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52. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Author

Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D

Published
2020
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55. Mapping cognitive trajectories in older adults with essential tremor

Author

Dargie, Samantha A., primary, Chapman, Silvia, additional, Nguyen, Diep, additional, Berry, Diane S., additional, Ghanem, Ali, additional, Powell, Allison, additional, Rizer, Sandra, additional, Tsapanou, Angeliki, additional, Huey, Edward D., additional, Louis, Elan D., additional, and Cosentino, Stephanie, additional

Published
2023
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58. P3‐309: Advancing research and treatment of frontotemporal lobar degeneration (ARTFL): Preparing for clinical trials for ftld in north america

Author

Boxer, Adam L, Rosen, Howard J, Boeve, Bradley, Bordelon, Yvette M, Coppola, Giovanni, Dickerson, Brad, Ghoshal, Nupur, Graff-Radford, Neil, Grossman, Murray, Hsiung, Ging-Yuek Robin, Huey, Edward D, Irwin, David J, Litvan, Irene, Kaufer, Daniel, Knopman, David S, Kornak, John, Mackenzie, Ian, Mendez, Mario, Miller, Bruce L, Onyike, Chiadi U, Rademakers, Rosa, Tartaglia, Carmela, and Weintraub, Sandra

Subjects
Clinical Sciences, Neurosciences, Geriatrics
Published
2015

59. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Author

Kouri, Naomi, Ross, Owen A, Dombroski, Beth, Younkin, Curtis S, Serie, Daniel J, Soto-Ortolaza, Alexandra, Baker, Matthew, Finch, Ni Cole A, Yoon, Hyejin, Kim, Jungsu, Fujioka, Shinsuke, McLean, Catriona A, Ghetti, Bernardino, Spina, Salvatore, Cantwell, Laura B, Farlow, Martin R, Grafman, Jordan, Huey, Edward D, Ryung Han, Mi, Beecher, Sherry, Geller, Evan T, Kretzschmar, Hans A, Roeber, Sigrun, Gearing, Marla, Juncos, Jorge L, Vonsattel, Jean Paul G, Van Deerlin, Vivianna M, Grossman, Murray, Hurtig, Howard I, Gross, Rachel G, Arnold, Steven E, Trojanowski, John Q, Lee, Virginia M, Wenning, Gregor K, White, Charles L, Höglinger, Günter U, Müller, Ulrich, Devlin, Bernie, Golbe, Lawrence I, Crook, Julia, Parisi, Joseph E, Boeve, Bradley F, Josephs, Keith A, Wszolek, Zbigniew K, Uitti, Ryan J, Graff-Radford, Neill R, Litvan, Irene, Younkin, Steven G, Wang, Li-San, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hakonarsen, Hakon, Schellenberg, Gerard D, and Dickson, Dennis W

Subjects
Cerebral Cortex, Humans, Basal Ganglia Diseases, Supranuclear Palsy, Progressive, Neurodegenerative Diseases, Kinesin, SOS1 Protein, tau Proteins, Myelin Proteins, Case-Control Studies, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, RNA, Long Noncoding, and over, Polymorphism, Single Nucleotide, RNA, Long Noncoding, Supranuclear Palsy, Progressive
Abstract

Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

Published
2015

60. New directions in clinical trials for frontotemporal lobar degeneration: Methods and outcome measures

Author

Boxer, Adam L., Gold, Michael, Feldman, Howard, Boeve, Bradley F., Dickinson, Susan L.-J., Fillit, Howard, Ho, Carole, Paul, Robert, Pearlman, Rodney, Sutherland, Margaret, Verma, Ajay, Arneric, Stephen P., Alexander, Brian M., Dickerson, Bradford C., Dorsey, Earl Ray, Grossman, Murray, Huey, Edward D., Irizarry, Michael C., Marks, William J., Masellis, Mario, McFarland, Frances, Niehoff, Debra, Onyike, Chiadi U., Paganoni, Sabrina, Panzara, Michael A., Rockwood, Kenneth, Rohrer, Jonathan D., Rosen, Howard, Schuck, Robert N., Soares, Holly D., and Tatton, Nadine

Published
2019
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62. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

Author

Staffaroni, Adam M., Cobigo, Yann, Goh, Sheng-Yang M., Kornak, John, Bajorek, Lynn, Chiang, Kevin, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford C., Dickinson, Susan, Dominguez, Sophia, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie A., Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Heuer, Hilary W., Hsiung, Ging-Yuek, Huey, Edward D., Irwin, David J., Jones, David T., Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel I., Kerwin, Diana R., Knopman, David S., Kraft, Ruth, Kramer, Joel H., Kremers, Walter K., Kukull, Walter A., Litvan, Irene, Ljubenkov, Peter A., Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily, Mendez, Mario F., Miller, Bruce L., Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P., Rascovsky, Katya, Roberson, Erik D., Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M., Syrjanen, Jeremy, Tartaglia, M. Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., and Rosen, Howard J.

Published
2019
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63. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

Author

Staffaroni, Adam M., Bajorek, Lynn, Casaletto, Kaitlin B., Cobigo, Yann, Goh, Sheng-Yang M., Wolf, Amy, Heuer, Hilary W., Elahi, Fanny M., Ljubenkov, Peter A., Dever, Reilly, Kornak, John, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christina, Coppola, Giovanni, Dheel, Christina, Dickerson, Bradford C., Dickinson, Susan, Dominguez, Sophia, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie A., Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Ging-Yuek, Huey, Edward D., Irwin, David J., Jones, David T., Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel I., Kerwin, Diana R., Knopman, David S., Kraft, Ruth, Kremers, Walter K., Kukull, Walter A., Litvan, Irene, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily, Mendez, Mario F., Miller, Bruce L., Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P., Rascovsky, Katya, Roberson, Erik D., Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M., Syrjanen, Jeremy, Tartaglia, M. Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., Kramer, Joel H., and Rosen, Howard J.

Published
2019
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64. Frontotemporal dementia and its subtypes: a genome-wide association study

Author

Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John BJ, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian RA, Hsiung, Ging-Yuek R, Mann, David MA, Grafman, Jordan, Morris, Christopher M, Attems, Johannes, Griffiths, Timothy D, McKeith, Ian G, Thomas, Alan J, Pietrini, P, Huey, Edward D, Wassermann, Eric M, Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B, Schlachetzki, Johannes CM, Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M, Grossman, Murray, Trojanowski, John Q, van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, and Rossor, Martin N

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Brain Disorders, Alzheimer's Disease Related Dementias (ADRD), Genetics, Neurodegenerative, Dementia, Acquired Cognitive Impairment, Frontotemporal Dementia (FTD), Aging, Human Genome, Clinical Research, Rare Diseases, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aged, Aged, 80 and over, Female, Frontotemporal Dementia, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundFrontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.MethodsWe did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p

Published
2014

65. Baseline Depressive Symptoms as a Predictor of Incident Dementia in a Prospectively Followed Cohort of Elders with Essential Tremor.

Author

Berry, Diane S., Ghanem, Ali, McGurn, Margaret M., Huey, Edward D., Cosentino, Stephanie, and Louis, Elan D.

Subjects
GERIATRIC Depression Scale, COGNITION disorders, ESSENTIAL tremor, DISEASE risk factors, NEUROPSYCHOLOGICAL tests
Abstract

Introduction: Essential tremor (ET) patients may exhibit a variety of non-motor features, including cognitive decline and depressive symptoms. Studies of several neurodegenerative diseases link depression to cognitive decline, suggesting depression is an early marker of dementia. We examined whether baseline depressive symptoms predict incident dementia in elders with ET. Methods: Hundred and forty-one ET cases aged 70 years or older at baseline, enrolled in a prospective study of cognitive performance, took part in evaluations at baseline and at 18, 36, 54, and 72 months. Participants completed the Geriatric Depression Scale (GDS), a 30-item self-report measure of depressive symptoms, and a battery of neuropsychological tests and functional assessments, from which we derived cognitive diagnoses at each evaluation. Cox proportional hazards regression equations determined incident dementia risk based on participants' baseline depression scores. Results: Mean baseline age was 81.5 ± 6.7 years. Higher baseline GDS scores were associated with increased risk of dementia in an unadjusted model (hazards ratio [HR] = 1.11, 95% confidence interval [CI] = 1.02–1.20, p = 0.01) and after controlling for baseline age, education, number of medications, and tremor onset age (HR = 1.13, 95% CI = 1.02–1.25, p = 0.02). Conclusion: Baseline depression scores predicted incident dementia in elders with ET. With each one-point increase in baseline depression score, there was a 13% increase in incident dementia risk. Given the published data that reported depression may be twice as high in elders with ET compared to controls, this association is particularly worrisome in the ET population. [ABSTRACT FROM AUTHOR]

Published
2024
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69. C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Author

Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, Van Broeckhoven, Christine, van Rooij, Jeroen, Van Swieten, John C, Veronesi, Arianna, Vitale, Emilia, Waldö, Maria L, Woodward, Cathy, Yokoyama, Jennifer, Escott-Price, Valentina, Polke, James M, and Ferrari, Raffaele

Published
2020
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70. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Author

van Blitterswijk, Marka, Baker, Matthew C, DeJesus-Hernandez, Mariely, Ghidoni, Roberta, Benussi, Luisa, Finger, Elizabeth, Hsiung, Ging-Yuek R, Kelley, Brendan J, Murray, Melissa E, Rutherford, Nicola J, Brown, Patricia E, Ravenscroft, Thomas, Mullen, Bianca, Ash, Peter EA, Bieniek, Kevin F, Hatanpaa, Kimmo J, Karydas, Anna, Wood, Elisabeth McCarty, Coppola, Giovanni, Bigio, Eileen H, Lippa, Carol, Strong, Michael J, Beach, Thomas G, Knopman, David S, Huey, Edward D, Mesulam, Marsel, Bird, Thomas, White, Charles L, Kertesz, Andrew, Geschwind, Dan H, Van Deerlin, Vivianna M, Petersen, Ronald C, Binetti, Giuliano, Miller, Bruce L, Petrucelli, Leonard, Wszolek, Zbigniew K, Boylan, Kevin B, Graff-Radford, Neill R, Mackenzie, Ian R, Boeve, Bradley F, Dickson, Dennis W, and Rademakers, Rosa

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Frontotemporal Dementia (FTD), Dementia, Brain Disorders, Clinical Research, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, Aged, 80 and over, Autopsy, C9orf72 Protein, Cohort Studies, DNA Repeat Expansion, Female, Follow-Up Studies, Genetic Predisposition to Disease, Genetic Testing, Humans, Intercellular Signaling Peptides and Proteins, Male, Microtubule-Associated Proteins, Middle Aged, Neurodegenerative Diseases, Phenotype, Progranulins, Proteins, tau Proteins, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of neurodegenerative diseases.MethodsA 2-step protocol, with a fluorescent PCR and a repeat-primed PCR, was used to determine the presence of hexanucleotide expansions in C9ORF72. For one double mutant, we performed Southern blots to assess expansion sizes, and immunohistochemistry to characterize neuropathology.ResultsWe detected C9ORF72 repeat expansions in 4 of 334 subjects (1.2% [or 1.8% of 217 families]). All these subjects had behavioral phenotypes and also harbored well-known pathogenic mutations in either progranulin (GRN: p.C466LfsX46, p.R493X, p.C31LfsX35) or microtubule-associated protein tau (MAPT: p.P301L). Southern blotting of one double mutant with a p.C466LfsX46 GRN mutation demonstrated a long repeat expansion in brain (>3,000 repeats), and immunohistochemistry showed mixed neuropathology with characteristics of both C9ORF72 expansions and GRN mutations.ConclusionsOur findings indicate that co-occurrence of 2 evidently pathogenic mutations could contribute to the pleiotropy that is detected in patients with C9ORF72 repeat expansions. These findings suggest that patients with known mutations should not be excluded from further studies, and that genetic counselors should be aware of this phenomenon when advising patients and their family members.

Published
2013

73. Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Author

Ge, Yi-Jun, primary, Ou, Ya-Nan, additional, Deng, Yue-Ting, additional, Wu, Bang-Sheng, additional, Yang, Liu, additional, Zhang, Ya-Ru, additional, Chen, Shi-Dong, additional, Huang, Yu-Yuan, additional, Dong, Qiang, additional, Tan, Lan, additional, Yu, Jin-Tai, additional, Ferrari, Raffaele, additional, Hernandez, Dena G., additional, Nalls, Michael A., additional, Rohrer, Jonathan D., additional, Ramasamy, Adaikalavan, additional, Kwok, John B.J., additional, Dobson-Stone, Carol, additional, Brooks, William S., additional, Schofield, Peter R., additional, Halliday, Glenda M., additional, Hodges, John R., additional, Piguet, Olivier, additional, Bartley, Lauren, additional, Thompson, Elizabeth, additional, Haan, Eric, additional, Hernández, Isabel, additional, Ruiz, Agustín, additional, Boada, Mercè, additional, Borroni, Barbara, additional, Padovani, Alessandro, additional, Cruchaga, Carlos, additional, Cairns, Nigel J., additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Forloni, Gianluigi, additional, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Serpente, Maria, additional, Scarpini, Elio, additional, Clarimón, Jordi, additional, Lleó, Alberto, additional, Blesa, Rafael, additional, Waldö, Maria Landqvist, additional, Nilsson, Karin, additional, Nilsson, Christer, additional, Mackenzie, Ian R.A., additional, Hsiung, Ging-Yuek R., additional, Mann, David M.A., additional, Grafman, Jordan, additional, Morris, Christopher M., additional, Attems, Johannes, additional, Griffiths, Timothy D., additional, McKeith, Ian G., additional, Thomas, Alan J., additional, Pietrini, P., additional, Huey, Edward D., additional, Wassermann, Eric M., additional, Baborie, Atik, additional, Jaros, Evelyn, additional, Tierney, Michael C., additional, Pastor, Pau, additional, Razquin, Cristina, additional, Ortega-Cubero, Sara, additional, Alonso, Elena, additional, Perneczky, Robert, additional, Diehl-Schmid, Janine, additional, Alexopoulos, Panagiotis, additional, Kurz, Alexander, additional, Rainero, Innocenzo, additional, Rubino, Elisa, additional, Pinessi, Lorenzo, additional, Rogaeva, Ekaterina, additional, St. George-Hyslop, Peter, additional, Rossi, Giacomina, additional, Tagliavini, Fabrizio, additional, Giaccone, Giorgio, additional, Rowe, James B., additional, Schlachetzki, Johannes C.M., additional, Uphill, James, additional, Collinge, John, additional, Mead, Simon, additional, Danek, Adrian, additional, Van Deerlin, Vivianna M., additional, Grossman, Murray, additional, Trojanowski, John Q., additional, van der Zee, Julie, additional, Deschamps, William, additional, Van Langenhove, Tim, additional, Cruts, Marc, additional, Van Broeckhoven, Christine, additional, Cappa, Stefano F., additional, Le Ber, Isabelle, additional, Hannequin, Didier, additional, Golfier, Véronique, additional, Vercelletto, Martine, additional, Brice, Alexis, additional, Nacmias, Benedetta, additional, Sorbi, Sandro, additional, Bagnoli, Silvia, additional, Piaceri, Irene, additional, Nielsen, Jørgen E., additional, Hjermind, Lena E., additional, Riemenschneider, Matthias, additional, Mayhaus, Manuel, additional, Ibach, Bernd, additional, Gasparoni, Gilles, additional, Pichler, Sabrina, additional, Gu, Wei, additional, Rossor, Martin N., additional, Fox, Nick C., additional, Warren, Jason D., additional, Spillantini, Maria Grazia, additional, Morris, Huw R., additional, Rizzu, Patrizia, additional, Heutink, Peter, additional, Snowden, Julie S., additional, Rollinson, Sara, additional, Richardson, Anna, additional, Gerhard, Alexander, additional, Bruni, Amalia C., additional, Maletta, Raffaele, additional, Frangipane, Francesca, additional, Cupidi, Chiara, additional, Bernardi, Livia, additional, Anfossi, Maria, additional, Gallo, Maura, additional, Conidi, Maria Elena, additional, Smirne, Nicoletta, additional, Rademakers, Rosa, additional, Baker, Matt, additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Knopman, David, additional, Josephs, Keith A., additional, Boeve, Bradley F., additional, Parisi, Joseph E., additional, Seeley, William W., additional, Miller, Bruce L., additional, Karydas, Anna M., additional, Rosen, Howard, additional, van Swieten, John C., additional, Dopper, Elise G.P., additional, Seelaar, Harro, additional, Pijnenburg, Yolande A.L., additional, Scheltens, Philip, additional, Logroscino, Giancarlo, additional, Capozzo, Rosa, additional, Novelli, Valeria, additional, Puca, Annibale A., additional, Franceschi, Massimo, additional, Postiglione, Alfredo, additional, Milan, Graziella, additional, Sorrentino, Paolo, additional, Kristiansen, Mark, additional, Chiang, Huei-Hsin, additional, Graff, Caroline, additional, Pasquier, Florence, additional, Rollin, Adeline, additional, Deramecourt, Vincent, additional, Lebert, Florence, additional, Kapogiannis, Dimitrios, additional, Ferrucci, Luigi, additional, Pickering-Brown, Stuart, additional, Singleton, Andrew B., additional, Hardy, John, additional, and Momeni, Parastoo, additional

Published
2023
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76. Changes in Digital Speech Measures in Asymptomatic Carriers of Pathogenic Variants Associated With Frontotemporal Degeneration.

Author

Nevler, Naomi, Sunghye Cho, Cousins, Katheryn A. Q., Ash, Sharon, Olm, Christopher A., Shellikeri, Sanjana, Agmon, Galit, Gonzalez-Recober, Carmen, Xie, Sharon X., Barker, Megan S., Manoochehri, Masood, Mcmillan, Corey T., Irwin, David J., Massimo, Lauren, Dratch, Laynie, Cheran, Gayathri, Huey, Edward D., Cosentino, Stephanie A., Van Deerlin, Vivianna M., and Liberman, Mark Y.

Published
2024
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83. Can the Montreal Cognitive Assessment and Mini-Mental State Examination detect cognitive decline in elderly patients with essential tremor?

Author

McGurn, Margaret, Dworkin, Jordan D., Chapman, Silvia, Huey, Edward D., Cosentino, Stephanie, and Louis, Elan D.

Subjects
MONTREAL Cognitive Assessment, MINI-Mental State Examination, ESSENTIAL tremor, COGNITION disorders, OLDER patients
Abstract

Objective Given the association between essential tremor (ET) and higher rates of cognitive decline, assessing this decline is an important element of research and clinical care. The Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) are two broad, brief measures that are widely used to monitor cognitive impairment in various neurological disorders. We sought to determine the relative ability of the MoCA and the MMSE to detect cognitive decline in elderly patients with ET. Methods We administered a neuropsychological battery to an ET cohort every 18 months over 4.5 years. We defined the gold standard for change in cognition as the change in neuropsychological test scores over consecutive evaluations and applied the Reliable Change Method to detect meaningful increases/decreases in test scores. We performed receiver operating characteristics (ROC) analysis to quantify the area under the curve (AUC) and compare the ability of the MoCA and the MMSE to detect cognitive decline. Results The AUCs for the MoCA and the MMSE did not differ significantly at any interval or when all intervals were pooled for analysis. Across all intervals, the ability of the MoCA and the MMSE to detect cognitive decline was consistently fair or poor. Conclusions We found that the ability of the MoCA and the MMSE to detect cognitive decline in ET patients over 18-month intervals is inadequate. Unchanged scores on the MoCA and the MMSE in ET over time should be approached with caution. We propose that these screening tools should be supplemented with additional neuropsychological tests. [ABSTRACT FROM AUTHOR]

Published
2023
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86. Characterization of CDR® plus NACC FTLD at Phenoconversion from Asymptomatic to Mild Behavioral and/or Cognitive Impairment in Familial Frontotemporal Lobar Degeneration: Data from the ALLFTD Consortium

Author

Miyagawa, Toji, primary, Brushaber, Danielle, additional, Syrjanen, Jeremy A., additional, Kremers, Walter K., additional, Fields, Julie A., additional, Forsberg, Leah K., additional, Heuer, Hilary W., additional, Huey, Edward D., additional, Knopman, David S., additional, Kornak, John, additional, Boxer, Adam L., additional, Rosen, Howard J., additional, Boeve, Bradley F., additional, and Consortium, ALLFTD, additional

Published
2022
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91. Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Author

Frontotemporal Dementia Prevention Initiative (FPI) Investigators, ALLFTD Investigators, GENFI investigators, Staffaroni, Adam M., Quintana, Melanie, Wendelberger, Barbara, Heuer, Hilary W., Russell, Lucy L., Cobigo, Yann, Wolf, Amy, Goh, Sheng Yang Matt, Petrucelli, Leonard, Gendron, Tania F., Heller, Carolin, Clark, Annie L., Taylor, Jack Carson, Wise, Amy, Ong, Elise, Forsberg, Leah, Brushaber, Danielle, Rojas, Julio C., VandeVrede, Lawren, Ljubenkov, Peter, Kramer, Joel, Casaletto, Kaitlin B., Appleby, Brian, Bordelon, Yvette, Botha, Hugo, Dickerson, Bradford C., Domoto-Reilly, Kimiko, Fields, Julie A., Foroud, Tatiana, Gavrilova, Ralitza, Geschwind, Daniel, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathon, Graff-Radford, Neill, Grossman, Murray, Hall, Matthew G.H., Hsiung, Ging Yuek, Huey, Edward D., Irwin, David, Jones, David T., Kantarci, Kejal, Kaufer, Daniel, Knopman, David, Kremers, Walter, Lago, Argentina Lario, Lapid, Maria I., Maruta, Carolina, Simões do Couto, Frederico, Almeida, Maria Rosario, and Veritati - Repositório Institucional da Universidade Católica Portuguesa

Abstract

Unlike familial Alzheimer’s disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing disease prevention trials. We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers. Models included longitudinal clinical and neuropsychological scores, regional brain volumes and plasma neurofilament light chain (NfL) in 796 carriers and 412 noncarrier controls. We found that the temporal ordering of clinical and biomarker progression differed by genotype. In prevention-trial simulations using model-based patient selection, atrophy and NfL were the best endpoints, whereas clinical measures were potential endpoints in early symptomatic trials. f-FTD prevention trials are feasible but will likely require global recruitment efforts. These disease progression models will facilitate the planning of f-FTD clinical trials, including the selection of optimal endpoints and enrollment criteria to maximize power to detect treatment effects.

Published
2022

92. WITHDRAWN: Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

Author

Olney, Nicholas T., Ong, Elise, Goh, Sheng-Yang M., Bajorek, Lynn, Dever, Reilly, Staffaroni, Adam M., Cobigo, Yann, Bock, Meredith, Chiang, Kevin, Ljubenkov, Peter, Kornak, John, Heuer, Hilary W., Wang, Ping, Rascovsky, Katya, Wolf, Amelia, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christine, Coppola, Giovanni, Dickerson, Bradford C., Dickinson, Susan, Domoto-Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gearhart, Debra J., Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill R., Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Gingyuek, Huey, Edward D., Irwin, David J., Jones, David T., Kantarci, Kejal, Karydas, Anna M., Kaufer, Daniel, Kerwin, Diana, Knopman, David S., Kramer, Joel H., Kraft, Ruth, Kremers, Walter, Kukull, Walter, Lapid, Maria I., Litvan, Irene, Mackenzie, Ian R., Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M., McKinley, Emily C., Mendez, Mario F., Miller, Bruce L., Onyike, Chiadi, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeleine, Rademakers, Rosa, Ramos, Eliana M., Rankin, Katherine P., Roberson, Erik D., Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M., Syrjanen, Jeremy, Tartaglia, M. Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L., Boeve, Brad F., and Rosen, Howard J.

Published
2023
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94. Demographic and Symptom Correlates of Initial Idiopathic Psychiatric Diagnosis in Frontotemporal Dementia.

Author

Sejourne, Corinne, Dworkin, Jordan D, Barker, Megan S, Manoochehri, Masood, Gottesman, Reena T, Wassermann, Eric M, Tierney, Michael C, Huey, Edward D, and Grafman, Jordan

Subjects
FRONTOTEMPORAL dementia, PSYCHIATRIC diagnosis, FAMILY history (Medicine), SYMPTOMS, BEHAVIORAL assessment
Abstract

Introduction: This study aims to measure frequency and correlates of initial idiopathic psychiatric diagnosis in a cohort of 147 patients with Frontotemporal Dementia (FTD)-spectrum disorders. Methods: Participants were evaluated at the National Institutes of Health in Bethesda, Maryland. Initial participant diagnoses were determined by chart review and patient and informant interviews. Logistic regression was used to assess the relationships between diagnosis and age of symptom onset, gender, education, family history of psychiatric illness, and family history of dementia. Additional exploratory analyses investigated patients' first symptom type. Results: 25% (n=43) of all the patients reviewed were initially misdiagnosed with an idiopathic psychiatric illness, which is less than half the commonly cited 50% rate.3 Depression was the most common misdiagnosis (46.5%). Family history of dementia, family history of mental illness and an exploratory analysis of behavioral first symptoms suggested significant association with a greater likelihood of initial idiopathic psychiatric diagnosis in FTD patients. Discussion: This data confirms patterns of initial idiopathic psychiatric diagnosis in FTD and elucidates potential factors underlying misdiagnosis. Potential implications for patient outcomes, caregiver burden and healthcare costs are discussed. [ABSTRACT FROM AUTHOR]

Published
2023
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