Citations 27
O1‐08‐01: THE NIH‐EXAMINER IS SENSITIVE TO COGNITIVE CHANGES IN ASYMPTOMATIC AND MILDLY SYMPTOMATIC FAMILIAL FRONTOTEMPORAL DEMENTIA
Staffaroni, Adam M. , Bajorek, Lynn, Ljubenkov, Peter A. , Casaletto, Kaitlin B. , Rascovsky, Katya, Boxer, Adam L. , Bove, Jessica, Brushaber, Danielle , Coppola, Giovanni , Dheel, Christina, Dickerson, Brad C., Fields, Julie A. , Forsberg, Leah K. , Gavrilova, Ralitza H. , Gearhart, Debra, Ghoshal, Nupur , Radford, Jonathan Graff, Graff‐Radford, Neill R. , Haley, Dana , Heuer, Hilary W. , Huey, Edward D. , Jones, Lynne C. , Karydas, Anna M., Kornak, John , Lucente, Diane , Mackenzie, Ian R. , Manoochehri, Masood , Potter, Madeline, Rademakers, Rosa , Rankin, Katherine , Sutherland, Margaret , Syrjanen, Jeremy A. , Taylor, Joanne, Weıntraub, Sandra , Rosen, Howard J. , Kramer, Joel H. , Elahi, Fanny M. , Boeve, Bradley F. , Fong, Jamie , Goldman, Jill , Grossman, Murray , Hsiao, John , Hsiung, Ging‐Yuek Robin , Irwin, David J. , Jones, David T. , Jones, Lynne, Kantarci, Kejal , Knopman, David S. , Kremers, Walter K. , Kukull, Walter A. , Lapid, Maria I. , Miller, Bruce L. , Wszołek, Zbigniew K.
Alzheimer's & Dementia | October 22, 2018 | Volume: 14 | Issue: 7S_Part_4 | Pages: No page available
P1‐433: GRAY MATTER DEFICITS IN SYMPTOMATIC AND PRESYMPTOMATIC MAPT MUTATION CARRIERS
Chu, Stephanie A. , Flagan, Taru , Papma, Janne M. , Deng, Jersey, Rosen, Howard J. , Boxer, Adam L. , Heuer, Hilary W. , Brushaber, Danielle , Coppola, Giovanni , Dickerson, Brad C., Bordelon, Yvette , Dheel, Christina, Faber, Kelley , Fields, Julie A. , Foroud, Tatiana M., Forsberg, Leah K. , Gavrilova, Ralitza H. , Ghoshal, Nupur , Graff‐Radford, Neill R. , Huey, Edward D. , Kaufer, Daniel , Karydas, Anna M., Klein, Alex, Kornak, John , Kramer, Joel H. , Laxineta, Samara, Mackenzie, Ian R. , Mendez, Mario F. , Onyike, Chiadi U. , Pantelyat, Alex, Potter, Madeline, Rademakers, Rosa , Tatton, Nadine , Vetor, Ashley, Weıntraub, Sandra , Lee, Suzee E. , Jiskoot, Lize C. , Seeley, William W. , Boeve, Bradley F. , Grossman, Murray , Feldman, Howard , Fong, Jamie , Hsiung, Ging‐Yuek Robin , Irwin, David J. , Kantarci, Kejal , Klein, Alex, Knopman, David S. , Kukull, Walter A. , Lapid, Maria I. , Litvan, Irene , Miller, Bruce L. , Roberson, Erik D. , Tartaglia, Maria Carmela , Toga, Arthur W. , Wszołek, Zbigniew K. , Swieten, John C. van
Alzheimer's & Dementia | October 22, 2018 | Volume: 14 | Issue: 7S_Part_8 | Pages: No page available
P1‐419: USING A BRAIN NETWORK APPROACH TO PREDICT GENETIC MUTATION IN INDIVIDUAL PATIENTS WITH FAMILIAL FRONTOTEMPORAL DEMENTIA
Touroutoglou, Alexandra , Brickhouse, Michael , Krivensky, Samantha, Getchell, Katelynn, Lucente, Diane , McGinnis, Scott M., Dickerson, Brad C., Rosen, Howard J. , Boxer, Adam L. , Bove, Jessica, Brushaber, Danielle , Coppola, Giovanni , Dheel, Christina, Dickinson, Susan, Faber, Kelley, Fields, Julie A. , Forsberg, Leah K. , Gavrilova, Ralitza H. , Gearhart, Debra, Ghoshal, Nupur , Graff‐Radford, Jonathan , Graff‐Radford, Neill R. , Grossman, Murray, Haley, Dana , Heuer, Hilary W. , Huey, Edward D. , Jones, Lynne C. , Karydas, Anna M., Kornak, John , Kramer, Joel H. , Mackenzie, Ian R. , Manoochehri, Masood , Pearlman, Rodney , Potter, Madeline, Rademakers, Rosa , Rankin, Katherine , Rascovsky, Katya, Sengdy, Pheth, Shaw, Leslie M. , Sutherland, Margaret , Syrjanen, Jeremy A. , Tatton, Nadine , Taylor, Joanne, Trojanowski, John Q. , Weıntraub, Sandra , Boeve, Bradley F. , Fong, Jamie , Foroud, Tatiana , Goldman, Jill , Hsiao, John , Irwin, David J. , Jones, David T. , Jones, Lynne, Kantarci, Kejal , Knopman, David S. , Kremers, Walter K. , Kukull, Walter A. , Lapid, Maria I. , Miller, Bruce L. , Toga, Arthur W. , Wszołek, Zbigniew K.
Alzheimer's & Dementia | October 22, 2018 | Volume: 14 | Issue: 7S_Part_8 | Pages: No page available
P1‐281: NONLINEAR N‐SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM THE NATIONAL ALZHEIMER'S COORDINATING CENTER (NACC) DATASET
Kornak, John , Fields, Julie A. , Farmer, Sarah, Rosen, Howard J. , Boxer, Adam L. , Bove, Jessica, Brushaber, Danielle , Coppola, Giovanni , Dheel, Christina, Dickerson, Brad C., Dickinson, Susan, Faber, Kelley, Forsberg, Leah K. , Gavrilova, Ralitza H. , Gearhart, Debra, Ghoshal, Nupur , Graff‐Radford, Jonathan , Graff‐Radford, Neill R. , Haley, Dana , Heuer, Hilary W. , Huey, Edward D. , Jones, Lynne C. , Karydas, Anna M., Kramer, Joel H. , Lucente, Diane , Mackenzie, Ian R. , Manoochehri, Masood , Pearlman, Rodney , Petrucelli, Leonard , Potter, Madeline, Rademakers, Rosa , Rankin, Katherine , Rascovsky, Katya, Sengdy, Pheth, Shaw, Leslie M. , Sutherland, Margaret , Syrjanen, Jeremy A. , Tatton, Nadine , Taylor, Joanne, Trojanowski, John Q. , Weıntraub, Sandra , Boeve, Bradley F. , Fong, Jamie , Foroud, Tatiana , Goldman, Jill , Grossman, Murray , Hsiao, John , Hsiung, Ging‐Yuek Robin , Irwin, David J. , Jones, David T. , Jones, Lynne, Kantarci, Kejal , Knopman, David S. , Kremers, Walter K. , Kukull, Walter A. , Lapid, Maria I. , Miller, Bruce L. , Toga, Arthur W. , Wszołek, Zbigniew K.
Alzheimer's & Dementia | October 22, 2018 | Volume: 14 | Issue: 7S_Part_7 | Pages: No page available
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.
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
Finch, NiCole A., Carrasquillo, Minerva M. , Rutherford, Nicola J., Coppola, Giovanni , DeJesus‐Hernandez, Mariely, Hunter, T. , Ghidoni, Roberta , Benussi, Luisa , Finger, Elizabeth , Hantanpaa, K.J., Karydas, Anna M., Sengdy, Pheth, Johnson, Nancy , Beach, Thomas G. , Forloni, Gianluigi , Kertesz, Andrew , Uitti, Ryan J. , White, Charles L. , Caselli, Richard J. , Lippa, Carol F. , Bigio, Eileen H. , Binetti, Giuliano , Mackenzie, Ian R. , Younkin, Steven G., Dickson, Dennis W. , Petersen, Ronald C., Graff‐Radford, Neill R. , Geschwind, Daniel H. , Rademakers, Rosa , Carrasquillo, Minerva M. , Baker, Matthew , Crook, Richard , Crook, Julia E. , Finger, Elizabeth C. , González, John T. , Seeley, William W. , Mesulam, Marsel M. , Knopman, David S. , Wszołek, Zbigniew K. , Miller, Bruce L. , Boeve, Bradley F. , Dickson, Dennis W , White, Charles L
Neurology | December 22, 2010 | Volume: 76 | Issue: 5 | Pages: 467-474