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Start Over Author "Kukull, Walter A." Journal alzheimer's & dementia
146 results on '"Kukull, Walter A."'

1. Genetic associations with dementia‐related proteinopathy: Application of item response theory

Author

Katsumata, Yuriko, Fardo, David W, Shade, Lincoln MP, Wu, Xian, Karanth, Shama D, Hohman, Timothy J, Schneider, Julie A, Bennett, David A, Farfel, Jose M, Gauthreaux, Kathryn, Mock, Charles, Kukull, Walter A, Abner, Erin L, Nelson, Peter T, Carrillo, Maria, Reiman, Eric M, Chen, Kewei, Masterman, Donna, Green, Robert C, Ho, Carole, Fleisher, Adam, Saykin, Andrew J, Nho, Kwangsik, Apostolova, Liana G, Risacher, Shannon L, Jackson, Jonathan, Forghanian-Arani, Arvin, Borowski, Bret, Ward, Chad, Schwarz, Christopher, Jack, Clifford R, Jones, David, Gunter, Jeff, Kantarci, Kejal, Senjem, Matthew, Vemuri, Prashanthi, Reid, Robert, Petersen, Ronald, Hsiao, John K, Potter, William, Masliah, Eliezer, Ryan, Laurie, Bernard, Marie, Silverberg, Nina, Kormos, Adrienne, Conti, Cat, Veitch, Dallas, Flenniken, Derek, Sacrey, Diana Truran, Choe, Mark, Ashford, Miriam, Chen, Stephanie Rossi, Faber, Kelley, Nudelman, Kelly, Wilme, Kristi, Foroud, Tatiana M, Trojanowki, John Q, Shaw, Leslie M, Korecka, Magdalena, Figurski, Michal, Khachaturian, Zaven, Barnes, Lisa, Malone, Ian, Fox, Nick C, Beckett, Laurel, Weiner, Michael W, Jagust, William, Landau, Susan, Knaack, Alexander, DeCarli, Charles, Harvey, Danielle, Fletcher, Evan, González, Hector, Jin, Chengshi, Tosun‐Turgut, Duygu, Neuhaus, John, Fockler, Juliet, Nosheny, Rachel, Koeppe, Robert A, Yushkevich, Paul A, Das, Sandhitsu, Mathis, Chet, Toga, Arthur W, Zimmerman, Caileigh, Gessert, Devon, Shcrer, Elizabeth, Miller, Garrett, Coker, Godfrey, Jimenez, Gustavo, Salazar, Jennifer, Pizzola, Jeremy, Crawford, Karen, Hergesheimer, Lindsey, Donohue, Michael, and Rafii, Michael

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Acquired Cognitive Impairment, Neurodegenerative, Brain Disorders, Dementia, Genetics, Prevention, Aging, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, alpha-Synuclein, TDP-43 Proteinopathies, Proteostasis Deficiencies, DNA-Binding Proteins, Biological Products, Alzheimer Disease, Membrane Proteins, Nerve Tissue Proteins, Alzheimer's Disease Neuroimaging Initiative, National Alzheimer's Coordinating Center, ARHGEF28, Alzheimer's Coordinating Center, Alzheimer's Disease Sequencing Project, Alzheimer's disease neuropathologic changes, Item response theory, Lewy, RGNEF, Religious Orders Study, Rush Memory and Aging Project, SDHAF1, TMEM68, neuropathology, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionAlthough dementia-related proteinopathy has a strong negative impact on public health, and is highly heritable, understanding of the related genetic architecture is incomplete.MethodsWe applied multidimensional generalized partial credit modeling (GPCM) to test genetic associations with dementia-related proteinopathies. Data were analyzed to identify candidate single nucleotide variants for the following proteinopathies: Aβ, tau, α-synuclein, and TDP-43.ResultsFinal included data comprised 966 participants with neuropathologic and WGS data. Three continuous latent outcomes were constructed, corresponding to TDP-43-, Aβ/Tau-, and α-synuclein-related neuropathology endophenotype scores. This approach helped validate known genotype/phenotype associations: for example, TMEM106B and GRN were risk alleles for TDP-43 pathology; and GBA for α-synuclein/Lewy bodies. Novel suggestive proteinopathy-linked alleles were also discovered, including several (SDHAF1, TMEM68, and ARHGEF28) with colocalization analyses and/or high degrees of biologic credibility.DiscussionA novel methodology using GPCM enabled insights into gene candidates for driving misfolded proteinopathies.HighlightsLatent factor scores for proteinopathies were estimated using a generalized partial credit model. The three latent continuous scores corresponded well with proteinopathy severity. Novel genes associated with proteinopathies were identified. Several genes had high degrees of biologic credibility for dementia risk factors.

Published
2024

2. Asian Cohort for Alzheimer's Disease (ACAD) pilot study on genetic and non‐genetic risk factors for Alzheimer's disease among Asian Americans and Canadians

Author

Ho, Pei‐Chuan, Yu, Wai Haung, Tee, Boon Lead, Lee, Wan‐Ping, Li, Clara, Gu, Yian, Yokoyama, Jennifer S, Reyes‐Dumeyer, Dolly, Choi, Yun‐Beom, Yang, Hyun‐Sik, Vardarajan, Badri N, Tzuang, Marian, Lieu, Kevin, Lu, Anna, Faber, Kelley M, Potter, Zoë D, Revta, Carolyn, Kirsch, Maureen, McCallum, Jake, Mei, Diana, Booth, Briana, Cantwell, Laura B, Chen, Fangcong, Chou, Sephera, Clark, Dewi, Deng, Michelle, Hong, Ting Hei, Hwang, Ling‐Jen, Jiang, Lilly, Joo, Yoonmee, Kang, Younhee, Kim, Ellen S, Kim, Hoowon, Kim, Kyungmin, Kuzma, Amanda B, Lam, Eleanor, Lanata, Serggio C, Lee, Kunho, Li, Donghe, Li, Mingyao, Li, Xiang, Liu, Chia‐Lun, Liu, Collin, Liu, Linghsi, Lupo, Jody‐Lynn, Nguyen, Khai, Pfleuger, Shannon E, Qian, James, Qian, Winnie, Ramirez, Veronica, Russ, Kristen A, Seo, Eun Hyun, Song, Yeunjoo E, Tartaglia, Maria Carmela, Tian, Lu, Torres, Mina, Vo, Namkhue, Wong, Ellen C, Xie, Yuan, Yau, Eugene B, Yi, Isabelle, Yu, Victoria, Zeng, Xiaoyi, St George‐Hyslop, Peter, Au, Rhoda, Schellenberg, Gerard D, Dage, Jeffrey L, Varma, Rohit, Hsiung, Ging‐Yuek R, Rosen, Howard, Henderson, Victor W, Foroud, Tatiana, Kukull, Walter A, Peavy, Guerry M, Lee, Haeok, Feldman, Howard H, Mayeux, Richard, Chui, Helena, Jun, Gyungah R, Park, Van M Ta, Chow, Tiffany W, and Wang, Li‐San

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Clinical Trials and Supportive Activities, Clinical Research, Acquired Cognitive Impairment, Minority Health, Brain Disorders, Dementia, Alzheimer's Disease, Aging, Neurodegenerative, Prevention, Genetics, Health Disparities, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.4 Surveillance and distribution, Neurological, Humans, Alzheimer Disease, Pilot Projects, Asian, Canada, Risk Factors, North American People, Alzheimer's disease, biosamples, community-based participatory research, dementia, environmental, genetics, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionClinical research in Alzheimer's disease (AD) lacks cohort diversity despite being a global health crisis. The Asian Cohort for Alzheimer's Disease (ACAD) was formed to address underrepresentation of Asians in research, and limited understanding of how genetics and non-genetic/lifestyle factors impact this multi-ethnic population.MethodsThe ACAD started fully recruiting in October 2021 with one central coordination site, eight recruitment sites, and two analysis sites. We developed a comprehensive study protocol for outreach and recruitment, an extensive data collection packet, and a centralized data management system, in English, Chinese, Korean, and Vietnamese.ResultsACAD has recruited 606 participants with an additional 900 expressing interest in enrollment since program inception.DiscussionACAD's traction indicates the feasibility of recruiting Asians for clinical research to enhance understanding of AD risk factors. ACAD will recruit > 5000 participants to identify genetic and non-genetic/lifestyle AD risk factors, establish blood biomarker levels for AD diagnosis, and facilitate clinical trial readiness.HighlightsThe Asian Cohort for Alzheimer's Disease (ACAD) promotes awareness of under-investment in clinical research for Asians. We are recruiting Asian Americans and Canadians for novel insights into Alzheimer's disease. We describe culturally appropriate recruitment strategies and data collection protocol. ACAD addresses challenges of recruitment from heterogeneous Asian subcommunities. We aim to implement a successful recruitment program that enrolls across three Asian subcommunities.

Published
2024

3. The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS): Framework and methodology

Author

Apostolova, Liana G, Aisen, Paul, Eloyan, Ani, Fagan, Anne, Fargo, Keith N, Foroud, Tatiana, Gatsonis, Constantine, Grinberg, Lea T, Jack, Clifford R, Kramer, Joel, Koeppe, Robert, Kukull, Walter A, Murray, Melissa E, Nudelman, Kelly, Rumbaugh, Malia, Toga, Arthur, Vemuri, Prashanthi, Trullinger, Amy, Iaccarino, Leonardo, Day, Gregory S, Graff‐Radford, Neill R, Honig, Lawrence S, Jones, David T, Masdeu, Joseph, Mendez, Mario, Musiek, Erik, Onyike, Chiadi U, Rogalski, Emily, Salloway, Steve, Wolk, David A, Wingo, Thomas S, Carrillo, Maria C, Dickerson, Bradford C, Rabinovici, Gil D, and Consortium, the LEADS

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Alzheimer's Disease, Clinical Research, Neurosciences, Dementia, Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Biomedical Imaging, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Aetiology, Neurological, Alzheimer Disease, Aniline Compounds, Autopsy, Biomarkers, Brain, Cognitive Dysfunction, Early Diagnosis, Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, National Institute on Aging (U.S.), Positron-Emission Tomography, Stilbenes, United States, Alzheimer&apos, s disease, early&#8208, onset, EOAD, LEADS, YOAD, young onset, LEADS Consortium, Alzheimer's disease, early-onset, Geriatrics, Clinical sciences, Biological psychology
Abstract

Patients with early-onset Alzheimer's disease (EOAD) are commonly excluded from large-scale observational and therapeutic studies due to their young age, atypical presentation, or absence of pathogenic mutations. The goals of the Longitudinal EOAD Study (LEADS) are to (1) define the clinical, imaging, and fluid biomarker characteristics of EOAD; (2) develop sensitive cognitive and biomarker measures for future clinical and research use; and (3) establish a trial-ready network. LEADS will follow 400 amyloid beta (Aβ)-positive EOAD, 200 Aβ-negative EOnonAD that meet National Institute on Aging-Alzheimer's Association (NIA-AA) criteria for mild cognitive impairment (MCI) or AD dementia, and 100 age-matched controls. Participants will undergo clinical and cognitive assessments, magnetic resonance imaging (MRI), [18 F]Florbetaben and [18 F]Flortaucipir positron emission tomography (PET), lumbar puncture, and blood draw for DNA, RNA, plasma, serum and peripheral blood mononuclear cells, and post-mortem assessment. To develop more effective AD treatments, scientists need to understand the genetic, biological, and clinical processes involved in EOAD. LEADS will develop a public resource that will enable future planning and implementation of EOAD clinical trials.

Published
2021

4. Gearing up for the future: Exploring facilitators and barriers to inform clinical trial design in frontotemporal lobar degeneration

Author

Banga, Yasmin B, Lai, Yujung, Kim, Priscilla, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Forsberg, Leah K, Heuer, Hilary W, Brushaber, Danielle, Appleby, Brian, Biernacka, Joanna M, Bordelon, Yvette M, Botha, Hugo, Bozoki, Andrea C, Brannelly, Patrick, Dickerson, Brad C, Dickinson, Susan, Dickson, Dennis W, Domoto‐Reilly, Kimiko, Faber, Kelley, Fagan, Anne M, Fields, Julie A, Fishman, Ann, Foroud, Tatiana M, Galasko, Doug R, Gavrilova, Ralitza H, Gendron, Tania F, Geschwind, Daniel H, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill R, Grant, Ian, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huang, Eric J, Huey, Edward D, Irwin, David J, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Knopman, David S, Kramer, Joel H, Kremers, Walter K, Kornak, John, Kukull, Walter A, Lagone, Emma, Leger, Gabriel C, Litvan, Irene, Ljubenkov, Peter A, Lucente, Diane E, Mackenzie, Ian R, Manoochehri, Masood, Masdeu, Joseph C, McGinnis, Scott, Mendez, Mario F, Miller, Bruce L, Miyagawa, Toji, Nelson, Kevin M, Onyike, Chiadi U, Pantelyat, Alex, Pascual, Belen, Pearlman, Rodney, Petrucelli, Leonard, Pottier, Cyril P, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P, Rascovsky, Katya, Rexach, Jessica E, Ritter, Aaron, Roberson, Erik D, Rojas, Julio C, Sabbagh, Marwan N, Salmon, David P, Savica, Rodolfo, Seeley, William W, Staffaroni, Adam M, Syrjanen, Jeremy A, Tartaglia, Maria Carmela, Tatton, Nadine, Taylor, Jack C, Toga, Arthur W, Weintraub, Sandra, Wheaton, Diana, Wong, Benjamin, Wszolek, Zbigniew, and Consortium, ALLFTD

Subjects
Frontotemporal Dementia (FTD), Rare Diseases, Behavioral and Social Science, Neurodegenerative, Acquired Cognitive Impairment, Basic Behavioral and Social Science, Brain Disorders, Clinical Research, Dementia, Aging, Biomedical Imaging, Clinical Trials and Supportive Activities, Neurological, Clinical Sciences, Neurosciences, Geriatrics
Abstract

BACKGROUND: Frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative conditions, affecting the frontal and/or temporal lobes. Ongoing research has provided insight into developing clinical trials for FTLD and key clinical measures such as structural MRI. To inform clinical trial design and optimize participation, it is imperative to explore facilitators and barriers for potential candidates. OBJECTIVE: The objective of this study is to explore facilitators and barriers to participating in future clinical trials for FTLD. METHODS: Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) are observational studies focused on characterizing FTLD syndromes in preparation for clinical trials. The 584 participants enrolled across 18 research sites in the United States and Canada completed a survey assessing interest in clinical trial participation. RESULTS: 29% of respondents self-reported as patients (63±10 years), 26% self-reported as caregivers answering on behalf of patients (65±10 years), and 45% self-reported as healthy but at risk for FTLD (48±14 years). Travel reimbursement was the most common factor reported to positively influence participation (≧66%), with the healthy but at risk group showing the strongest endorsement (83%). Cost and time involved in travel were possible barriers for about half of the patients (48%) and healthy but at risk respondents (53%). The respondents value receiving feedback on the study findings (≧80%) and being informed of their individual disease progression (≧75%). Particularly, keeping participation confidential was very important for the healthy but at risk group (62%). In regard to research assessments, most participants demonstrated a high interest in physical and neurological exams at a research center (≧87%) whereas only half were interested in doing more invasive procedures such as the lumbar puncture (≧52%). Overall, respondents showed a positive attitude and support for research participation (≧77%) and trusted that their health information would remain confidential in a clinical trial (≧53%). CONCLUSIONS: Favorable attitudes and interest towards medical research exist among participants. To optimize participation, clinical trials should allocate funding for travel and involve participants in feedback about study results and their disease progression. Alternatives to invasive assessments may increase participation.

Published
2021

5. Studying the natural history of frontotemporal lobar degeneration (FTLD): The ARTFL LEFFTDS longitudinal FTLD (ALLFTD) protocol

Author

Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Forsberg, Leah K, Heuer, Hilary W, Brushaber, Danielle, Appleby, Brian, Biernacka, Joanna M, Bordelon, Yvette M, Botha, Hugo, Brannelly, Patrick, Dickerson, Brad C, Dickson, Dennis W, Kimiko, Domoto‐Reilly, Faber, Kelley, Fagan, Anne, Fields, Julie A, Fishman, Ann, Foroud, Tatiana M, Galasko, Doug R, Gavrilova, Ralitza H, Gendron, Tania F, Geschwind, Daniel H, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill R, Grant, Ian, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huang, Eric J, Huey, Edward, Irwin, David J, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Knopman, David S, Kramer, Joel H, Kremers, Walter K, Kornak, John, Kukull, Walter A, Lagone, Emma, Leger, Gabriel C, Litvan, Irene, Ljubenkov, Peter A, Lucente, Diane E, Mackenzie, Ian R, Manoochehri, Masood, Masdeu, Joseph C, McGinnis, Scott, Mendez, Mario F, Miller, Bruce L, Miyagawa, Toji, Nelson, Kevin M, Onyike, Chiadi U, Pantelyat, Alex, Pascual, Belen, Pearlman, Rodney, Petrucelli, Leonard, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Rexach, Jessica E, Ritter, Aaron, Roberson, Erik D, Rojas, Julio C, Sabbagh, Marwan N, Salmon, David P, Savica, Rodolfo, Seeley, William W, Staffaroni, Adam M, Syrjanen, Jeremy, Tartaglia, Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W, Weintraub, Sandra, Wheaton, Diana, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Brain Disorders, Rare Diseases, Acquired Cognitive Impairment, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Trials and Supportive Activities, Clinical Research, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), Genetics, Neurosciences, Dementia, 2.1 Biological and endogenous factors, Geriatrics, Clinical Sciences
Published
2020

6. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

Author

Gentry, Melanie T, Lapid, Maria I, Syrjanen, Jeremy, Calvert, Kendrick, Hughes, Samantha, Brushaber, Danielle, Kremers, Walter, Bove, Jessica, Brannelly, Patrick, Coppola, Giovanni, Dheel, Christina, Dickerson, Bradley, Dickinson, Susan, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Deb, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grossman, Murray, Haley, Dana, Heuer, Hilary, Hsiung, Ging‐Yuek, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Knopman, David, Kornak, John, Kramer, Joel, Kukull, Walter, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian, Manoochehri, Masood, McGinnis, Scott, Miller, Bruce, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Sengdy, Pheth, Shaw, Leslie, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boeve, Bradley F, Boxer, Adam, Rosen, Howard, and Consortium, the LEFFTDS

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Aging, Acquired Cognitive Impairment, Frontotemporal Dementia (FTD), Behavioral and Social Science, Brain Disorders, Clinical Research, Neurodegenerative, Alzheimer's Disease, Adolescent, Adult, Aged, Aged, 80 and over, Caregivers, Cohort Studies, Cost of Illness, Female, Frontotemporal Lobar Degeneration, Humans, Longitudinal Studies, Male, Middle Aged, Quality of Life, Young Adult, C9orf72, frontotemporal dementia, GRN, MAPT, quality of life, tau, TDP-43, LEFFTDS Consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

ObjectiveThe Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects evaluates familial frontotemporal lobar degeneration (FTLD) kindreds with MAPT, GRN, or C9orf72 mutations. Objectives were to examine whether health-related quality of life (HRQoL) correlates with clinical symptoms and caregiver burden, and whether self-rated and informant-rated HRQoL would correlate with each other.MethodsIndividuals were classified using the Clinical Dementia Rating (CDR® ) Scale plus National Alzheimer's Coordinating Center (NACC) FTLD. HRQoL was measured with DEMQOL and DEMQOL-proxy; caregiver burden with the Zarit Burden Interview (ZBI). For analysis, Pearson correlations and weighted kappa statistics were calculated.ResultsThe cohort of 312 individuals included symptomatic and asymptomatic individuals. CDR® plus NACC FTLD was negatively correlated with DEMQOL (r = -0.20, P = .001), as were ZBI and DEMQOL (r = -0.22, P = .0009). There was fair agreement between subject and informant DEMQOL (κ = 0.36, P

Published
2020

7. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

Author

Boeve, Bradley, Bove, Jessica, Brannelly, Patrick, Brushaber, Danielle, Coppola, Giovanni, Dever, Rielly, Dheel, Christina, Dickerson, Bradford, Dickinson, Susan, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Ghoshal, Nupur, Goldman, Jennifer, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grossman, Murray, Haley, Dana, Heuer, Hilary, Hsiung, Ging‐Yuek Robin, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Knopman, David, Kornak, John, Kraft, Ruth, Kramer, Joel, Kremers, Walter, Kukull, Walter, Lapid, Maria, Lucente, Diane, Mackenzie, Ian, Manoochehri, Masood, McGinnis, Scott, Miller, Bruce, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Kate, Rascovsky, Katya, Sengdy, Pheth, Shaw, Les, Syrjanen, Jeremy, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam, Rosen, Howard, and Consortium, on Behalf of the LEFFTDS

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease Related Dementias (ADRD), Neurosciences, Dementia, Brain Disorders, Rare Diseases, Alzheimer's Disease, Acquired Cognitive Impairment, Genetics, Aging, Neurodegenerative, Clinical Trials and Supportive Activities, Frontotemporal Dementia (FTD), Neurological, Adult, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neuropsychological Tests, tau Proteins, C9orf72, Frontotemporal dementia, GRN, MAPT, Tau, TDP-43, LEFFTDS Consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionIt is important to establish the natural history of familial frontotemporal lobar degeneration (f-FTLD) and provide clinical and biomarker data for planning these studies, particularly in the asymptomatic phase.MethodsThe Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects protocol was designed to enroll and follow at least 300 subjects for more than at least three annual visits who are members of kindreds with a mutation in one of the three most common f-FTLD genes-microtubule-associated protein tau, progranulin, or chromosome 9 open reading frame 72.ResultsWe present the theoretical considerations of f-FTLD and the aims/objectives of this protocol. We also describe the design and methodology for evaluating and rating subjects, in which detailed clinical and neuropsychological assessments are performed, biofluid samples are collected, and magnetic resonance imaging scans are performed using a standard protocol.DiscussionThese data and samples, which are available to interested investigators worldwide, will facilitate planning for upcoming disease-modifying therapeutic trials in f-FTLD.

Published
2020

8. 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, Rosen, Howard J, and consortium, on behalf of the ARTFL LEFFTDS

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Frontotemporal Dementia (FTD), Brain Disorders, Dementia, Aging, Neurodegenerative, Genetics, Acquired Cognitive Impairment, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Prevention, Rare Diseases, Neurological, Atrophy, Brain, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neuropsychological Tests, Progranulins, tau Proteins, Frontotemporal dementia, Magnetic resonance imaging, Tau, TDP-43, ARTFL/LEFFTDS consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionSome models of therapy for neurodegenerative diseases envision starting treatment before symptoms develop. Demonstrating that such treatments are effective requires accurate knowledge of when symptoms would have started without treatment. Familial frontotemporal lobar degeneration offers a unique opportunity to develop predictors of symptom onset.MethodsWe created dementia risk scores in 268 familial frontotemporal lobar degeneration family members by entering covariate-adjusted standardized estimates of brain atrophy into a logistic regression to classify asymptomatic versus demented participants. The score's predictive value was tested in a separate group who were followed up longitudinally (stable vs. converted to dementia) using Cox proportional regressions with dementia risk score as the predictor.ResultsCross-validated logistic regression achieved good separation of asymptomatic versus demented (accuracy = 90%, SE = 0.06). Atrophy scores predicted conversion from asymptomatic or mildly/questionably symptomatic to dementia (HR = 1.51, 95% CI: [1.16,1.98]).DiscussionIndividualized quantification of baseline brain atrophy is a promising predictor of progression in asymptomatic familial frontotemporal lobar degeneration mutation carriers.

Published
2020

9. Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

Author

Miyagawa, Toji, Brushaber, Danielle, Syrjanen, Jeremy, Kremers, Walter, Fields, Julie, Forsberg, Leah K, Heuer, Hilary W, Knopman, David, Kornak, John, Boxer, Adam, Rosen, Howard J, Boeve, Bradley F, Appleby, Brian, Bordelon, Yvette, Bove, Jessica, Brannelly, Patrick, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford, Dickinson, Susan, Dominguez, Sophia, Domoto‐Reilly, Kimiko, Faber, Kelley, Ferrell, Jessica, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill S, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Robin, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Kraft, Ruth, Kramer, Joel, Kukull, Walter, Litvan, Irene, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian, Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott, McKinley, Emily, Mendez, Mario F, Miller, Bruce, Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Leonard, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana M, Rankin, Kate, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie, Tartaglia, Maria C, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Wang, Ping, Weintraub, Sandra, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Dementia, Frontotemporal Dementia (FTD), Neurosciences, Neurodegenerative, Acquired Cognitive Impairment, Clinical Trials and Supportive Activities, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Brain Disorders, Aged, Aphasia, Primary Progressive, Cross-Sectional Studies, Female, Frontotemporal Lobar Degeneration, Humans, Male, Mental Status and Dementia Tests, Middle Aged, behavior, comportment, personality, CDR, CDR plus NACC FTLD, frontotemporal lobar degeneration, global rating, language, CDR®, behavior, comportment, and personality, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionWe created global rating scoring rules for the CDR® plus NACC FTLD to detect and track early frontotemporal lobar degeneration (FTLD) and to conduct clinical trials in FTLD.MethodsThe CDR plus NACC FTLD rating was applied to 970 sporadic and familial participants from the baseline visit of Advancing Research and Treatment in Frontotemporal Lobar Degeneration (ARTFL)/Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS). Each of the eight domains of the CDR plus NACC FTLD was equally weighed in determining the global score. An interrater reliability study was completed for 40 participants.ResultsThe CDR plus NACC FTLD showed very good interrater reliability. It was especially useful in detecting clinical features of mild non-fluent/agrammatic variant primary progressive aphasia participants.DiscussionThe global CDR plus NACC FTLD score could be an attractive outcome measure for clinical trials in symptomatic FTLD, and may be useful in natural history studies and clinical trials in FTLD spectrum disorders.

Published
2020

10. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

Author

Ramos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y, Deverasetty, Sandeep, Qin, Yue, van Blitterswijk, Marka, Jackson, Jazmyne, Appleby, Brian, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle E, Dickerson, Bradford, Dickinson, Susan, Domoto‐Reilly, Kimiko, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K, Gavrilova, Ralitza, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grant, Ian, Grossman, Murray, Heuer, Hilary W, Hsiung, Ging‐Yuek R, Huey, Edward, Irwin, David, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Knopman, David, Kornak, John, Kramer, Joel H, Kremers, Walter, Kukull, Walter, Litvan, Irene, Ljubenkov, Peter, Lungu, Codrin, Mackenzie, Ian, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rankin, Katherine P, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily, Shaw, Leslie, Syrjanen, Jeremy, Tartaglia, Maria Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Rademakers, Rosa, Boeve, Brad F, Rosen, Howard J, Boxer, Adam L, consortium, on behalf of the ARTFL LEFFTDS, and Coppola, Giovanni

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurodegenerative, Frontotemporal Dementia (FTD), Genetics, Alzheimer's Disease, Human Genome, Prevention, Rare Diseases, Aging, Brain Disorders, Clinical Research, Acquired Cognitive Impairment, Genetic Testing, Alzheimer's Disease Related Dementias (ADRD), Aetiology, 2.1 Biological and endogenous factors, Neurological, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Progranulins, tau Proteins, C9orf72, familial, frontotemporal dementia, GRN, MAPT, sporadic, ARTFL/LEFFTDS consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionThe Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.MethodsWe screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies.ResultsAmong the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes.DiscussionOur study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history.

Published
2020

11. 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, Rosen, Howard J, and consortia, on behalf of the ARTFL and LEFFTDS

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Neurosciences, Clinical Research, Alzheimer's Disease Related Dementias (ADRD), Rare Diseases, Aging, Frontotemporal Dementia (FTD), Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Behavioral and Social Science, Dementia, Clinical Trials and Supportive Activities, Brain Disorders, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Atrophy, C9orf72 Protein, Female, Frontotemporal Lobar Degeneration, Genetic Predisposition to Disease, Humans, Image Processing, Computer-Assisted, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Progranulins, Temporal Lobe, tau Proteins, C9ORF72, Familial, Frontotemporalobar degeneration, Genetic, GRN, MAPT, ARTFL and LEFFTDS consortia, Frontotemporal lobar degeneration, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionThe Advancing Research and Treatment in Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects longitudinal studies were designed to describe the natural history of familial-frontotemporal lobar degeneration due to autosomal dominant mutations.MethodsWe examined cognitive performance, behavioral ratings, and brain volumes from the first time point in 320 MAPT, GRN, and C9orf72 family members, including 102 non-mutation carriers, 103 asymptomatic carriers, 43 mildly/questionably symptomatic carriers, and 72 carriers with dementia.ResultsAsymptomatic carriers showed similar scores on all clinical measures compared with noncarriers but reduced frontal and temporal volumes. Those with mild/questionable impairment showed decreased verbal recall, fluency, and Trail Making Test performance and impaired mood and self-monitoring. Dementia was associated with impairment in all measures. All MAPT carriers with dementia showed temporal atrophy, but otherwise, there was no single cognitive test or brain region that was abnormal in all subjects.DiscussionImaging changes appear to precede clinical changes in familial-frontotemporal lobar degeneration, but specific early clinical and imaging changes vary across individuals.

Published
2020

12. P2-314: THE MULTIDOMAIN IMPAIRMENT RATING (MIR) SCALE: INITIAL RELIABILITY DATA ON A MULTIDIMENSIONAL SCALE DESIGNED FOR FTLD SPECTRUM DISORDERS

Author

Forsberg, Leah K, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Kornak, John, Heuer, Hilary W, Fields, Julie A, Brushaber, Danielle, Machulda, Mary M, Sturm, Virginia, Staffaroni, Adam M, Ljubenkov, Peter A, Denver, Reilly, Ong, Elise, Appleby, Brian, Bordelon, Yvette M, Brannelly, Patrick, Coppola, Giovanni, Dickerson, Brad C, Dickinson, Susan, Kimiko, Domoto-Reilly, Faber, Kelley, Fong, Jamie, Foroud, Tatiana M, Gavrilova, Ralitza H, Gearhart, Debra, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neil R, Grossman, Murray, Robin Hsiung, Ging-Yuek, Huey, Edward D, Irwin, David, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Kerwin, Diana R, Knopman, David S, Kraft, Ruth A, Kramer, Joel H, Kremers, Walter K, Kukull, Walter A, Litvan, Irene, Lucente, Diane E, Lungu, Codrin, Mackenzie, Ian R, McGinnis, Scott M, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi U, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Leonard, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily J, Shaw, Leslie M, Sutherland, Marg, Syrjanen, Jeremy, Tartaglia, Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W, Trojanowski, John Q, Weintraub, Sandra, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Geriatrics, Clinical Sciences, Neurosciences
Published
2019

13. Transethnic genome‐wide scan identifies novel Alzheimer's disease loci

Author

Jun, Gyungah R, Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W, Bennett, David A, Buxbaum, Joseph D, Byrd, Goldie S, Carrasquillo, Minerva M, Crane, Paul K, Cruchaga, Carlos, De Jager, Philip, Ertekin‐Taner, Nilufer, Evans, Denis, Fallin, M Danielle, Foroud, Tatiana M, Friedland, Robert P, Goate, Alison M, Graff‐Radford, Neill R, Hendrie, Hugh, Hall, Kathleen S, Hamilton‐Nelson, Kara L, Inzelberg, Rivka, Kamboh, M Ilyas, Kauwe, John SK, Kukull, Walter A, Kunkle, Brian W, Kuwano, Ryozo, Larson, Eric B, Logue, Mark W, Manly, Jennifer J, Martin, Eden R, Montine, Thomas J, Mukherjee, Shubhabrata, Naj, Adam, Reiman, Eric M, Reitz, Christiane, Sherva, Richard, St. George‐Hyslop, Peter H, Thornton, Timothy, Younkin, Steven G, Vardarajan, Badri N, 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 S, Barmada, Michjael M, Barnes, Lisa L, Beach, Thomas G, Becker, James T, Bigio, Eileen H, Bird, Thomas D, Blacker, Deborah, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Cao, Chuanhai, Carlson, Chris S, Carlsson, Cynthia M, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cribbs, David H, Crocco, Elizabeth A, De Jager, Philip L, DeCarli, Charles, DeKosky, Steven T, Demirci, F Yesim, Dick, Malcolm, Dickson, Dennis W, Doody, Rachelle S, Duara, Ranjan, Faber, Kelley M, Fairchild, Thomas J, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Glass, Jonathan D, Green, Robert C, and Growdon, John H

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Genetics, Dementia, Alzheimer's Disease, Aging, Prevention, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Alzheimer Disease, Apolipoprotein E4, GTPase-Activating Proteins, Genetic Predisposition to Disease, Genome-Wide Association Study, Heparin-binding EGF-like Growth Factor, Humans, Membrane Glycoproteins, Molecular Chaperones, NFI Transcription Factors, Peroxisomal Bifunctional Enzyme, Polymorphism, Single Nucleotide, Receptors, GABA, Alzheimer's Disease Genetics Consortium, APOE interaction, Alzheimer's disease, Genome-wide association, Transethnic, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionGenetic 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.MethodsWe 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.ResultsGenome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)-based tests (P

Published
2017

14. [P2–303]: ADVANCING RESEARCH AND TREATMENT IN FRONTOTEMPORAL LOBAR DEGENERATION (ARTFL) NORTH AMERICAN RARE DISEASE CLINICAL RESEARCH CONSORTIUM: PROGRESS AND CHARACTERIZATION OF INITIAL PARTICIPANTS

Author

Boxer, Adam L, Rosen, Howard J, Boeve, Brad F, Heuer, Hilary, Grossman, Murray, Coppola, Giovanni, Dickerson, Bradford C, Bordelon, Yvette M, Dheel, Christina, Faber, Kelley, Fields, Julie A, Fong, Jamie, Foroud, Tatiana M, Ghoshal, Nupur, Graff‐Radford, Neil, Hsiung, Ging‐Yuek Robin, Huey, Edward D, Irwin, David J, Kantarci, Kejal, Kaufer, Daniel, Karydas, Anna, Knopman, David S, Kramer, Joel H, Kukull, Walter A, Litvan, Irene, Lungu, Codrin, Mackenzie, Ian R, Mendez, Mario F, Miller, Bruce L, Miller, Matt R, Onyike, Chiadi U, Pantelyat, Alex, Potter, Madeline, Rademakers, Rosa, Roberson, Erik D, Sutherland, Margaret, Tartaglia, Maria Carmela, Toga, Arthur W, Weintraub, Sandra, and Wszolek, Zbigniew

Subjects
Clinical Sciences, Neurosciences, Geriatrics
Published
2017

15. Multisite assessment of NIA‐AA guidelines for the neuropathologic evaluation of Alzheimer's disease

Author

Montine, Thomas J, Monsell, Sarah E, Beach, Thomas G, Bigio, Eileen H, Bu, Yunqi, Cairns, Nigel J, Frosch, Matthew, Henriksen, Jonathan, Kofler, Julia, Kukull, Walter A, Lee, Edward B, Nelson, Peter T, Schantz, Aimee M, Schneider, Julie A, Sonnen, Joshua A, Trojanowski, John Q, Vinters, Harry V, Zhou, Xiao‐Hua, and Hyman, Bradley T

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Acquired Cognitive Impairment, Dementia, Brain Disorders, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Neurological, Alzheimer Disease, Brain, Humans, National Institute on Aging (U.S.), Neuropathology, Practice Guidelines as Topic, United States, Voluntary Health Agencies, Alzheimer's disease, Methods, Whole-slide imaging, Multisite, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionNeuropathologic assessment is the current "gold standard" for evaluating the Alzheimer's disease (AD), but there is no consensus on the methods used.MethodsFifteen unstained slides (8 brain regions) from each of the 14 cases were prepared and distributed to 10 different National Institute on Aging AD Centers for application of usual staining and evaluation following recently revised guidelines for AD neuropathologic change.ResultsCurrent practice used in the AD Centers Program achieved robustly excellent agreement for the severity score for AD neuropathologic change (average weighted κ = .88, 95% confidence interval: 0.77-0.95) and good-to-excellent agreement for the three supporting scores. Some improvement was observed with consensus evaluation but not with central staining of slides. Evaluation of glass slides and digitally prepared whole-slide images was comparable.DiscussionAD neuropathologic evaluation as performed across AD Centers yields data that have high agreement with potential modifications for modest improvements.

Published
2016

17. Relationships between neuroimaging parameters, APOE genotypes and composite scores for memory, executive functioning and language from the National Alzheimer’s Coordinating Center (NACC)

Author

Lee, Michael L., primary, Scollard, Phoebe, additional, Gibbons, Laura E, additional, Mukherjee, Shubhabrata, additional, Choi, Seo‐Eun, additional, Klinedinst, Brandon S, additional, Trittschuh, Emily H., additional, Mez, Jesse B., additional, Saykin, Andrew J., additional, Dumitrescu, Logan C, additional, Kukull, Walter A., additional, Hohman, Timothy J., additional, and Crane, Paul K, additional

Published
2023
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18. Cognitive Clusters of Early‐onset non‐Alzheimer’s disease

Author

Kim, Hee Jin, primary, Lane, Kathleen A., additional, Gao, Sujuan, additional, Hammers, Dustin B., additional, Logan, Paige E., additional, Aisen, Paul S. S, additional, Dage, Jeff L., additional, Eloyan, Ani, additional, Foroud, Tatiana M., additional, Grinberg, Lea T., additional, Iaccarino, Leo, additional, Jack, Clifford R., additional, Kramer, Joel H., additional, Koeppe, Robert A., additional, Kukull, Walter A., additional, La Joie, Renaud, additional, Mundada, Nidhi S, additional, Murray, Melissa E., additional, Nudelman, Kelly N. H., additional, Rumbaugh, Malia C., additional, Soleimani‐Meigooni, David N., additional, Toga, Arthur W., additional, Taurone, Alexander, additional, Vemuri, Prashanthi, additional, Atri, Alireza, additional, Day, Gregory S., additional, Duara, Ranjan, additional, Graff‐Radford, Neill R., additional, Honig, Lawrence S., additional, Jones, David T., additional, Masdeu, Joseph C., additional, Mendez, Mario F., additional, Musiek, Erik S., additional, Onyike, Chiadi, additional, Riddle, Meghan C., additional, Rogalski, Emily J, additional, Salloway, Stephen, additional, Sha, Sharon, additional, Turner, R. Scott, additional, Wingo, Thomas S., additional, Wolk, David, additional, Carrillo, Maria C., additional, Dickerson, Brad C., additional, Rabinovici, Gil D., additional, and Apostolova, Liana G., additional

Published
2023
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19. Harmonization of amyloid and tau PET tracers in a multi‐center cohort from NIA Alzheimer’s disease research centers in the United States

Author

Harrison, Theresa M., primary, Landau, Susan M., additional, Baker, Suzanne L., additional, Lee, JiaQie, additional, Ward, Tyler J., additional, Murphy, Alice, additional, Chadwick, Trevor, additional, Mormino, Elizabeth C., additional, Johnson, Sterling C, additional, Rogalski, Emily J, additional, Koeppe, Robert A., additional, Decarli, Charles, additional, Toga, Arthur W., additional, Kukull, Walter A., additional, Biber, Sarah, additional, Jack, Clifford R., additional, and Jagust, William J., additional

Published
2023
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20. Validation of a Video Adaptation of the UDSv3 Cognitive Battery (VCog): Study Design and Preliminary Participant Satisfaction Results

Author

Sachs, Bonnie C., primary, Latham, Lauren, additional, Craft, Suzanne, additional, Barnes, Lisa L., additional, Clark, Lindsay R., additional, Dodge, Hiroko H, additional, Duff, Kevin, additional, Farias, Sarah Tomaszewski, additional, Fischer, Eric, additional, Gaussoin, Sarah A., additional, Goldstein, Felicia C, additional, Hampstead, Benjamin M., additional, Jayadev, Suman, additional, Jicha, Gregory A, additional, Kaye, Jeffrey A, additional, Kukull, Walter A., additional, O'Connell, Abigail H, additional, Mechanic‐Hamilton, Dawn, additional, Neugroschl, Judith A., additional, Papp, Kathryn V., additional, Saykin, Andrew J., additional, Sewell, Margaret, additional, and Rapp, Stephen R., additional

Published
2023
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22. Cerebral amyloid angiopathy and neuritic plaques impact tangle burden and cognitive decline in a heterogeneous clinical population

Author

Godrich, Dana, primary, Pasteris, Jeremy, additional, Martin, Eden R., additional, Schellenberg, Gerald D., additional, Pericak‐Vance, Margaret A., additional, Cuccaro, Michael L., additional, Scott, William K., additional, Rundek, Tatjana, additional, Kukull, Walter A., additional, Montine, Thomas J., additional, and Beecham, Gary W., additional

Published
2023
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26. Multi‐ethnic genome‐wide, gene‐based study identifies genes that interact with vascular risk factors in Alzheimer’s Disease (AD)

Author

Lee, Annie J, primary, Reyes‐Dumeyer, Dolly, additional, De Jager, Philip L, additional, Bennett, David A. A, additional, Schneider, Julie A, additional, Menon, Vilas, additional, Wang, Yanling, additional, Lantigua, Rafael A., additional, Medrano, Martin, additional, Mejia, Diones Rivera, additional, Jiménez‐Velázquez, Ivonne Z., additional, Kukull, Walter A., additional, Brickman, Adam M., additional, Manly, Jennifer J., additional, Tosto, Giuseppe, additional, Kizil, Caghan, additional, Farrer, Lindsay A., additional, Mez, Jesse B., additional, Chung, Jaeyoon, additional, Vardarajan, Badri N, additional, and Mayeux, Richard, additional

Published
2023
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28. Baseline neuropsychiatric symptoms and psychotropic medication use midway through data collection of the Longitudinal Early‐ Onset Alzheimer’s Disease Study (LEADS) Cohort

Author

Polsinelli, Angelina J, primary, Wonderlin, Ryan J, additional, Hammers, Dustin B., additional, Garcia, Alex Pena, additional, Eloyan, Ani, additional, Taurone, Alexander, additional, Thangarajah, Maryanne, additional, Beckett, Laurel, additional, Gao, Sujuan, additional, Wang, Sophia, additional, Kirby, Kala, additional, Logan, Paige E., additional, Aisen, Paul S. S, additional, Dage, Jeff L., additional, Foroud, Tatiana M., additional, Griffin, Percy, additional, Iaccarino, Leo, additional, Kramer, Joel H., additional, Koeppe, Robert A., additional, Kukull, Walter A., additional, La Joie, Renaud, additional, Mundada, Nidhi S, additional, Murray, Melissa E., additional, Nudelman, Kelly N. H., additional, Soleimani‐Meigooni, David N., additional, Rumbaugh, Malia C., additional, Toga, Arthur W., additional, Touroutoglou, Alexandra, additional, Vemuri, Prashanthi, additional, Atri, Alireza, additional, Day, Gregory S., additional, Duara, Ranjan, additional, Graff‐Radford, Neill R, additional, Honig, Lawrence S., additional, Jones, David T., additional, Masdeu, Joseph C., additional, Mendez, Mario F., additional, Musiek, Erik S., additional, Onyike, Chiadi, additional, Riddle, Meghan C., additional, Rogalski, Emily J, additional, Salloway, Stephen, additional, Sha, Sharon, additional, Turner, Raymond Scott, additional, Wingo, Thomas S., additional, Wolk, David, additional, Womack, Kyle B., additional, Carrillo, Maria C., additional, Dickerson, Brad C., additional, Rabinovici, Gil D., additional, and Apostolova, Liana G., additional

Published
2023
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29. Interaction of genetic and cardiovascular risk factors identifies pathways involved in Alzheimer’s Disease

Author

Lee, Annie J, primary, Raghavan, Neha S, additional, Bhattarai, Prabesh, additional, Reyes‐Dumeyer, Dolly, additional, De Jager, Philip L, additional, Bennett, David A. A, additional, Schneider, Julie A, additional, Menon, Vilas, additional, Wang, Yanling, additional, Lantigua, Rafael A, additional, Medrano, Martin, additional, Mejia, Diones Rivera, additional, Jiménez‐Velázquez, Ivonne Z., additional, Kukull, Walter A., additional, Brickman, Adam M., additional, Manly, Jennifer J., additional, Tosto, Giuseppe, additional, Mayeux, Richard, additional, Kizil, Caghan, additional, and Vardarajan, Badri N, additional

Published
2023
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30. A Genome‐Wide Search for Pleiotropy in More Than 100,000 Harmonized Longitudinal Cognitive Domain Scores

Author

Kang, Moonil, primary, Ang, Ting Fang Alvin, additional, Devine, Sherral A., additional, Sherva, Richard, additional, Mukherjee, Shubhabrata, additional, Trittschuh, Emily H., additional, Gibbons, Laura E, additional, Scollard, Phoebe, additional, Lee, Michael L., additional, Choi, Seo‐Eun, additional, Klinedinst, Brandon S, additional, Nakano, Connie, additional, Dumitrescu, Logan C, additional, Hohman, Timothy J., additional, Cuccaro, Michael L., additional, Saykin, Andrew J., additional, Kukull, Walter A., additional, Bennett, David A. A, additional, Wang, Li‐San, additional, Mayeux, Richard, additional, Haines, Jonathan L., additional, Pericak‐Vance, Margaret A., additional, Schellenberg, Gerald D., additional, Crane, Paul K, additional, Au, Rhoda, additional, Lunetta, Kathryn L., additional, Mez, Jesse B., additional, and Farrer, Lindsay A., additional

Published
2023
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32. 2014 Report on the Milestones for the US National Plan to Address Alzheimer's Disease

Author

Workgroup, Alzheimer's Association National Plan Milestone, Fargo, Keith N, Aisen, Paul, Albert, Marilyn, Au, Rhoda, Corrada, Maria M, DeKosky, Steven, Drachman, David, Fillit, Howard, Gitlin, Laura, Haas, Magali, Herrup, Karl, Kawas, Claudia, Khachaturian, Ara S, Khachaturian, Zaven S, Klunk, William, Knopman, David, Kukull, Walter A, Lamb, Bruce, Logsdon, Rebecca G, Maruff, Paul, Mesulam, Marsel, Mobley, William, Mohs, Richard, Morgan, David, Nixon, Ralph A, Paul, Steven, Petersen, Ronald, Plassman, Brenda, Potter, William, Reiman, Eric, Reisberg, Barry, Sano, Mary, Schindler, Rachel, Schneider, Lon S, Snyder, Peter J, Sperling, Reisa A, Yaffe, Kristine, Bain, Lisa J, Thies, William H, and Carrillo, Maria C

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Acquired Cognitive Impairment, Prevention, Neurodegenerative, Alzheimer's Disease, Brain Disorders, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurological, Alzheimer Disease, Animals, Biological Ontologies, Biomarkers, Drug Discovery, Health Policy, Humans, Patient Selection, Public-Private Sector Partnerships, Translational Research, Biomedical, United States, United States Dept. of Health and Human Services, Voluntary Health Agencies, Policy, National Plan to Address Alzheimer's Disease, Milestones, Alzheimer's Association National Plan Milestone Workgroup, Geriatrics, Clinical sciences, Biological psychology
Abstract

With increasing numbers of people with Alzheimer's and other dementias across the globe, many countries have developed national plans to deal with the resulting challenges. In the United States, the National Alzheimer's Project Act, signed into law in 2011, required the creation of such a plan with annual updates thereafter. Pursuant to this, the US Department of Health and Human Services (HHS) released the National Plan to Address Alzheimer's Disease in 2012, including an ambitious research goal of preventing and effectively treating Alzheimer's disease by 2025. To guide investments, activities, and the measurement of progress toward achieving this 2025 goal, in its first annual plan update (2013) HHS also incorporated into the plan a set of short, medium and long-term milestones. HHS further committed to updating these milestones on an ongoing basis to account for progress and setbacks, and emerging opportunities and obstacles. To assist HHS as it updates these milestones, the Alzheimer's Association convened a National Plan Milestone Workgroup consisting of scientific experts representing all areas of Alzheimer's and dementia research. The workgroup evaluated each milestone and made recommendations to ensure that they collectively constitute an adequate work plan for reaching the goal of preventing and effectively treating Alzheimer's by 2025. This report presents these Workgroup recommendations.

Published
2014

34. Genetic Data Identify Dual‐enrolled Participants in Alzheimer's Disease and Related Dementia (ADRD) Studies

Author

Nudelman, Kelly N. H., primary, Franklin, Erin E., additional, Wyss, Catharine M., additional, Jackson, Trever, additional, Bernhardt, Haley, additional, Case, K. Rose, additional, Lacy, Kaci, additional, Faber, Kelley M., additional, Kukull, Walter A., additional, Wang, Li‐San, additional, Saykin, Andrew J., additional, Perrin, Richard J., additional, Morris, John C., additional, Weiner, Michael W., additional, and Foroud, Tatiana M., additional

Published
2022
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37. The Asian Cohort for Alzheimer’s Disease (ACAD) Pilot Study

Author

Wang, Li‐San, primary, Ho, Pei‐Chuan, additional, Tee, Boon Lead, additional, Li, Clara, additional, Gu, Yian, additional, Yokoyama, Jennifer S., additional, Vardarajan, Badri N., additional, Reyes‐Dumeyer, Dolly, additional, Faber, Kelley M., additional, Lee, Wan‐Ping, additional, Tzuang, Marian, additional, Choi, Yun‐Beom, additional, Feldman, Howard H., additional, Henderson, Victor, additional, Hsiung, Ging‐Yuek Robin, additional, Mayeux, Richard, additional, Rosen, Howard J., additional, Varma, Rohit, additional, Foroud, Tatiana M., additional, Kukull, Walter A., additional, Peavy, Guerry M., additional, Lee, Haeok, additional, Yu, W. Haung, additional, Chui, Helena C, additional, Jun, Gyungah R, additional, Park, Van Ta, additional, and Chow, Tiffany W, additional

Published
2022
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38. Biomarkers of Alzheimer syndrome and related dementias: A&D author's guide

Author

Lutz, Michael W., primary, Khachaturian, Ara S., additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Willette, Auriel A., additional, Mielke, Michelle M., additional, Hayden, Kathleen M., additional, Dodge, Hiroko H., additional, Tang, Yi, additional, Greenberg, Barry D., additional, Kukull, Walter A, additional, and Khachaturian, Zaven S, additional

Published
2022
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42. Racial‐ethnic differences in baseline and longitudinal change in neuropsychological test scores in the NACC Uniform Data Set 3.0

Author

Chan, Kwun Chuen Gary, primary, Barnes, Lisa L., additional, Saykin, Andrew J., additional, Sano, Mary, additional, Au, Rhoda, additional, Craft, Suzanne, additional, Teylan, Merilee A., additional, Levey, Allan I, additional, Weintraub, Sandra, additional, Kukull, Walter A., additional, and Dodge, Hiroko H, additional

Published
2021
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43. Neuropsychiatric abnormalities in familial frontotemporal dementia: Findings from the LEFFTDS Cohort

Author

Forsberg, Leah K., primary, Boeve, Bradley F., additional, Rosen, Howard J., additional, Boxer, Adam L., additional, Syrjanen, Jeremy, additional, Brushaber, Danielle, additional, Coppolla, Giovanni, additional, Dickerson, Brad C., additional, Fields, Julie A., additional, Fong, Jamie, additional, Gavrilova, Ralitza H., additional, Ghoshal, Nupur, additional, Goldman, Jill, additional, Graff‐Radford, Jonathan, additional, Graff‐Radford, Neill R., additional, Grossman, Murray, additional, Heuer, Hilary W., additional, Hsiung, Ging‐Yuek Robin, additional, Huey, Edward, additional, Irwin, David J., additional, Jones, David T., additional, Kantarci, Kejal, additional, Karydas, Anna M., additional, Knopman, David S., additional, Kornak, John, additional, Kramer, Joel H., additional, Kremers, Walter K., additional, Kukull, Walter A., additional, Ljubenkov, Peter A., additional, Mackenzie, Ian R., additional, McGinnis, Scott, additional, Miller, Bruce L., additional, Rademakers, Rosa, additional, Ramos, Eliana Marisa, additional, Rankin, Katherine, additional, Rascovsky, Katya, additional, Sturm, Virginia, additional, Staffaroni, Adam M., additional, Taylor, Joanne, additional, Wong, Bonnie, additional, and Wszolek, Zbigniew, additional

Published
2020
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44. Multimodal genome‐wide meta‐analysis of brain amyloidosis reveals heterogeneity across CSF, PET, and pathological amyloid measures

Author

Archer, Derek B., primary, Mahoney, Emily R., additional, Dumitrescu, Logan, additional, Jefferson, Angela L., additional, Jagust, William J., additional, Resnick, Susan M., additional, Bilgel, Murat, additional, Johnson, Sterling C., additional, Engelman, Corinne D., additional, Cruchaga, Carlos, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Deming, Yuetiva, additional, Sperling, Reisa A., additional, Johnson, Keith A., additional, Buckley, Rachel F., additional, Larson, Eric B., additional, Mayeux, Richard, additional, Bennett, David A., additional, Schneider, Julie A., additional, Kukull, Walter A., additional, Keene, C. Dirk, additional, Montine, Thomas J., additional, Beecham, Gary W., additional, Schellenberg, Gerard D., additional, and Hohman, Timothy J., additional

Published
2020
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45. Cognitive performance among participants with Alzheimer’s disease and cerebral amyloid angiopathy

Author

Teylan, Merilee, primary, Schwabe‐Fry, Kristen, additional, Hughes, Timothy M., additional, Besser, Lilah M, additional, Brenowitz, Willa D., additional, Keene, C. Dirk, additional, Gauthreaux, Kathryn, additional, Culhane, Jessica E., additional, Miller, Zachary, additional, Chen, Yen‐Chi, additional, Chan, Kwun Chuen Gary, additional, Mock, Charles, additional, and Kukull, Walter A., additional

Published
2020
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50. Association between enrollment factors and incident cognitive impairment in Blacks and Whites: Data from the Alzheimer's Disease Center

Author

Gleason, Carey E., primary, Norton, Derek, additional, Zuelsdorff, Megan, additional, Benton, Susan F., additional, Wyman, Mary F., additional, Nystrom, Naomi, additional, Lambrou, Nickolas, additional, Salazar, Hector, additional, Koscik, Rebecca L., additional, Jonaitis, Erin, additional, Carter, Fabu, additional, Harris, Brieanna, additional, Gee, Alexander, additional, Chin, Nathaniel, additional, Ketchum, Frederick, additional, Johnson, Sterling C., additional, Edwards, Dorothy F., additional, Carlsson, Cynthia M., additional, Kukull, Walter, additional, and Asthana, Sanjay, additional

Published
2019
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