle, Brian W. , Kuwano, Ryozo, Larson, Eric B., Martin, Eden R. , Montine, Thomas J. , Reiman, Eric M. , Reitz, Christiane, Sherva, Richard , George‐Hyslop, Peter St , Thornton, Timothy, Younkin, Steven G., Wang, Li‐San , Wendlund, Jens R., Winslow, Ashley R. , Adams, Perrie M. , Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Asthana, Sanjay , Atwood, Craig , Barmada, Michjael M, Beach, Thomas G. , Bigio, Eileen H. , Bird, Thomas D., Blacker, Deborah , Bowen, James D. , Boxer, Adam, Cairns, Nigel J. , Cao, Chuanhai , Carlson, Chris , Carlsson, Cynthia M., Carney, Regina M., Carroll, Steven L. , Chui, Helena C., Clark, David G., Corneveaux, Jason J., Cribbs, David H. , DeKosky, Steven T. , Demirci, F. Yesim , Dick, Malcolm, Doody, Rachelle S., Duara, Ranjan , Faber, Kelley , Fairchild, Thomas, Fallon, Kenneth B., Farlow, Martin R. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Growdon, John H., Håkonarson, Håkon , Hamilton, Ronald L. , Hardy, John , Harrell, Lindy E., Huentelman, Matthew J. , Hulette, Christine M., Jarvik, Gail P. , Jicha, Gregory A. , Jin, Lee‐Way, Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , LaFerla, Frank M. , Leverenz, James B. , Ge, Li , Lieberman, Andrew P. , Lin, Chiao‐Feng , Lyketsos, Constantine G. , Mack, Wendy J. , Marson, Daniel , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Mesulam, Marsel, Miller, Carol A., Miller, Joshua W., Morris, John C. , Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Partch, Amanda, Paulson, Henry L. , Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reisch, Joan, Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary , Saykin, Andrew J. , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Wu, Chuang‐Kuo, Yu, Chang‐En , Yu, Lei , Haines, Jonathan L. , Mayeux, Richard , Pericak‐Vance, Margaret A. , Schellenberg, Gerard, Lunetta, Kathryn L. , Farrer, Lindsay A. , Bennett, David A. , Mez, Jesse , Barber, Robert C. , Carrasquillo, Minerva M. , Cruchaga, Carlos , Foroud, Tatiana , Hamilton‐Nelson, Kara L. , Inzelberg, Rivka , Kamboh, M. Ilyas , Kauwe, John S. K. , Logue, Mark W. , Manly, Jennifer J. , Mukherjee, Shubhabrata , Naj, Adam Christian , Sherva, Richard , Vardarajan, Badri Narayan , Barnes, Lisa L. , Becker, James T. , Boeve, Bradley F. , Burke, James R. , Carlsson, Cynthia M. , Chui, Helena C. , Crocco, Elizabeth , DeCarli, Charles , Dickson, Dennis W. , Duara, Ranjan , Ferris, Steven H. , Galasko, Douglas , Ghetti, Bernardino , Green, Robert C. , Head, Elizabeth , Honig, Lawrence S. , Huebinger, Ryan , Hyman, Bradley T. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , Li, Ge, López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Myers, Amanda , O’Bryant, Sid E. , Pankratz, V. Shane , Perry, William , Potter, Huntington , Quinn, Joseph F. , Reisberg, Barry , Roberson, Erik D. , Rogaeva, Ekaterina A. , Schneider, Julie A. , Seeley, William W. , Spina, Salvatore , Stern, Robert A. , Tsuang, Debby W. , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Zhang, Xiaoling , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Jarvik, Gail P , Paulson, Henry L , Hardy, John , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
Alzheimer's & Dementia | February 6, 2017 | Volume: 13 | Issue: 7 | Pages: 727-738
Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.
Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States
Wang, Li-San, Graham, Robert , Crane, Paul K. , Kunkle, Brian W. , Cruchaga, Carlos , Murcia, Josue D. Gonzalez , Cannon‐Albright, Lisa , Baldwin, Clinton T., Blennow, Kaj , Kukull, Walter A. , Faber, Kelley M., Schupf, Nicole , Norton, Maria C. , Tschanz, JoAnn T. , Munger, Ronald G. , Corcoran, Christopher, Lin, Chiao‐Feng , Dombroski, Beth A. , Cantwell, Laura B., Partch, Amanda, Håkonarson, Håkon , George‐Hyslop, Peter St , Goate, Alison , Foroud, Tatiana, Carney, Regina M., Larson, Eric B., Behrens, Timothy W. , Kauwe, John, Haines, Jonathan L. , Farrer, Lindsay A. , Pericak‐Vance, Margaret A. , Mayeux, Richard , Schellenberg, Gerard D., Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Barber, Robert W., Barmada, M. Michael , Beach, Thomas G. , Beecham, Gary W. , Beekly, Duane, Bennett, David A. , Bigio, Eileen H. , Bird, Thomas D., Blacker, Deborah , Bowen, James D. , Boxer, Adam, Buxbaum, Joseph D. , Cairns, Nigel J. , Cao, Chuanhai , Carlson, Chris , Carroll, Steven L. , Chui, Helena C., Clark, David G., Cribbs, David H. , DeCarli, Charles , DeKosky, Steven T. , Demirci, F. Yesim , Dick, Malcolm, Duara, Ranjan , Ertekin‐Taner, Nilüfer , Fallon, Kenneth B., Farlow, Martin R. , Ferris, Steven H. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Graff‐Radford, Neill R. , Growdon, John H., Hamilton, Ronald L. , Hamilton‐Nelson, Kara L., Harrell, Lindy E., Hulette, Christine M., Jicha, Gregory A. , Jin, Lee‐Way, Jun, Gyungah , Kamboh, M. Ilyas , Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , Kramer, Patricia, LaFerla, Frank M. , Leverenz, James B. , Lieberman, Andrew P. , Lunetta, Kathryn L. , Lyketsos, Constantine G. , Mack, Wendy J. , Marson, Daniel , Martin, Eden R. , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Miller, Carol A., Miller, Joshua W., Montine, Thomas J. , Morris, John C. , Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reiman, Eric M. , Reisberg, Barry , Reitz, Christiane , Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Sano, Mary , Saykin, Andrew J. , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Stern, Robert A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Tsuang, Debby W. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Younkin, Steven G., Yu, Chang‐En , Yu, Lei , DeCarli, Charles , Wang, Li-San, Naj, Adam Christian , Cruchaga, Carlos , Zetterberg, Henrik , Rogaeva, Ekaterina A. , Valladares, Otto , Green, Robert C. , Barnes, Lisa L. , Becker, James T. , Boeve, Bradley F. , Burke, James R. , Chui, Helena C. , Crocco, Elizabeth , Dickson, Dennis W. , Duara, Ranjan , Galasko, Douglas , Ganguli, Mary , Ghetti, Bernardino , Hamilton‐Nelson, Kara L. , Head, Elizabeth , Honig, Lawrence S. , Hyman, Bradley T. , Jarvik, Gail P. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , Li, Ge , López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Perry, William , Potter, Huntington , Quinn, Joseph F. , Roberson, Erik D. , Schneider, Julie A. , Seeley, William W. , Spina, Salvatore , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Vardarajan, Badri Narayan , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Bennett, David A. , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Cannon-Albright, Lisa A , Stern, Robert A , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
JAMA Neurology | December 22, 2014 | Volume: 72 | Issue: 2 | Pages: 209
Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease
Jun, Gyungah , Reitz, Christiane, Kunkle, Brian W. , Park, Yo Son, Beecham, Gary W. , Rajbhandary, Ruchita, Hamilton‐Nelson, Kara L., Wang, Li-San, Kauwe, John, Huentelman, Matthew J. , Bird, Thomas D., Baldwin, Clinton T., Jarvik, Gail P. , Crane, Paul K. , Barmada, M. Michael , Demirci, F. Yesim , Cruchaga, Carlos , Kramer, Patricia L., Ertekin‐Taner, Nilüfer , Hardy, John , Graff‐Radford, Neill R. , Larson, Eric B., George‐Hyslop, Peter St , Buxbaum, Joseph D. , Evans, Denis A., Lunetta, Kathryn L. , Kamboh, M. Ilyas , Saykin, Andrew J. , Reiman, Eric M. , Jager, Philip L. De , Morris, John C. , Montine, Thomas J. , Goate, Alison , Blacker, Deborah , Tsuang, Debby W. , Håkonarson, Håkon , Kukull, Walter A. , Foroud, Tatiana, Martin, Eden R. , Haines, Jonathan L. , Mayeux, Richard , Farrer, Lindsay A. , Schellenberg, Gerard D., Pericak‐Vance, Margaret A. , Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Barber, Robert W., Beach, Thomas G. , Beekly, Duane, Bigio, Eileen H. , Bowen, James D. , Boxer, Adam, Cairns, Nigel J. , Cantwell, Laura B., Cao, Chuanhai , Carlson, Chris , Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L. , Chui, Helena C., Clark, David G., Corneveaux, Jason J., Cribbs, David H. , DeCarli, Charles , DeKosky, Steven T. , Dick, Malcolm, Duara, Ranjan , Faber, Kelley M., Fallon, Kenneth B., Farlow, Martin R. , Ferris, Steven H. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Growdon, John H., Hamilton, Ronald L. , Harrell, Lindy E., Hulette, Christine M., Jicha, Gregory A. , Jin, Lee‐Way, Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , LaFerla, Frank M. , Leverenz, James B. , Li, Ge , Lieberman, Andrew P. , Lin, Chiao‐Feng , Lyketsos, Constantine G. , Mack, Wendy J. , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Miller, Carol A., Miller, Joshua W., Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Paulson, Henry L. , Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reisberg, Barry , Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Sano, Mary , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Stern, Robert A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Younkin, Steven G., Yu, Chang‐En , Yu, Lei, Bennett, David A. , DeCarli, Charles , Pankratz, Vernon S, Naj, Adam Christian , Perry, William , Hamilton‐Nelson, Kara L. , Wang, Li-San, Myers, Amanda , Boeve, Bradley F. , Rogaeva, Ekaterina A. , Cruchaga, Carlos , Kramer, P. L., Green, Robert C. , Schneider, Julie A. , Bennett, David , Barnes, Lisa L. , Becker, James T. , Burke, James R. , Carrasquillo, Minerva M. , Chui, Helena C. , Crocco, Elizabeth , Dickson, Dennis W. , Duara, Ranjan , Galasko, Douglas , Ganguli, Mary , Ghetti, Bernardino , Head, Elizabeth , Honig, Lawrence S. , Hyman, Bradley T. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Pankratz, V. Shane , Potter, Huntington , Quinn, Joseph F. , Roberson, Erik D. , Seeley, William W. , Spina, Salvatore , Valladares, Otto , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Vardarajan, Badri Narayan , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Bennett, David A. , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Jarvik, Gail P , Paulson, Henry L , Stern, Robert A , Hardy, John , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
JAMA Neurology | September 8, 2014 | Volume: 71 | Issue: 11 | Pages: 1394
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity
Jahanshad, Neda , Rajagopalan, Priya , Hua, Xue , Hibar, Derrek P., Nir, Talia M. , Toga, Arthur W. , Jack, Clifford R., Saykin, Andrew J. , Weiner, Michael W. , Medland, Sarah E. , Montgomery, Grant W. , Hansell, Narelle K. , McMahon, Katie L. , Zubicaray, Greig I. de , Martin, Nicholas G. , Wright, Margaret J. , Thompson, Paul M. , Initiative, the Alzheimer’s Disease Neuroimaging, Aisen, Paul, Petersen, Ronald, Jagust, William J. , Trojanowski, John Q. , Toga, Arthur W., Green, Robert C., Liu, Enchi , Green, Robert C., Montine, Tom, Gamst, Anthony, Thomas, Ronald G. , Donohue, Michael, Walter, Sarah , Gessert, Devon, Sather, Tamie, Harvey, Danielle, Donohue, Michael, Kornak, John , Jack, Clifford R., Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene, DeCarli, Charles , Bandy, Dan, Foster, Norm, Reiman, Eric M. , Mathis, Chet, Cairns, Nigel J. , Taylor‐Reinwald, Lisa, Trojanowki, John Q., Shaw, Les, Korecka, Magdalena , Toga, Arthur W., Crawford, Karen , Neu, Scott, Khachaturian, Zaven S., Frank, R.T., Molchan, Susan, Quinn, Joseph, Lind, Betty, Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James, Vanderswag, Helen, Heidebrink, Judith L. , Johnson, Kris , Doody, Rachelle S., Chowdhury, Munir , Bell, Karen L. , Carroll, Maria , Leon, Sue, Mintun, Mark A., Schneider, Stacy, Marson, Daniel , Griffith, Randall, Clark, David, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo‐Morrell, Leyla, Duara, Ranjan , Varon, Daniel, Roberts, Peggy, Albert, Marilyn, Onyike, Chiadi, Kielb, Stephanie , Glodzik, Lidia , Santi, Susan De , Doraiswamy, P. Murali , Petrella, Jeffrey R. , Coleman, Robert E. , Arnold, Steven E. , Karlawish, Jason H., Smith, Charles D., Jicha, Gregory A. , Hardy, Peter , Lopez, Oscar L., Oakley, MaryAnn, Simpson, Donna M., Goldstein, Bonnie S., Martin, Kim, Makino, Kelly M., Ismail, M. Saleem , Brand, Connie, Mulnard, Ruth A., Thai, Gaby , Mc-Adams-Ortiz, Catherine, Mathews, Dana, Quiceno, Mary , King, Richard, Martin-Cook, Kristen, Devous, Michael D. , Cellar, Janet S., Anderson, Heather S., Swerdlow, Russell H. , Apostolova, Liana , Lu, Po H. , Bartzokis, George, Graff‐Radford, Neill R. , Parfitt, Francine, Farlow, Martin R. , Hake, Ann Marie , Matthews, Brandy R., Herring, Scott, Dyck, Christopher H. van , Carson, Richard E. , MacAvoy, Martha G., Chertkow, Howard , Bergman, Howard , Hosein, Chris, Caldwell, Curtis, Hsiung, Ging‐Yuek Robin , Feldman, Howard J., Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Mesulam, Marek-Marsel, Lipowski, Kristina, Wu, Chuang‐Kuo, Johnson, Nancy E., Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen, Reynolds, Brigid, Marshall, Gad A. , Frey, Meghan , Yesavage, Jerome A. , Taylor, Joy L. , Lane, Barton , Rosen, Allyson , Tinklenberg, Jared, Sabbagh, Marwan, Belden, Christine M. , Jacobson, Sandra A. , Kowall, Neil W. , Budson, Andrew E. , Johnson, Patricia Lynn, Wolday, Saba, Bwayo, Salome K., Lerner, Alan J. , Hudson, Leon, Ogrocki, Paula, Fletcher, Evan, Olichney, John , Kittur, Smita, Borrie, Michael, Lee, T.-Y., Bartha, Robert , Asthana, Sanjay , Carlsson, Cynthia M., Preda, Adrian , Tariot, Pierre N. , Fleisher, Adam , Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Kataki, Maria , Zimmerman, Earl A. , Celmins, Dzintra, Brown, Alice D., Blank, Karen, Anderson, Karen, Santulli, Robert B. , Schwartz, Eben S., Williamson, Jeff D. , Garg, Pradeep , Watkins, Franklin, Ott, Brian R. , Querfurth, Henry, Tremont, Geoffrey , Salloway, Stephen , Malloy, Paul, Correia, Stephen , Rosen, Howard J., Mintzer, Jacobo , Longmire, Crystal Flynn, Spicer, Kenneth, Rachinsky, Irina, Kertesz, Andrew, Drost, Dick, Lee, Ting‐Yim , Jack, Clifford R., Green, Robert C. , Initiative, the Alzheimer’s Disease Neuroimaging, Jack, Clifford R. , Toga, Arthur W., Beckett, Laurel , Green, Robert C., Morris, John C. , Green, Robert C., Donohue, Michael, Sather, Tamie, Donohue, Michael, Jack, Clifford R., Dale, Anders M. , Bernstein, Matt A. , Fox, Nick C. , Koeppe, Robert A. , Chen, Kewei , Mathis, Chet, Lee, Virginia M.‐Y. , Toga, Arthur W., Foroud, Tatiana , Potkin, Steven G. , Shen, Li , Snyder, Peter J. , Kaye, Jeffrey , Lord, Joanne L. , Villanueva-Meyer, Javier E. , Stern, Yaakov , Honig, Lawrence S. , Ances, Beau M. , Grossman, Hillel, Shah, Raj C. , Duara, Ranjan , Varón, Daniel , Rusinek, Henry , Leon, Mony J. de , Karlawish, Jason , Wolk, David A. , Porsteinsson, Anton P. , Womack, Kyle , Diaz‐Arrastia, Ramon , Weiner, Myron , Levey, Allan I. , Lah, James J. , Burns, Jeffrey M. , Silverman, Daniel H.S. , Johnson, Heather M. , Black, Sandra E. , Stefanovic, Bojana , Kertesz, Andrew, Kerwin, Diana , Martínez, Walter Fabián , Turner, Raymond Scott , Sperling, Reisa Anne , Johnson, Keith A. , Killiany, Ronald , Norbash, Alexander , Obisesan, Thomas O. , Carmichael, Owen , Johnson, Sterling C. , Nguyen, Dana R. , Reeder, Stephanie, Scharre, Douglas W. , Pearlson, Godfrey D. , Sink, Kaycee M. , Miller, Bruce L. , Finger, Elizabeth C. , Kertesz, Andrew, de Zubicaray, Greig I , Hansell, Narelle K , Saykin, Andrew J , Preda, Adrian , Martin, Nicholas G , Toga, Arthur W , Wright, Margaret J , Thompson, Paul M , Medland, Sarah E , Hsiung, Gink-Yuek , Jicha, Gregory A
Proceedings of the National Academy of Sciences | March 5, 2013 | Volume: 110 | Issue: 12 | Pages: 4768-4773
Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer’s disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, high-angular resolution diffusion MRI. We adapted GWASs to screen the brain’s connectivity pattern, allowing us to discover genetic variants that affect the human brain’s wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer’s disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism ( MACROD2 ), development ( NEDD4 ), and mental retardation ( UBE2A ) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases.
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
Blitterswijk, Marka van , Vlam, Lotte, Doormaal, Perry T.C. van , Seelen, Meinie, Medic, Jelena, Dooijes, Dennis , Visser, Marianne de, Kooi, Anneke J. van der , Raaphorst, Joost , Schelhaas, Helenius J. , Pol, W. Ludo van der , Veldink, Jan H. , Berg, Leonard H. van den , Aisen, Paul , Petersen, Ronald C., Clifford, R. Jack, Jagust, William, Trojanowki, John Q., Liu, Enchi , Montine, Tom, Gamst, Anthony, Thomas, Ronald G. , Walter, Sarah , Gessert, Devon, Sather, Tamie, Harvey, Danielle, Kornak, John , Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene, DeCarli, Charles, Bandy, Dan, Foster, Norm, Reiman, Eric M., Mathis, Chet, Cairns, Nigel J. , Taylor‐Reinwald, Lisa, Shaw, Les, Korecka, Magdalena , Crawford, Karen , Neu, Scott, Foroud, Tatiana, Potkin, Steven, Kachaturian, Zaven, Frank, R.T., Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James B., Vanderswag, Helen, Heidebrink, Judith L. , Petersen, Ronald C. , Johnson, Kris , Doody, Rachelle S., Villanueva‐Meyer, Javier , Chowdhury, Munir , Honig, Lawrence S., Bell, Karen L. , Mintun, Mark A., Schneider, Stacy, Marson, Daniel , Griffith, Randall, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo‐Morrell, Leyla, Duara, Ranjan , Varón, Daniel , Roberts, Peggy, Albert, Marilyn , Onyike, Chiadi U. , Kielb, Stephanie , Glodzik, Lidia , Doraiswamy, P. Murali , Petrella, Jeffrey R. , Arnold, Steven E. , Karlawish, Jason H., Smith, Charles D., Hardy, P. , Lopez, Oscar L., Oakley, MaryAnn, Simpson, Donna M., Ismail, M. Saleem, Brand, Connie, Mulnard, Ruth A., Thai, Gaby , Mc-Adams-Ortiz, Catherine, Martin-Cook, Kristen, Devous, Michael D. , Cellar, Janet S., Anderson, Heather S., Swerdlow, Russell H. , Bartzokis, George, Lu, Po H. , Apostolova, Liana G. , Graff‐Radford, Neill R. , Parfitt, Francine, Farlow, Martin, Herring, Scott, Hake, Ann Marie , Dyck, Christopher H. van , Carson, Richard E. , MacAvoy, Martha G., Chertkow, Howard, Bergman, Howard , Hosein, Chris, Black, Sandra, Caldwell, Curtis, Assaly, Michele, Kertesz, Andrew , Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Wu, Chuang‐Kuo, Johnson, Nancy E., Mesulam, Marsel, Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen A., Reynolds, Brigid, Sperling, Reisa A., Frey, Meghan , Johnson, Keith A. , Rosen, Allyson , Tinklenberg, Jared, Belden, Christine M. , Jacobson, Sandra A. , Wolday, Saba, Bwayo, Salome K., Lerner, Alan J. , Hudson, Leon, Ogrocki, Paula, Kittur, Smita, Borrie, Michael, Lee, T‐Y, Bartha, Robert , Asthana, Sanjay , Tariot, Pierre N. , Fleisher, Adam , Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Hendin, Barry , Kataki, Maria , Zimmerman, Earl A. , Celmins, Dzintra, Brown, Alice D., Blank, Karen, Anderson, Karen, Santulli, Robert B. , Schwartz, Eben S., Williamson, Jeff D. , Watkins, Franklin, Ott, Brian R. , Querfurth, Henry, Tremont, Geoffrey , Salloway, Stephen , Malloy, Paul, Correia, Stephen , Rosen, Howard J., Mintzer, Jacobo , Longmire, Crystal Flynn, Spicer, Kenneth, Kwon, Sun-Uck, Kim, Joon‐Tae , Cho, Ki-Hyun , Ko, Y.J., Lee, Soo Joo , Cha, Jae-Kwan, Shin, Dong-Jin, Jang, Hyuk Jae, Choi, Nack‐Cheon , Hong, Seok-Chang, Rha, Joung-Ho, Kim, Eung‐Gyu , Choi, Jay Chol , Shin, Won Chul , HyukHeo, Sung, Chung, Kyung Cheon, Lee, Jun Hong , Bae, Hee‐Joon , Lee, Tae‐Kyeong , Jeong, Dushin, Lee, Jun , Ashwal, Steve, deVeber, Gabrielle , Ichord, Rebecca , Kirkham, Fenella J. , Lynch, John K., O’Callaghan, Finbar , Pavlakis, Steve, Sébire, Guillaume , Willan, Andrew R. , Dlamini, Noma, Nowak-Göttl, Ulrike, Düring, Christine, Plumb, Patricia , Journeycake, Janna M., Bruinhorst, Katrina van de, Gossett, Daniel R., Chavez, Marta Isabel Hernandez, Barnes, Chris , Furmedge, Janine, Gordon, Anne , Benedict, Susan, Bale, James F. , Nielson, Denise, Kabbouche, Marielle A., Karti, Pooja, Phillips, Tonya, Rizkallah, Élie, Zamel, Khaled, Wiznitzer, Max , Lidsky, Karen , Bernard, Timothy J. , Goldenberg, Neil A. , Booth, Frances, Nash, Monica, Beslow, Lauren A. , Carpenter, Jessica L. , Weinstein, Steven L., Li, Kan , Smith, Robin, Maytal, Joseph, Sy-Kho, Rosemarie, Yager, Jerome Y. , Massicotte, Patti, McClure, Chalmer, Hukin, Juliet, Bucevska, Marija, Kent, Sheila, Riviello, James J. , Rivkin, Michael, Trenor, Cameron C. , Whelan, Harry T. , Goodman, Sharon, Levinson, Kim, Kolk, Anneli , Laugesaar, Rael , Talvik, Tiina, Imam, Hussain, Thomas, Terrence , Kirton, Adam , Ganesan, Vijeya , Saengpattrachai, Montri, Crosswell, Hal E., Mancuso, Ann, Yeh, E. Ann , Humpherys, Peter, Abraham, Lisa , Alveal, Lucila Andrade, Ortiz, Manuel Arriaza, Altuna, Diana, Maxit, Clarisa, González, Verónica , Alam, Muhammad Rafiqul , Buckley, David , Penney, Sharon, Grabowski, Eríc F. , Deray, Marcel J., Khatib, Zaid, Kosofsky, Barry E. , Leifer, Dana , Nass, Ruth, Wong, Virginia, Catsman, Coriene E. , El-Hakam, Lisa Michael, Cholette, Jill M., Narang, Shalu, Lerner, Norma B., Carpenter, Shannon L. , Bischoff, Kurt, Frei‐Jones, Melissa , Masur, David, Gallentine, William B., Rende, Elizabeth K., Provenzale, James, Voyvodic, James , Song, Allen W. , Conklin, Terrie, O’Hara, Kathryn, Seinfeld, Syndi, Conry, Joan A. , Ayala, Jennifer , Facchini, Ronda, Sigalova, Maryana, Hannigan, James, Mancini, Ann , Curran, John S. , Ahlm, Sarah, Renaldi, J., Umanzour, Diana K, Kim, Andrew, Hamidullah, Aaliyah, Litherland, Claire , Bonner, Melanie, Xu, Yuan , Water, Virginia Van de, Grasso, Susan, Culbert, James, Bush, Brian J., Chandrasekaran, Sreedevi, Davis, Lori L. , Rogers, Christiane, Sabo, Cynthia , Wang, Helen H. , Lee, Ting‐Yim , Rheenen, Wouter van , Huisman, Mark H. 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Neurology | July 27, 2012 | Volume: 79 | Issue: 9 | Pages: 878-882