Citations 118
IC‐P‐042: Influence of rare reelin variants on quantitative PET imaging and CSF phenotypes in late‐onset Alzheimer's disease
Aisen, Paul, Petersen, Ronald , Jagust, William J. , Shaw, Leslie M. , Trojanowski, John Q., Weiner, Michael W. , Greicius, Michael D. , Nho, Kwangsik T. , Kim, Sungeun , Risacher, Shannon L. , Foroud, Tatiana , Jack, Clifford R. , Trojanowski, John Q., Green, Robert C. , Toga, Arthur W. , Saykin, Andrew J.
Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_1 | Pages: No page available
P1‐059: MAPT haplotypes modify the association between head injury and risk of Alzheimer's disease
Bird, Thomas D., Boeve, Bradley, Schaid, Daniel J. , Taner, Nilüfer, Allen, Mariet , Barral, Sandra, Graff-Radford, N. R., Faber, Kelly, Farlow, Martin R. , Rosenberg, Roger N., Rumbaugh, Malia, Sano, Mary , Schellenberg, Gerard D. , Silverman, Jeremy M. , Mayeux, Richard , Tsuang, Debby W. , Vardarajan, Badri Narayan , Bennett, David A. , Cruchaga, Carlos , Goate, Alison , Foroud, Tatiana , Ottman, Ruth , Sweet, Robert A.
Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_8 | Pages: No page available
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS)
Investigators, The Huntington Study Group PHAROS, Biglan, Kevin , Shoulson, Ira , Kieburtz, Karl , Oakes, David , Kayson, Elise, Shinaman, M. Aileen, Zhao, Hongwei , Romer, Megan, Young, Anne B., Hersch, Steven M. , Penney, Jack, Marder, Karen, Paulsen, Jane S. , Quaid, Kimberly A., Siemers, Eric , Mallonee, William, Suter, Greg, Dubinsky, Richard , Nance, Martha , Bundlie, Scott R., Radtke, Dawn, Kostyk, Sandra K. , Baic, Corrine, Walker, Francis O. , Hunt, Victoria, Chouinard, Sylvain, Wood‐Siverio, Cathy, Corey‐Bloom, Jody , Peavy, Guerry M. , Moskowitz, Carol, Wesson, Melissa, Samii, Ali, Bird, Thomas D. , Lipe, Hillary, Blindauer, Karen, Marshall, Frederick J., Zimmerman, Carol, Goldstein, Jody, Rosas, Diana, Novák, Péter , Caviness, John N., Duffy, Amy, Wheelock, Vicki, Tempkin, Teresa, Seeberger, Lauren , Albin, Roger L. , Racette, Brad A. , Perlman, Susan , Bordelon, Yvette , Martin, W. R. Wayne , Wieler, Marguerite , Raymond, Lynn A. , Decolongon, Joji, Hunter, Christine , Hauser, Robert A. , Furtado, Sarah , Suchowersky, Oksana , Klimek, Mary Lou, Guttman, Mark, Sethna, Rustom, Feigin, Andrew, Cox, Marie, Shannon, Barbara , Percy, Alan K. , Dure, Leon , Harrison, Madaline B. , Higgins, Donald S. , Molho, Eric , Nickerson, Constance, Evans, Sharon, Hobson, Douglas, Singer, Carlos , Gálvez-Jiménez, Néstor, Shannon, Kathleen M. , Comella, Cynthia , Ross, Christopher A. , Hogarth, Penelope , Weiner, William J., Como, Peter G., Kumar, Rajeev , Cotto, Candace, Stout, Julie C. , Brocht, Alicia, Watts, Arthur, Eberly, Shirley , Weaver, Christine , Gusella, James F. , MacDonald, Marcy E., Fahn, Stanley, Shults, Clifford W., Caviness, John, Investigators, The Huntington Study Group PHAROS, Tanner, Caroline M. , Gray, Carolyn Steele , Baic, Corrine L., Caress, James B. , O’Neill, Christine J. , Factor, Stewart Alan , Greenamyre, J. Timothy , Song, David , Adler, Charles H. , Richman, David P. , Chou, Kelvin L. , Perlmutter, Joel S. , Leavitt, Blair R. , Clarke, Lorne A. , Jankovic, Joseph J. , Sanchez‐Ramos, Juan , Johnson, William , Saint‐Hilaire, Marie , Testa, Claudia M. , Rosenblatt, Adam E , Foroud, Tatiana , Myers, Richard H. , Ross, Christopher A , Hauser, Robert A
JAMA Neurology | November 16, 2015 | Volume: 73 | Issue: 1 | Pages: 102
Memory, executive, and multidomain subtle cognitive impairment
Toledo, Jon B. , Bjerke, Maria , Rozycki, Martin, Jack, Clifford R. , Weiner, Michael W. , Arnold, Steven E. , Reiman, Eric M. , Davatzikos, Christos , Shaw, Leslie M. , Trojanowski, John Q. , Initiative, For the Alzheimer's Disease Neuroimaging, Weiner, Michael, Aisen, Paul , Weiner, Michael, Petersen, Ronald, Jagust, William, Trojanowki, John Q., Green, Robert C., Saykin, Andrew J., Liu, Enchi , Green, Robert C., Montine, Tom, Petersen, Ronald, Gamst, Anthony, Thomas, Ronald G. , Walter, Sarah , Gessert, Devon, Sather, Tamie, Kornak, John , Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene E. , DeCarli, Charles, Jagust, William, Bandy, Dan, Foster, Norm, Reiman, Eric M., Mathis, Chet, Cairns, Nigel J. , Taylor‐Reinwald, Lisa, Shaw, Les, Korecka, Magdalena , Crawford, Karen , Neu, Scott, Potkin, Steven, Kachaturian, Zaven, Frank, Richard , Molchan, Susan, Quinn, Joseph, Lind, Betty, Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James, Vanderswag, Helen, Heidebrink, Judith L. , Petersen, Ronald, Johnson, Kris , Doody, Rachelle S., Chowdhury, Munir , Bell, Karen L. , Leon, Sue, 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, R. Edward, Arnold, Steven E., Karlawish, Jason , Smith, Charles D., Jicha, Gregory A. , Hardy, Peter , 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, Weiner, Myron, 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 , Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Mesulam, Marek-Marsel, Lipowski, Kristina, Wu, Chuang‐Kuo, Johnson, Nancy , Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen, Reynolds, Brigid, Johnson, Keith A. , Marshall, Gad A. , Frey, Meghan , Yesavage, Jerome A. , Taylor, Joy L. , Lane, Barton , Rosen, Allyson , Tinklenberg, Jared, Sabbagh, Marwan N. , 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, Dr Rob, 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, Saykin, Andrew J., 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, Rogers, John, Kertesz, Andrew, Drost, Dick, Hernando, Raymundo, Sarrael, Antero, Schultz, Susan K. , Ponto, Laura L. Boles , Shim, Hyungsub , Smith, Karen E. , Relkin, Norman , Chaing, Gloria, Raudin, Lisa, Smith, Amanda , Fargher, Kristin, Raj, Balebail Ashok, Chen, Kewei , Initiative, For the Alzheimer's Disease Neuroimaging, Weiner, Michael, Weiner, Michael, Petersen, Ronald, Jagust, William, Toga, Arthur W. , Beckett, Laurel , Green, Robert C., Saykin, Andrew J., Morris, John C. , Green, Robert C., Petersen, Ronald, Donohue, Michael , Harvey, Danielle , Dale, Anders M. , Bernstein, Matt A. , Fox, Nick C. , Thompson, Paul M. , Jagust, William, Koeppe, Robert A. , Foster, Norm, Reiman, Eric M., Mathis, Chet, Lee, Virginia M.‐Y. , Saykin, Andrew J. , Foroud, Tatiana , Shen, Li , Snyder, Peter J. , Kaye, Jeffrey , Lord, Joanne L. , Petersen, Ronald, Villanueva-Meyer, Javier E. , Stern, Yaakov , Honig, Lawrence S. , Ances, Beau M. , Shah, Raj C. , Duara, Ranjan , Varón, Daniel , Rusinek, Henry , Leon, Mony J. de , Arnold, Steven E., Wolk, David A. , López, Oscar L. , Porsteinsson, Anton P. , Womack, Kyle , Diaz‐Arrastia, Ramon , Levey, Allan I. , Lah, James J. , Burns, Jeffrey M. , Silverman, Daniel H.S. , Johnson, Heather K. , Black, Sandra E. , Stefanovic, Bojana , Feldman, Howard , Kertesz, Andrew, Rogers, John, Kerwin, Diana , Martínez, Walter Fabián , Turner, Raymond Scott , Sperling, Reisa Anne , Killiany, Ronald , Norbash, Alexander , Obisesan, Thomas O. , Carmichael, Owen , Johnson, Sterling C. , Carlsson, Cynthia M. , Potkin, Steven G. , Nguyen, Dana R. , Reeder, Stephanie, Scharre, Douglas W. , Pearlson, Godfrey D. , Saykin, Andrew J., Sink, Kaycee M. , Miller, Bruce L. , Finger, Elizabeth C. , Rogers, John, Kertesz, Andrew, Jack, Clifford R , Preda, Adrian , Hsiung, Gink-Yuek , Jicha, Gregory A
Neurology | June 18, 2015 | Volume: 85 | Issue: 2 | Pages: 144-153
Global and local ancestry in African‐Americans: Implications for Alzheimer's disease risk
Hohman, Timothy J. , Bailey, Jessica N. Cooke , Reitz, Christiane , Jun, Gyungah , Beecham, Gary W. , Carney, Regina M., Vance, Jeffery M. , Rajbhandary, Ruchita, Lin, Chiao‐Feng , Larson, Eric B., Graff‐Radford, Neill R. , Evans, Denis A., Jager, Philip L. De , Crane, Paul K. , Buxbaum, Joseph D. , Murrell, Jill R. , Raj, Towfique , Ertekin‐Taner, Nilüfer , Baldwin, Clinton T., Green, Robert C. , Barnes, Lisa L. , Cantwell, Laura B., Fallin, M. Daniele , Go, Rodney C.P., Griffith, Patrick , Obisesan, Thomas O. , Lunetta, Kathryn L. , Kamboh, M. Ilyas , Bennett, David A. , Hardy, John , Hendrie, Hugh C. , Hall, Kathleen, Goate, Alison , Lang, Rosalyn, Byrd, Goldie S. , Kukull, Walter A. , Farrer, Lindsay A. , Martin, Eden R. , Pericak‐Vance, Margaret A. , Schellenberg, Gerard D. , Mayeux, Richard , Haines, Jonathan L. , Thornton‐Wells, Tricia A., Carroll, Steven L. , Bennett, David A. , Naj, Adam Christian , Liu, Zhi , Cuccaro, Michael L. , Vardarajan, Badri Narayan , Wang, Weixin , Valladares, Otto , Logue, Mark W. , Manly, Jennifer J. , López, Oscar L. , Foroud, Tatiana , Seto, Mabel , Hardy, John , Goate, Alison M , Barnes, Lisa L
Alzheimer's & Dementia | June 16, 2015 | Volume: 12 | Issue: 3 | Pages: 233-243
AbstractIntroductionAfrican‐American (AA) individuals have a higher risk for late‐onset Alzheimer's disease (LOAD) than Americans of primarily European ancestry (EA). Recently, the largest genome‐wide association study in AAs to date confirmed that six of the Alzheimer's disease (AD)‐related genetic variants originally discovered in EA cohorts are also risk variants in AA; however, the risk attributable to many of the loci (e.g., APOE, ABCA7) differed substantially from previous studies in EA. There likely are risk variants of higher frequency in AAs that have not been discovered.MethodsWe performed a comprehensive analysis of genetically determined local and global ancestry in AAs with regard to LOAD status.ResultsCompared to controls, LOAD cases showed higher levels of African ancestry, both globally and at several LOAD relevant loci, which explained risk for AD beyond global differences.DiscussionExploratory post hoc analyses highlight regions with greatest differences in ancestry as potential candidate regions for future genetic analyses.
APOE effect on Alzheimer's disease biomarkers in older adults with significant memory concern
Risacher, Shannon L. , Kim, Sungeun , Shen, Li , Petersen, Ronald C. , Jack, Clifford R. , Aisen, Paul , Jagust, William J. , Shaw, Leslie M. , Trojanowski, John Q., Weiner, Michael W. , Saykin, Andrew J. , (ADNI), Alzheimer's Disease Neuroimaging Initiative, Nho, Kwangsik T. , Foroud, Tatiana , Beckett, Laurel , Koeppe, Robert A. , Trojanowski, John Q., (ADNI), Alzheimer's Disease Neuroimaging Initiative, Jack, Clifford R , Saykin, Andrew J , Shen, Li
Alzheimer's & Dementia | May 7, 2015 | Volume: 11 | Issue: 12 | Pages: 1417-1429
Abstract Introduction This study assessed apolipoprotein E ( APOE ) ε4 carrier status effects on Alzheimer's disease imaging and cerebrospinal fluid (CSF) biomarkers in cognitively normal older adults with significant memory concerns (SMC). Methods Cognitively normal, SMC, and early mild cognitive impairment participants from Alzheimer's Disease Neuroimaging Initiative were divided by APOE ε4 carrier status. Diagnostic and APOE effects were evaluated with emphasis on SMC. Additional analyses in SMC evaluated the effect of the interaction between APOE and [ 18 F]Florbetapir amyloid positivity on CSF biomarkers. Results SMC ε4+ showed greater amyloid deposition than SMC ε4−, but no hypometabolism or medial temporal lobe (MTL) atrophy. SMC ε4+ showed lower amyloid beta 1–42 and higher tau/p‐tau than ε4−, which was most abnormal in APOE ε4+ and cerebral amyloid positive SMC. Discussion SMC APOE ε4+ show abnormal changes in amyloid and tau biomarkers, but no hypometabolism or MTL neurodegeneration, reflecting the at‐risk nature of the SMC group and the importance of APOE in mediating this risk.
Variants associated with Gaucher disease in multiple system atrophy
Mitsui, Jun , Sasaki, Hidenao , Matsushima, Masaaki , Brice, Alexis , Kikuchi, Akio , Aoki, Masashi , Ishiura, Hiroyuki , Yasuda, Tsutomu , Date, Hidetoshi, Ahsan, Budrul , Iwata, Atsushi , Goto, Jun , Ichikawa, Yaeko, Nakahara, Yasuo , Momose, Yoshio, Takahashi, Yūji , Hara, Kenju , Kakita, Akiyoshi , Yamada, Mitsunori , Nishizawa, Masatoyo , Ito, Mizuki , Sobue, Gen , Ishikawa, Kinya , Mizusawa, Hidehiro, Kanai, Kazuaki , Hattori, Takamichi, Arai, Kimihito , Koyano, Shigeru , Kuroiwa, Yoshiyuki , Hasegawa, Kazuko, Yuasa, Tatsuhiko, Yasui, Kenichi, Ito, Hijiri, Izumi, Yuishin , Kaji, Ryuji , Kato, Takeo , Kusunoki, Susumu , Osaki, Yasushi , Horiuchi, Masahiro , Kondo, Tomoyoshi, Murayama, Shigeo , Hattori, Nobutaka , Yamamoto, Mitsutoshi, Miho, Murata, Satake, Wataru , Filla, Alessandro , Klockgether, Thomas , Gilman, Sid, Kukull, Walter A. , Stern, Mathew B., Trojanowski, John Q. , Masliah, Eliezer , Low, Phillip A. , Sandroni, Paola , Ozelius, Laurie J. , Matsukawa, Takashi , Yabe, Ichiro , Dürr, Alexandra , Takashima, Hiroshi , Takahashi, Hitoshi , Onodera, Osamu , Watanabe, Hirohisa , Kuwabara, Satoshi , Nakashima, Kenji , Toda, Tatsushi , Wüllner, Ullrich , Nicholson, Garth A. , Tanner, Caroline M. , Lee, Virginia M.‐Y. , Foroud, Tatiana , Tsuji, Shoji , Brice, Alexis
Annals of Clinical and Translational Neurology | February 28, 2015 | Volume: 2 | Issue: 4 | Pages: 417-426
PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease
Beecham, Gary W. , Scott, William K. , Martin, Eden R. , Schellenberg, Gerard, Nuytemans, Karen , Buxbaum, Joseph D. , Trojanowski, John Q. , Hurtig, Howard I., Mash, Deborah C. , Beach, Thomas G. , Troncoso, Juan C. , Pletniková, Olga , Frosch, Matthew P. , Marder, Karen, Vonsattel, Jean Paul, Goldman, Samuel M. , Vinters, Harry V. , Ross, Owen A. , Wang, Liyong , Dykxhoorn, Derek M. , Pericak‐Vance, Margaret A. , Montine, Thomas J. , Leverenz, James B. , Dawson, Ted M. , Vance, Jeffery M. , Van Deerlin, Vivianna M, Pericak-Vance, Margaret A, Dickson, Dennis W. , Larson, Eric B. , Deerlin, Vivianna M. Van , Ghetti, Bernardino , Foroud, Tatiana , Honig, Lawrence S. , Wszołek, Zbigniew K. , Ross, Owen A , Leverenz, James B
Neurology | February 7, 2015 | Volume: 84 | Issue: 10 | Pages: 972-980
Brain amyloidosis ascertainment from cognitive, imaging, and peripheral blood protein measures
Apostolova, Liana G. , Hwang, Kristy , Ávila, David, Elashoff, David , Kohannim, Omid , Teng, Edmond , Sokolow, Sophie , Jack, Clifford R. , Jagust, William, Shaw, Leslie M. , Trojanowski, John Q. , Weiner, Michael W. , Thompson, Paul M. , Initiative, For the Alzheimer's Disease Neuroimaging, Aisen, Paul, Petersen, Ronald , Jagust, Wiliam, Trojanowki, John Q., Gamst, Anthony, Sakin, Andrew J., Potter, William Z., Montine, Tom, Walter, Sarah , Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene E. , DeCarli, Charles, Bandy, Dan, Foster, Norm, Reiman, Eric M. , Mathis, Chet, Cairns, Nigel J., Taylor‐Reinwald, Lisa, Shaw, Lee, Korecka, Magdalena , Crawford, Karen , Neu, Scott, Kornak, John , Kachaturian, Zaven, Frank, Richard , Molchan, Susan, Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James B., Vanderswag, Helen, Heidebrink, Judith L. , Johnson, Kris , Doody, Rachelle S., Villanueva‐Meyer, Javier , Chowdhury, Munir , Bell, Karen L. , Mintun, Mark A., Schneider, Stacy, Marson, Daniel , Griffith, Randall, Grossman, Hillel, Marzloff, George, deToledo‐Morrell, Leyla, Duara, Ranjan , Varón, Daniel , Robers, Peggy, Albert, Marilyn S. , Kozauer, Nicholas, Zerrate, Maria, Santi, Susan M De, Doraiswamy, P. Murali , Petrella, Jeffrey R. , Aiello, Marilyn, Karlawish, Jason , Smith, Charles D., Given, Curtis A., Hardy, Peter , Oakley, MaryAnn, Simpson, Donna M., Ismail, M. Saleem , Brand, Connie, Richard, Jennifer, Mulnard, Ruth A., Thai, Gaby , Mc-Adams-Ortiz, Catherine, Martin-Cook, Kristen, Devous, Michael D. , Cellar, Janet S., Anderson, Heather S., Laubinger, Mary M., Graff‐Radford, Neill R. , Parfitt, Francine, Farlow, Martin R. , Herring, Scott, Hake, Ann Marie , Dyck, Christopher H. van , MacAvoy, Martha G., Benincasa, Amanda L., Chertkow, Howard, Bergman, Howard , Hosein, Chris, Caldwell, Curtis, Hsiung, Ging‐Yuek Robin , Assaly, Michele, Kertesz, Andrew , Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Wu, Chuang‐Kuo, Johnson, Nancy , Mesulam, Marsel, Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen, Reynolds, Brigid, Rosen, Allyson , Tinklenberg, Jared, Ashford, Wes, Sabbagh, Marwan N. , Connor, Donald J., Jacobson, Sandra A. , Jayam‐Trouth, Annapurni , Lerner, Alan J. , Hudson, Leon, Ogrocki, Paula, Kittur, Smita, Borrie, Michael, Lee, T‐Y, Asthana, Sanjay , Carlsson, Cynthia M., Preda, Adrian , 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. , Englert, Jessica, Williamson, Jeff D. , Sing, Kaycee M., Watkins, Franklin, Ott, Brian R. , Stopa, Edward G., Tremont, Geoffrey , Salloway, Stephen , Malloy, Paul, Correia, Stephen , Rosen, Howard J. , Mintzer, Jacobo , Longmire, Crystal Flynn, Spicer, Kenneth, Hwang, Kristy S, Shaw, Leslie, Initiative, For the Alzheimer's Disease Neuroimaging, Toga, Arthur W. , Beckett, Laurel , Green, Robert C. , Morris, John C. , Donohue, Michael , Dale, Anders M. , Bernstein, Matt A. , Fox, Nick C. , Koeppe, Robert A. , Chen, Kewei , Mathis, Chet, Lee, Virginia M.‐Y. , Harvey, Danielle , Foroud, Tatiana , Potkin, Steven G. , Shen, Li , Snyder, Peter J. , Kaye, Jeffrey , Quinn, Joseph F. , Lord, Joanne L. , Stern, Yaakov , Honig, Lawrence S. , Clark, David , Tang, Cheuk Ying , Shah, Raj C. , Duara, Ranjan , Rusinek, Henry , Leon, Mony J. de , Arnold, S. R. , Wolk, David A. , López, Oscar L. , Diaz‐Arrastia, Ramon , Levey, Allan I. , Lah, James J. , Burns, Jeffrey M. , Silverman, Daniel H.S. , Johnson, Heather K. , Black, Sandra E. , Stefanovic, Bojana , Feldman, Howard , Martínez, Walter Fabián , Turner, Raymond Scott , Sperling, Reisa Anne , Rentz, Dorene M. , Johnson, Keith A. , Killiany, Ronald , Norbash, Alexander , Nair, Anil K. , Obisesan, Thomas O. , Wang, Paul C. , Fletcher, Evan M. , Carmichael, Owen , Bartha, Robert , Johnson, Sterling C. , Carlsson, Cynthia M. , Nguyen, Dana R. , Reeder, Stephanie, Scharre, Douglas W. , Pearlson, Godfrey D. , Sing, Kaycee M., Miller, Bruce L. , Jack, Clifford R , Preda, Adrian , Thompson, Paul M , Hsiung, Gink-Yuek
Neurology | January 22, 2015 | Volume: 84 | Issue: 7 | Pages: 729-737
Protective variant for hippocampal atrophy identified by whole exome sequencing
Kim, Sungeun , Risacher, Shannon L. , Shen, Li , Corneveaux, Jason J., Swaminathan, Shanker , Lin, Hai , Inlow, Mark , Siniard, Ashley L., Reiman, Rebecca, Aisen, Paul, Petersen, Ronald , Jack, Clifford R. , Weiner, Michael W. , Baldwin, Clinton T., Lunetta, Kathryn L. , Farrer, Lindsay A. , Furney, Simon J. , Lovestone, Simon , Simmons, Andrew , Mecocci, Patrizia , Vellas, Bruno , Tsolaki, Magda , Kłoszewska, Iwona, McDonald, Brenna C. , Farlow, Martin R. , Study, for the Indiana Memory and Aging, Huentelman, Matthew J. , Saykin, Andrew J. , Initiative, for the Alzheimer's Disease Neuroimaging, Nho, Kwangsik T. , Ramanan, Vijay K. , Liu, Yunlong , Foroud, Tatiana , Green, Robert C. , Soininen, Hilkka S. , Ghetti, Bernardino , Study, for the Indiana Memory and Aging, Initiative, for the Alzheimer's Disease Neuroimaging, Jack, Clifford R , Saykin, Andrew J , Shen, Li , Tsolaki, Magda , Mecocci, Patrizia
Annals of Neurology | January 5, 2015 | Volume: 77 | Issue: 3 | Pages: 547-552
We used whole‐exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in‐silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole‐brain analysis and meta‐analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimer's disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next‐generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets. Ann Neurol 2015;77:547–552