Author: "Kukull, Walter A." / Publication Year Range: Last 3 years - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Kukull, Walter A."' showing total 266 results

Start Over Author "Kukull, Walter A." Publication Year Range Last 3 years

266 results on '"Kukull, Walter A."'

1. Multi-Modality Conditioned Variational U-Net for Field-of-View Extension in Brain Diffusion MRI

Author: Li, Zhiyuan, Yao, Tianyuan, Kanakaraj, Praitayini, Gao, Chenyu, Bao, Shunxing, Zuo, Lianrui, Kim, Michael E., Newlin, Nancy R., Rudravaram, Gaurav, Khairi, Nazirah M., Huo, Yuankai, Schilling, Kurt G., Kukull, Walter A., Toga, Arthur W., Archer, Derek B., Hohman, Timothy J., and Landman, Bennett A.
Subjects: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning
Abstract: An incomplete field-of-view (FOV) in diffusion magnetic resonance imaging (dMRI) can severely hinder the volumetric and bundle analyses of whole-brain white matter connectivity. Although existing works have investigated imputing the missing regions using deep generative models, it remains unclear how to specifically utilize additional information from paired multi-modality data and whether this can enhance the imputation quality and be useful for downstream tractography. To fill this gap, we propose a novel framework for imputing dMRI scans in the incomplete part of the FOV by integrating the learned diffusion features in the acquired part of the FOV to the complete brain anatomical structure. We hypothesize that by this design the proposed framework can enhance the imputation performance of the dMRI scans and therefore be useful for repairing whole-brain tractography in corrupted dMRI scans with incomplete FOV. We tested our framework on two cohorts from different sites with a total of 96 subjects and compared it with a baseline imputation method that treats the information from T1w and dMRI scans equally. The proposed framework achieved significant improvements in imputation performance, as demonstrated by angular correlation coefficient (p < 1E-5), and in downstream tractography accuracy, as demonstrated by Dice score (p < 0.01). Results suggest that the proposed framework improved imputation performance in dMRI scans by specifically utilizing additional information from paired multi-modality data, compared with the baseline method. The imputation achieved by the proposed framework enhances whole brain tractography, and therefore reduces the uncertainty when analyzing bundles associated with neurodegenerative., Comment: 20 pages; 8 figures
Published: 2024

2. Field-of-View Extension for Brain Diffusion MRI via Deep Generative Models

Author: Gao, Chenyu, Bao, Shunxing, Kim, Michael, Newlin, Nancy, Kanakaraj, Praitayini, Yao, Tianyuan, Rudravaram, Gaurav, Huo, Yuankai, Moyer, Daniel, Schilling, Kurt, Kukull, Walter, Toga, Arthur, Archer, Derek, Hohman, Timothy, Landman, Bennett, and Li, Zhiyuan
Subjects: Computer Science - Computer Vision and Pattern Recognition
Abstract: Purpose: In diffusion MRI (dMRI), the volumetric and bundle analyses of whole-brain tissue microstructure and connectivity can be severely impeded by an incomplete field-of-view (FOV). This work aims to develop a method for imputing the missing slices directly from existing dMRI scans with an incomplete FOV. We hypothesize that the imputed image with complete FOV can improve the whole-brain tractography for corrupted data with incomplete FOV. Therefore, our approach provides a desirable alternative to discarding the valuable dMRI data, enabling subsequent tractography analyses that would otherwise be challenging or unattainable with corrupted data. Approach: We propose a framework based on a deep generative model that estimates the absent brain regions in dMRI scans with incomplete FOV. The model is capable of learning both the diffusion characteristics in diffusion-weighted images (DWI) and the anatomical features evident in the corresponding structural images for efficiently imputing missing slices of DWI outside of incomplete FOV. Results: For evaluating the imputed slices, on the WRAP dataset the proposed framework achieved PSNRb0=22.397, SSIMb0=0.905, PSNRb1300=22.479, SSIMb1300=0.893; on the NACC dataset it achieved PSNRb0=21.304, SSIMb0=0.892, PSNRb1300=21.599, SSIMb1300= 0.877. The proposed framework improved the tractography accuracy, as demonstrated by an increased average Dice score for 72 tracts (p < 0.001) on both the WRAP and NACC datasets. Conclusions: Results suggest that the proposed framework achieved sufficient imputation performance in dMRI data with incomplete FOV for improving whole-brain tractography, thereby repairing the corrupted data. Our approach achieved more accurate whole-brain tractography results with extended and complete FOV and reduced the uncertainty when analyzing bundles associated with Alzheimer's Disease., Comment: 20 pages, 11 figures
Published: 2024
Full Text: View/download PDF

3. Investigation of the genetic aetiology of Lewy body diseases with and without dementia

Author: Wu, Lesley Yue, Real, Raquel, Martinez-Carrasco, Alejandro, Chia, Ruth, Lawton, Michael A, Shoai, Maryam, Bresner, Catherine, Blauwendraat, Cornelis, Singleton, Andrew B, Ryten, Mina, Abramzon, Yevgeniya, Ahmed, Sarah, Alba, Camille, Albert, Marilyn S, Bacikova, Dagmar, Barrett, Matthew J, Beach, Thomas G, Bennett, David A, Besser, Lilah M, Bigio, Eileen H, Boeve, Bradley F, Bohannan, Ryan C, Caraway, Chad A, Palma, Jose-Alberto, Dalgard, Clifton L, Dickson, Dennis, Ding, Jinhui, Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, Gibbs, J Raphael, Goate, Alison, Goldstein, David, Graff-Radford, Neill R, Hu, Heng-Chen, Hupalo, Daniel, Kaiser, Scott M, Kaufmann, Horacio, Kim, Ronald C, Klein, Gregory, Kukull, Walter, Kuzma, Amanda, Leverenz, James, Lopez, Grisel, Mao, Qinwen, Martinez-McGrath, Elisa, Masliah, Eliezer, Monuki, Ed, Newell, Kathy L, Norcliffe-Kaufmann, Lucy, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E, Resnick, Susan M, Ross, Owen A, Sabir, Marya S, Scherzer, Clemens R, Scholz, Sonja W, Serrano, Geidy, Shakkotai, Vikram, Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Traynor, Bryan J, Troncoso, Juan C, Viollet, Coralie, Walton, Ronald L, Woltjer, Randy, Wszolek, Zbigniew K, Black, Sandra E, Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Ferrari, Raffaele, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Reynolds, Regina H, Thomas, Alan J, Tilley, Bension S, Troakes, Claire, Brett, Francesca, Brice, Alexis, and Duyckaerts, Charles
Subjects: Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Genetics, Prevention, Aging, Lewy Body Dementia, Brain Disorders, Dementia, Alzheimer's Disease Related Dementias (ADRD), Parkinson's Disease, Human Genome, Acquired Cognitive Impairment, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Neurological, International Lewy Body Dementia Genomics Consortium, APOE, Lewy body diseases, dementia, genome-wide association studies, Clinical sciences, Biological psychology
Abstract: Up to 80% of Parkinson's disease patients develop dementia, but time to dementia varies widely from motor symptom onset. Dementia with Lewy bodies presents with clinical features similar to Parkinson's disease dementia, but cognitive impairment precedes or coincides with motor onset. It remains controversial whether dementia with Lewy bodies and Parkinson's disease dementia are distinct conditions or represent part of a disease spectrum. The biological mechanisms underlying disease heterogeneity, in particular the development of dementia, remain poorly understood, but will likely be the key to understanding disease pathways and, ultimately, therapy development. Previous genome-wide association studies in Parkinson's disease and dementia with Lewy bodies/Parkinson's disease dementia have identified risk loci differentiating patients from controls. We collated data for 7804 patients of European ancestry from Tracking Parkinson's, The Oxford Discovery Cohort, and Accelerating Medicine Partnership-Parkinson's Disease Initiative. We conducted a discrete phenotype genome-wide association study comparing Lewy body diseases with and without dementia to decode disease heterogeneity by investigating the genetic drivers of dementia in Lewy body diseases. We found that risk allele rs429358 tagging APOEe4 increases the odds of developing dementia, and that rs7668531 near the MMRN1 and SNCA-AS1 genes and an intronic variant rs17442721 tagging LRRK2 G2019S on chromosome 12 are protective against dementia. These results should be validated in autopsy-confirmed cases in future studies.
Published: 2024

4. Fazekas scale magnetic resonance imaging assessment in Alzheimer’s disease and primary age-related tauopathy

Author: Quintas-Neves, Miguel, Almeida, Francisco C., Gauthreaux, Kathryn, Teylan, Merilee A., Mock, Charles N., Kukull, Walter A., Crary, John F., and Oliveira, Tiago Gil
Published: 2024
Full Text: View/download PDF

5. Evolution of white matter hyperintensity segmentation methods and implementation over the past two decades; an incomplete shift towards deep learning

Author: Rahmani, Maryam, Dierker, Donna, Yaeger, Lauren, Saykin, Andrew, Luckett, Patrick H., Vlassenko, Andrei G., Owens, Christopher, Jafri, Hussain, Womack, Kyle, Fripp, Jurgen, Xia, Ying, Tosun, Duygu, Benzinger, Tammie L. S., Masters, Colin L., Lee, Jin-Moo, Morris, John C., Goyal, Manu S., Strain, Jeremy F., Kukull, Walter, Weiner, Michael, Burnham, Samantha, CoxDoecke, Tim James, Fedyashov, Victor, Fripp, Jurgen, Shishegar, Rosita, Xiong, Chengjie, Marcus, Daniel, Raniga, Parnesh, Li, Shenpeng, Aschenbrenner, Andrew, Hassenstab, Jason, Lim, Yen Ying, Maruff, Paul, Sohrabi, Hamid, Robertson, Jo, Markovic, Shaun, Bourgeat, Pierrick, Doré, Vincent, Mayo, Clifford Jack, Mussoumzadeh, Parinaz, Rowe, Chris, Villemagne, Victor, Bateman, Randy, Fowler, Chris, Li, Qiao-Xin, Martins, Ralph, Schindler, Suzanne, Shaw, Les, Cruchaga, Carlos, Harari, Oscar, Laws, Simon, Porter, Tenielle, O’Brien, Eleanor, Perrin, Richard, Kukull, Walter, Bateman, Randy, McDade, Eric, Jack, Clifford, Morris, John, Yassi, Nawaf, Bourgeat, Pierrick, Perrin, Richard, Roberts, Blaine, Villemagne, Victor, Fedyashov, Victor, and Goudey, Benjamin
Published: 2024
Full Text: View/download PDF

6. 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

7. 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

8. The status of digital pathology and associated infrastructure within Alzheimer’s Disease Centers

Author: Scalco, Rebeca, Hamsafar, Yamah, White, Charles L, Schneider, Julie A, Reichard, Robert Ross, Prokop, Stefan, Perrin, Richard J, Nelson, Peter T, Mooney, Sean, Lieberman, Andrew P, Kukull, Walter A, Kofler, Julia, Keene, Christopher Dirk, Kapasi, Alifiya, Irwin, David J, Gutman, David A, Flanagan, Margaret E, Crary, John F, Chan, Kwun C, Murray, Melissa E, and Dugger, Brittany N
Subjects: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Alzheimer's Disease, Aging, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Brain Disorders, Industry, Innovation and Infrastructure, Humans, Alzheimer Disease, Workflow, Machine Learning, Surveys and Questionnaires, Alzheimer disease, Computational pathology, Deep Learning, Digital pathology, Quantitative pathology, Slide scanner, Neurology & Neurosurgery, Clinical sciences
Abstract: Digital pathology (DP) has transformative potential, especially for Alzheimer disease and related disorders. However, infrastructure barriers may limit adoption. To provide benchmarks and insights into implementation barriers, a survey was conducted in 2019 within National Institutes of Health's Alzheimer's Disease Centers (ADCs). Questions covered infrastructure, funding sources, and data management related to digital pathology. Of the 35 ADCs to which the survey was sent, 33 responded. Most respondents (81%) stated that their ADC had digital slide scanner access, with the most frequent brand being Aperio/Leica (62.9%). Approximately a third of respondents stated there were fees to utilize the scanner. For DP and machine learning (ML) resources, 41% of respondents stated none was supported by their ADC. For scanner purchasing and operations, 50% of respondents stated they received institutional support. Some were unsure of the file size of scanned digital images (37%) and total amount of storage space files occupied (50%). Most (76%) were aware of other departments at their institution working with ML; a similar (76%) percentage were unaware of multiuniversity or industry partnerships. These results demonstrate many ADCs have access to a digital slide scanner; additional investigations are needed to further understand hurdles to implement DP and ML workflows.
Published: 2023

9. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.

Author: Kaivola, Karri, Shah, Zalak, Chia, Ruth, Black, Sandra E, Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Albert, Marilyn S, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dalgard, Clifton L, Dawson, Ted M, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, Gibbs, J Raphael, Goate, Alison, Goldstein, David S, Graff-Radford, Neill R, Kaufmann, Horacio, Kukull, Walter A, Leverenz, James B, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L, Palma, Jose Alberto, Pletnikova, Olga, Renton, Alan E, Resnick, Susan M, Rosenthal, Liana S, Ross, Owen A, Scherzer, Clemens R, Serrano, Geidy E, Shakkottai, Vikram G, Sidransky, Ellen, Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Troncoso, Juan C, Woltjer, Randy, Wszolek, Zbigniew K, and Scholz, Sonja W
Subjects: Genetics, Lewy Body Dementia, Neurodegenerative, Aging, Brain Disorders, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Alzheimer's Disease, Acquired Cognitive Impairment, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Alzheimer Disease, Apolipoprotein E4, Genome-Wide Association Study, Humans, Lewy Body Disease, alpha-Synuclein, International LBD Genomics Consortium, APOE, Alzheimer’s disease, co-pathology, dementia with Lewy bodies, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract: The APOE locus is strongly associated with risk for developing Alzheimer's disease and dementia with Lewy bodies. In particular, the role of the APOE ε4 allele as a putative driver of α-synuclein pathology is a topic of intense debate. Here, we performed a comprehensive evaluation in 2466 dementia with Lewy bodies cases versus 2928 neurologically healthy, aged controls. Using an APOE-stratified genome-wide association study approach, we found that GBA is associated with risk for dementia with Lewy bodies in patients without APOE ε4 (P = 6.58 × 10-9, OR = 3.41, 95% CI = 2.25-5.17), but not with dementia with Lewy bodies with APOE ε4 (P = 0.034, OR = 1.87, 95%, 95% CI = 1.05-3.37). We then divided 495 neuropathologically examined dementia with Lewy bodies cases into three groups based on the extent of concomitant Alzheimer's disease co-pathology: pure dementia with Lewy bodies (n = 88), dementia with Lewy bodies with intermediate Alzheimer's disease co-pathology (n = 66) and dementia with Lewy bodies with high Alzheimer's disease co-pathology (n = 341). In each group, we tested the association of the APOE ε4 against the 2928 neurologically healthy controls. Our examination found that APOE ε4 was associated with dementia with Lewy bodies + Alzheimer's disease (P = 1.29 × 10-32, OR = 4.25, 95% CI = 3.35-5.39) and dementia with Lewy bodies + intermediate Alzheimer's disease (P = 0.0011, OR = 2.31, 95% CI = 1.40-3.83), but not with pure dementia with Lewy bodies (P = 0.31, OR = 0.75, 95% CI = 0.43-1.30). In conclusion, although deep clinical data were not available for these samples, our findings do not support the notion that APOE ε4 is an independent driver of α-synuclein pathology in pure dementia with Lewy bodies, but rather implicate GBA as the main risk gene for the pure dementia with Lewy bodies subgroup.
Published: 2022

10. Psychosis in Alzheimer’s disease is associated with specific changes in brain MRI volume, cognition and neuropathology

Author: Almeida, Francisco C., Jesus, Tiago, Coelho, Ana, Quintas-Neves, Miguel, Gauthreaux, Kathryn, Teylan, Merilee A., Mock, Charles N., Kukull, Walter A., Crary, John F., and Oliveira, Tiago Gil
Published: 2024
Full Text: View/download PDF

11. A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores

Author: Kang, Moonil, Ang, Ting Fang Alvin, Devine, Sherral A., Sherva, Richard, Mukherjee, Shubhabrata, Trittschuh, Emily H., Gibbons, Laura E., Scollard, Phoebe, Lee, Michael, Choi, Seo-Eun, Klinedinst, Brandon, Nakano, Connie, Dumitrescu, Logan C., Durant, Alaina, Hohman, Timothy J., Cuccaro, Michael L., Saykin, Andrew J., Kukull, Walter A., Bennett, David A., Wang, Li-San, Mayeux, Richard P., Haines, Jonathan L., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Crane, Paul K., Au, Rhoda, Lunetta, Kathryn L., Mez, Jesse B., and Farrer, Lindsay A.
Published: 2023
Full Text: View/download PDF

12. 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

13. 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

14. Risk of Neuropsychiatric Symptoms Among People Who Develop Cognitive Impairment With and Without a History of Post-traumatic Stress Disorder

Author: Perales-Puchalt, Jaime, Gauthreaux, Kathryn, Flatt, Jason D., Meyer, Oanh L., and Kukull, Walter A.
Published: 2023
Full Text: View/download PDF

15. Risk of Neuropsychiatric Symptoms Among People Who Develop Cognitive Impairment With and Without a History of Post-traumatic Stress Disorder

Author: Perales-Puchalt, Jaime, Gauthreaux, Kathryn, Flatt, Jason D., Meyer, Oanh L., and Kukull, Walter A.
Published: 2024
Full Text: View/download PDF

16. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author: Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, and De Jager, Philip L.
Published: 2023
Full Text: View/download PDF

17. FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer’s disease

Author: Lee, Annie J., Raghavan, Neha S., Bhattarai, Prabesh, Siddiqui, Tohid, Sariya, Sanjeev, Reyes-Dumeyer, Dolly, Flowers, Xena E., Cardoso, Sarah A. L., De Jager, Philip L., Bennett, David A., Schneider, Julie A., Menon, Vilas, Wang, Yanling, Lantigua, Rafael A., Medrano, Martin, Rivera, Diones, Jiménez-Velázquez, Ivonne Z., Kukull, Walter A., Brickman, Adam M., Manly, Jennifer J., Tosto, Giuseppe, Kizil, Caghan, Vardarajan, Badri N., and Mayeux, Richard
Published: 2022
Full Text: View/download PDF

18. Divergent magnetic resonance imaging atrophy patterns in Alzheimer's disease and primary age-related tauopathy

Author: Quintas-Neves, Miguel, Teylan, Merilee A., Morais-Ribeiro, Rafaela, Almeida, Francisco, Mock, Charles N., Kukull, Walter A., Crary, John F., and Oliveira, Tiago Gil
Published: 2022
Full Text: View/download PDF

19. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author: Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E., Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C., Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A., Boland, Anne, Damotte, Vincent, van der Lee, Sven J., Costa, Marcos R., Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C., Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J., Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E., Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J., Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S., Calero, Miguel, Cantwell, Laura B., Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L., Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen A. H. R., Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D., Debette, Stéphanie, Deckert, Jürgen, del Ser, Teodoro, Denning, Nicola, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Diez-Fairen, Mónica, Rossi, Paolo Dionigi, Djurovic, Srdjan, Duron, Emmanuelle, Düzel, Emrah, Dufouil, Carole, Eiriksdottir, Gudny, Engelborghs, Sebastiaan, Escott-Price, Valentina, Espinosa, Ana, Ewers, Michael, Faber, Kelley M., Fabrizio, Tagliavini, Nielsen, Sune Fallgaard, Fardo, David W., Farotti, Lucia, Fenoglio, Chiara, Fernández-Fuertes, Marta, Ferrari, Raffaele, Ferreira, Catarina B., Ferri, Evelyn, Fin, Bertrand, Fischer, Peter, Fladby, Tormod, Fließbach, Klaus, Fongang, Bernard, Fornage, Myriam, Fortea, Juan, Foroud, Tatiana M., Fostinelli, Silvia, Fox, Nick C., Franco-Macías, Emlio, Bullido, María J., Frank-García, Ana, Froelich, Lutz, Fulton-Howard, Brian, Galimberti, Daniela, García-Alberca, Jose Maria, García-González, Pablo, Garcia-Madrona, Sebastian, Garcia-Ribas, Guillermo, Ghidoni, Roberta, Giegling, Ina, Giorgio, Giaccone, Goate, Alison M., Goldhardt, Oliver, Gomez-Fonseca, Duber, González-Pérez, Antonio, Graff, Caroline, Grande, Giulia, Green, Emma, Grimmer, Timo, Grünblatt, Edna, Grunin, Michelle, Gudnason, Vilmundur, Guetta-Baranes, Tamar, Haapasalo, Annakaisa, Hadjigeorgiou, Georgios, Haines, Jonathan L., Hamilton-Nelson, Kara L., Hampel, Harald, Hanon, Olivier, Hardy, John, Hartmann, Annette M., Hausner, Lucrezia, Harwood, Janet, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herrmann, Martin J., Hoffmann, Per, Holmes, Clive, Holstege, Henne, Vilas, Raquel Huerto, Hulsman, Marc, Humphrey, Jack, Biessels, Geert Jan, Jian, Xueqiu, Johansson, Charlotte, Jun, Gyungah R., Kastumata, Yuriko, Kauwe, John, Kehoe, Patrick G., Kilander, Lena, Ståhlbom, Anne Kinhult, Kivipelto, Miia, Koivisto, Anne, Kornhuber, Johannes, Kosmidis, Mary H., Kukull, Walter A., Kuksa, Pavel P., Kunkle, Brian W., Kuzma, Amanda B., Lage, Carmen, Laukka, Erika J., Launer, Lenore, Lauria, Alessandra, Lee, Chien-Yueh, Lehtisalo, Jenni, Lerch, Ondrej, Lleó, Alberto, Longstreth, Jr, William, Lopez, Oscar, de Munain, Adolfo Lopez, Love, Seth, Löwemark, Malin, Luckcuck, Lauren, Lunetta, Kathryn L., Ma, Yiyi, Macías, Juan, MacLeod, Catherine A., Maier, Wolfgang, Mangialasche, Francesca, Spallazzi, Marco, Marquié, Marta, Marshall, Rachel, Martin, Eden R., Montes, Angel Martín, Rodríguez, Carmen Martínez, Masullo, Carlo, Mayeux, Richard, Mead, Simon, Mecocci, Patrizia, Medina, Miguel, Meggy, Alun, Mehrabian, Shima, Mendoza, Silvia, Menéndez-González, Manuel, Mir, Pablo, Moebus, Susanne, Mol, Merel, Molina-Porcel, Laura, Montrreal, Laura, Morelli, Laura, Moreno, Fermin, Morgan, Kevin, Mosley, Thomas, Nöthen, Markus M., Muchnik, Carolina, Mukherjee, Shubhabrata, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Olaso, Robert, Orellana, Adelina, Orsini, Michela, Ortega, Gemma, Padovani, Alessandro, Paolo, Caffarra, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Peloso, Gina, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pericard, Pierre, Peters, Oliver, Pijnenburg, Yolande A. L., Pineda, Juan A., Piñol-Ripoll, Gerard, Pisanu, Claudia, Polak, Thomas, Popp, Julius, Posthuma, Danielle, Priller, Josef, Puerta, Raquel, Quenez, Olivier, Quintela, Inés, Thomassen, Jesper Qvist, Rábano, Alberto, Rainero, Innocenzo, Rajabli, Farid, Ramakers, Inez, Real, Luis M., Reinders, Marcel J. T., Reitz, Christiane, Reyes-Dumeyer, Dolly, Ridge, Perry, Riedel-Heller, Steffi, Riederer, Peter, Roberto, Natalia, Rodriguez-Rodriguez, Eloy, Rongve, Arvid, Allende, Irene Rosas, Rosende-Roca, Maitée, Royo, Jose Luis, Rubino, Elisa, Rujescu, Dan, Sáez, María Eugenia, Sakka, Paraskevi, Saltvedt, Ingvild, Sanabria, Ángela, Sánchez-Arjona, María Bernal, Sanchez-Garcia, Florentino, Juan, Pascual Sánchez, Sánchez-Valle, Raquel, Sando, Sigrid B., Sarnowski, Chloé, Satizabal, Claudia L., Scamosci, Michela, Scarmeas, Nikolaos, Scarpini, Elio, Scheltens, Philip, Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias, Schneider, Anja, Schott, Jonathan M., Selbæk, Geir, Seripa, Davide, Serrano, Manuel, Sha, Jin, Shadrin, Alexey A., Skrobot, Olivia, Slifer, Susan, Snijders, Gijsje J. L., Soininen, Hilkka, Solfrizzi, Vincenzo, Solomon, Alina, Song, Yeunjoo, Sorbi, Sandro, Sotolongo-Grau, Oscar, Spalletta, Gianfranco, Spottke, Annika, Squassina, Alessio, Stordal, Eystein, Tartan, Juan Pablo, Tárraga, Lluís, Tesí, Niccolo, Thalamuthu, Anbupalam, Thomas, Tegos, Tosto, Giuseppe, Traykov, Latchezar, Tremolizzo, Lucio, Tybjærg-Hansen, Anne, Uitterlinden, Andre, Ullgren, Abbe, Ulstein, Ingun, Valero, Sergi, Valladares, Otto, Broeckhoven, Christine Van, Vance, Jeffery, Vardarajan, Badri N., van der Lugt, Aad, Dongen, Jasper Van, van Rooij, Jeroen, van Swieten, John, Vandenberghe, Rik, Verhey, Frans, Vidal, Jean-Sébastien, Vogelgsang, Jonathan, Vyhnalek, Martin, Wagner, Michael, Wallon, David, Wang, Li-San, Wang, Ruiqi, Weinhold, Leonie, Wiltfang, Jens, Windle, Gill, Woods, Bob, Yannakoulia, Mary, Zare, Habil, Zhao, Yi, Zhang, Xiaoling, Zhu, Congcong, Zulaica, Miren, Farrer, Lindsay A., Psaty, Bruce M., Ghanbari, Mohsen, Raj, Towfique, Sachdev, Perminder, Mather, Karen, Jessen, Frank, Ikram, M. Arfan, de Mendonça, Alexandre, Hort, Jakub, Tsolaki, Magda, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, Frikke-Schmidt, Ruth, Clarimon, Jordi, Deleuze, Jean-François, Rossi, Giacomina, Seshadri, Sudha, Andreassen, Ole A., Ingelsson, Martin, Hiltunen, Mikko, Sleegers, Kristel, Schellenberg, Gerard D., van Duijn, Cornelia M., Sims, Rebecca, van der Flier, Wiesje M., Ruiz, Agustín, Ramirez, Alfredo, and Lambert, Jean-Charles
Published: 2022
Full Text: View/download PDF

20. Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy

Author: Tsuji, Shoji, primary, Nakahara, Yasuo, additional, Mitsui, Jun, additional, Date, Hidetoshi, additional, Porto, Kristine Joyce, additional, Hyashi, Yasuhiro, additional, Yamashita, Atsushi, additional, Kusakabe, Yoshio, additional, Matsukawa, Takashi, additional, Ishiura, Hiroyuki, additional, Yasuda, Tsutomu, additional, Iwata, Atsushi, additional, Goto, Jun, additional, Ichikawa, Yaeko, additional, Momose, Yoshio, additional, Takahashi, Yuji, additional, Toda, Tatsushi, additional, Ohta, Rikifumi, additional, Yoshimura, Jun, additional, Morishita, Shinichi, additional, Gustavsson, Emil, additional, Christy, Darren, additional, Maczis, Melisa, additional, Kim, Han-Joon, additional, Park, Sung-Sup, additional, Zhang, Jin, additional, Gu, Weihong, additional, Scholz, Sonja, additional, Chelban, Viorica, additional, Mok, Kin, additional, Houlden, Henry, additional, Yabe, Ichiro, additional, Sasaki, Hidenao, additional, Matsushima, Masaaki, additional, Takashima, Hiroshi, additional, Kikuchi, Akio, additional, Aoki, Masashi, additional, Hara, Kenju, additional, Kakita, Akiyoshi, additional, Yamada, Mitsunori, additional, Takahashi, Hitoshi, additional, Onodera, Osamu, additional, Nishizawa, Masatoyo, additional, Watanabe, Hirohisa, additional, Ito, Mizuki, additional, Sobue, Gen, additional, Ishikawa, Kinya, additional, Mizusawa, Hidehiro, additional, Kanai, Kazuaki, additional, Kuwabara, Satoshi, additional, Arai, Kimihito, additional, Koyano, Shigeru, additional, Kuroiwa, Yoshiyuki, additional, Hasegawa, Kazuko, additional, Yuasa, Tatsuhiko, additional, Yasui, Kenichi, additional, Nakashima, Kenji, additional, Ito, Hijiri, additional, Izumi, Yuishin, additional, Kaji, Ryuji, additional, kato, Takeo, additional, Kusunoki, Susumu, additional, Osaki, Yasushi, additional, Horiuchi, Masahiro, additional, Yamamoto, Ken, additional, Shimada, Mihoko, additional, Miyagawa, Taku, additional, Kawai, Yosuke, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Durr, Alexandra, additional, Brice, Alexis, additional, Filla, Alessandro, additional, Klockgether, Thomas, additional, Wuellner, Ullrich, additional, Tanner, Caroline, additional, Kukull, Walter, additional, Lee, Virginia, additional, Masliah, Eliezer, additional, Low, Phillip, additional, Sandroni, Paola, additional, Ozelius, Laurie, additional, Foroud, Tatiana, additional, Farrer, Matthew, additional, and Trojanowski, John, additional
Published: 2024
Full Text: View/download PDF

21. Neurological diseases, epidemiology, and public health

Author: Kukull, Walter A., additional, Govender, Kumeren, additional, and Bowen, James, additional
Published: 2021
Full Text: View/download PDF

22. Field-of-View Extension for Diffusion MRI via Deep Generative Models

Author: Gao, Chenyu, Bao, Shunxing, Kim, Michael, Newlin, Nancy, Kanakaraj, Praitayini, Yao, Tianyuan, Rudravaram, Gaurav, Huo, Yuankai, Moyer, Daniel, Schilling, Kurt, Kukull, Walter, Toga, Arthur, Archer, Derek, Hohman, Timothy, Landman, Bennett, Li, Zhiyuan, Gao, Chenyu, Bao, Shunxing, Kim, Michael, Newlin, Nancy, Kanakaraj, Praitayini, Yao, Tianyuan, Rudravaram, Gaurav, Huo, Yuankai, Moyer, Daniel, Schilling, Kurt, Kukull, Walter, Toga, Arthur, Archer, Derek, Hohman, Timothy, Landman, Bennett, and Li, Zhiyuan
Abstract: Purpose: In diffusion MRI (dMRI), the volumetric and bundle analyses of whole-brain tissue microstructure and connectivity can be severely impeded by an incomplete field-of-view (FOV). This work aims to develop a method for imputing the missing slices directly from existing dMRI scans with an incomplete FOV. We hypothesize that the imputed image with complete FOV can improve the whole-brain tractography for corrupted data with incomplete FOV. Therefore, our approach provides a desirable alternative to discarding the valuable dMRI data, enabling subsequent tractography analyses that would otherwise be challenging or unattainable with corrupted data. Approach: We propose a framework based on a deep generative model that estimates the absent brain regions in dMRI scans with incomplete FOV. The model is capable of learning both the diffusion characteristics in diffusion-weighted images (DWI) and the anatomical features evident in the corresponding structural images for efficiently imputing missing slices of DWI outside of incomplete FOV. Results: For evaluating the imputed slices, on the WRAP dataset the proposed framework achieved PSNRb0=22.397, SSIMb0=0.905, PSNRb1300=22.479, SSIMb1300=0.893; on the NACC dataset it achieved PSNRb0=21.304, SSIMb0=0.892, PSNRb1300=21.599, SSIMb1300= 0.877. The proposed framework improved the tractography accuracy, as demonstrated by an increased average Dice score for 72 tracts (p < 0.001) on both the WRAP and NACC datasets. Conclusions: Results suggest that the proposed framework achieved sufficient imputation performance in dMRI data with incomplete FOV for improving whole-brain tractography, thereby repairing the corrupted data. Our approach achieved more accurate whole-brain tractography results with extended and complete FOV and reduced the uncertainty when analyzing bundles associated with Alzheimer's Disease., Comment: 20 pages, 11 figures
Published: 2024

23. Lewy body co‐pathology contributes to frontal lobe atrophy in Alzheimer’s disease and primary age‐related tauopathy

Author: Almeida, Francisco, primary, Oliveira, Tiago Gil, additional, Jesus, Tiago, additional, Coelho, Ana, additional, Quintas‐Neves, Miguel, additional, Gauthreaux, Kathryn, additional, Mock, Charles, additional, Kukull, Walter A., additional, and Crary, John F., additional
Published: 2023
Full Text: View/download PDF

24. 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
Full Text: View/download PDF

25. 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
Full Text: View/download PDF

26. 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
Full Text: View/download PDF

27. 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
Full Text: View/download PDF

28. Longitudinal Elastic Shape Analysis of Brain Subcortical Structures

Author: Wu, Yuexuan, primary, Zhang, Zhengwu, additional, Chan, Kwun Chuen Gary, additional, Shibata, Dean, additional, Kukull, Walter A., additional, Srivastava, Anuj, additional, and Zhu, Hongtu, additional
Published: 2023
Full Text: View/download PDF

29. 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
Full Text: View/download PDF

30. Pathologic Features of Asymptomatic Limbic‐Predominant Age‐Related TDP‐43 Encephalopathy Neuropathologic Change (LATE‐NC)

Author: Culhane, Jessica E., primary, Mock, Charles, additional, Chan, Kwun Chuen Gary, additional, Chen, Yen‐Chi, additional, and Kukull, Walter A., additional
Published: 2023
Full Text: View/download PDF

31. Genetic associations with neuropathological outcomes revealed a novel role in neuritic plaque formation

Author: Lin, Eugene, primary, Lerch, Melissa, additional, Chan, Kwun C, additional, Biber, Sarah, additional, and Kukull, Walter A., additional
Published: 2023
Full Text: View/download PDF

32. Ante‐mortem magnetic resonance imaging grey‐white matter contrast regional signatures of Alzheimer’s disease neuropathology

Author: Almeida, Francisco, primary, Coelho, Ana, additional, Quintas‐Neves, Miguel, additional, Teylan, Merilee A., additional, Mock, Charles, additional, Kukull, Walter A., additional, Crary, John F., additional, and Oliveira, Tiago Gil, additional
Published: 2023
Full Text: View/download PDF

33. 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
Full Text: View/download PDF

34. Topological Network Analysis of Beta‐Amyloid and Tau in Alzheimer’s Disease Using PET Imaging Data

Author: Wu, Yuexuan, primary, Ormsby, Kyle, additional, Shibata, Dean, additional, Chen, Yen‐Chi, additional, Biber, Sarah, additional, Kukull, Walter A., additional, and Chan, Kwun Chuen Gary, additional
Published: 2023
Full Text: View/download PDF

35. 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
Full Text: View/download PDF

36. 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
Full Text: View/download PDF

37. 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
Full Text: View/download PDF

38. A composite endpoint using version 3 of the Alzheimers’ Disease Research Centers’ neuropsychological test battery

Author: Chan, Kwun Chuen Gary, primary, Saykin, Andrew J., additional, Barnes, Lisa L., additional, Kukull, Walter A., additional, and Dodge, Hiroko H, additional
Published: 2023
Full Text: View/download PDF

39. Prescribing anti‐amyloid immunotherapies to treat Alzheimer's disease: Fully informing patient decisions

Author: Greenberg, Barry D., primary, Lemere, Cynthia A., additional, Barnes, Lisa L., additional, Hayden, Kathleen M., additional, Kukull, Walter A., additional, Oh, Esther S., additional, Snyder, Peter J., additional, Supiano, Mark, additional, and Dilworth‐Anderson, Peggye, additional
Published: 2023
Full Text: View/download PDF

40. Evaluation of the Electronic Clinical Dementia Rating for Dementia Screening

Author: Nosheny, Rachel L., primary, Yen, Daniel, additional, Howell, Taylor, additional, Camacho, Monica, additional, Moulder, Krista, additional, Gummadi, Shilpa, additional, Bui, Chau, additional, Kannan, Sandhya, additional, Ashford, Miriam T., additional, Knight, Kristen, additional, Mayo, Connie, additional, McMillan, Maureen, additional, Petersen, Ronald C., additional, Stricker, Nikki H., additional, Roberson, Erik D., additional, Chambless, Carol, additional, Gersteneker, Adam, additional, Martin, Roy, additional, Kennedy, Richard, additional, Zhang, Yue, additional, Kukull, Walter, additional, Flenniken, Derek, additional, Fockler, Juliet, additional, Truran, Diana, additional, Mackin, R. Scott, additional, Weiner, Michael W., additional, Morris, John C., additional, and Li, Yan, additional
Published: 2023
Full Text: View/download PDF

41. LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry

Author: Katsumata, Yuriko, primary, Fardo, David W, additional, Shade, Lincoln M P, additional, Bowen, James D, additional, Crane, Paul K, additional, Jarvik, Gail P, additional, Keene, C Dirk, additional, Larson, Eric B, additional, McCormick, Wayne C, additional, McCurry, Susan M, additional, Mukherjee, Shubhabrata, additional, Kowall, Neil W, additional, McKee, Ann C, additional, Honig, Robert A, additional, Lawrence, S, additional, Vonsattel, Jean Paul, additional, Williamson, Jennifer, additional, Small, Scott, additional, Burke, James R, additional, Hulette, Christine M, additional, Welsh-Bohmer, Kathleen A, additional, Gearing, Marla, additional, Lah, James J, additional, Levey, Allan I, additional, Wingo, Thomas S, additional, Apostolova, Liana G, additional, Farlow, Martin R, additional, Ghetti, Bernardino, additional, Saykin, Andrew J, additional, Spina, Salvatore, additional, Albert, Marilyn S, additional, Lyketsos, Constantine G, additional, Troncoso, Juan C, additional, Frosch, Matthew P, additional, Green, Robert C, additional, Growdon, John H, additional, Hyman, Bradley T, additional, Tanzi, Rudolph E, additional, Potter, Huntington, additional, Dickson, Dennis W, additional, Ertekin-Taner, Nilufer, additional, Graff-Radford, Neill R, additional, Parisi, Joseph E, additional, Petersen, Ronald C, additional, Duara, Ranjan, additional, Buxbaum, Joseph D, additional, Goate, Alison M, additional, Sano, Mary, additional, Masurkar, Arjun V, additional, Wisniewski, Thomas, additional, Bigio, Eileen H, additional, Mesulam, Marsel, additional, Weintraub, Sandra, additional, Vassar, Robert, additional, Kaye, Jeffrey A, additional, Quinn, Joseph F, additional, Woltjer, Randall L, additional, Barnes, Lisa L, additional, Bennett, David A, additional, Schneider, Julie A, additional, Yu, Lei, additional, Henderson, Victor, additional, Fallon, Kenneth B, additional, Harrell, Lindy E, additional, Marson, Daniel C, additional, Roberson, Erik D, additional, DeCarli, Charles, additional, Jin, Lee-Way, additional, Olichney, John M, additional, Kim, Ronald, additional, LaFerla, Frank M, additional, Monuki, Edwin, additional, Head, Elizabeth, additional, Sultzer, David, additional, Geschwind, Daniel H, additional, Vinters, Harry V, additional, Chesselet, Marie-Francoise, additional, Galasko, Douglas R, additional, Brewer, James B, additional, Boxer, Adam, additional, Karydas, Anna, additional, Kramer, Joel H, additional, Miller, Bruce L, additional, Rosen, Howard J, additional, Seeley, William W, additional, Burns, Jeffrey M, additional, Swerdlow, Russell H, additional, Abner, Erin, additional, Van Eldik, Linda J, additional, Albin, Roger L, additional, Lieberman, Andrew P, additional, Paulson, Henry L, additional, Arnold, Steven E, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Hamilton, Ronald L, additional, Kamboh, M Ilyas, additional, Lopez, Oscar L, additional, Becker, James T, additional, Cao, Chuanhai, additional, Raj, Ashok, additional, Smith, Amanda G, additional, Chui, Helena C, additional, Miller, Carol A, additional, Ringman, John M, additional, Schneider, Lon S, additional, Bird, Thomas D, additional, Sonnen, Joshua A, additional, Yu, Chang-En, additional, Grabowski, Thomas, additional, Peskind, Elaine, additional, Raskind, Murray, additional, Li, Ge, additional, Tsuang, Debby W, additional, Asthana, Sanjay, additional, Atwood, Craig S, additional, Carlsson, Cynthia M, additional, Sager, Mark A, additional, Chin, Nathaniel A, additional, Craft, Suzanne, additional, Cairns, Nigel J, additional, Morris, John C, additional, Cruchaga, Carlos, additional, Strittmatter, Stephen, additional, Reiman, Eric M, additional, Beach, Thomas G, additional, Huentelman, Matthew J, additional, Hardy, John, additional, Myers, Amanda J, additional, Kauwe, John S K, additional, Hakonarson, Hakon, additional, Blacker, Deborah, additional, Montine, Thomas J, additional, Baldwin, Clinton T, additional, Farrer, Lindsay A, additional, Jun, Gyungah, additional, Lunetta, Kathryn L, additional, Bush, William S, additional, Haines, Jonathan L, additional, Lerner, Alan J, additional, Zhou, Xiongwei, additional, Barral, Sandra, additional, Reitz, Christiane, additional, Vardarajan, Badri N, additional, Mayeux, Richard, additional, Beecham, Gary W, additional, Carney, Regina M, additional, Cuccaro, Michael L, additional, Gilbert, John R, additional, Hamilton-Nelson, Kara L, additional, Kunkle, Brian W, additional, Martin, Eden R, additional, Pericak-Vance, Margaret A, additional, Vance, Jeffery M, additional, Cantwell, Laura B, additional, Kuzma, Amanda P, additional, Malamon, John, additional, Naj, Adam C, additional, Qu, Liming, additional, Schellenberg, Gerard D, additional, Valladares, Otto, additional, Wang, Li-San, additional, Zhao, Yi, additional, Leverenz, James B, additional, De Jager, Philip L, additional, Evans, Denis A, additional, Katz, Mindy J, additional, Lipton, Richard B, additional, Boeve, Bradley F, additional, Allen, Mariet, additional, Carrasquillo, Minerva M, additional, Younkin, Steven G, additional, Kukull, Walter A, additional, Faber, Kelley M, additional, Foroud, Tatiana M, additional, Pavlik, Valory, additional, Massman, Paul, additional, Darby, Eveleen, additional, Rodriguear, Monica, additional, Khaleeq, Aisha, additional, Royall, Donald R, additional, Stevens, Alan, additional, Ory, Marcia, additional, DeToledo, John C, additional, Wilms, Henrick, additional, Johnson, Kim, additional, Perez, Victoria, additional, Hernandez, Michelle, additional, Wilhelmsen, Kirk C, additional, Tilson, Jeffrey, additional, Chasse, Scott, additional, Barber, Robert C, additional, Fairchild, Thomas J, additional, O’Bryant, Sid E, additional, Knebl, Janice, additional, Hall, James R, additional, Johnson, Leigh, additional, Mains, Douglas, additional, Alvarez, Lisa, additional, Gamboa, Adriana, additional, Paydarfar, David, additional, Bertelson, John, additional, Woon, Martin, additional, Ayres, Gayle, additional, Aguirre, Alyssa, additional, Palmer, Raymond, additional, Polk, Marsha, additional, Adams, Perrie M, additional, Huebinger, Ryan M, additional, Reisch, Joan S, additional, Rosenberg, Roger N, additional, Cullum, Munro, additional, Williams, Benjamin, additional, Quiceno, Mary, additional, Hynan, Linda, additional, Smith, Janet, additional, Davis, Barb, additional, Nguyen, Trung, additional, Rogaeva, Ekaterina, additional, George-Hyslop, Peter St, additional, and Nelson, Peter T, additional
Published: 2023
Full Text: View/download PDF

42. Different cohort, disparate results: Selection bias is a key factor in autopsy cohorts

Author: Gauthreaux, Kathryn, primary, Kukull, Walter A., additional, Nelson, Karin B., additional, Mock, Charles, additional, Chen, Yen‐Chi, additional, Chan, Kwun C. G., additional, Fardo, David W., additional, Katsumata, Yuriko, additional, Abner, Erin L., additional, and Nelson, Peter T., additional
Published: 2023
Full Text: View/download PDF

43. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifiesLRRC4C, LHX5-AS1and nominates ancestry-specific lociPTPRK,GRB14, andKIAA0825as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

Author: Rajabli, Farid, primary, Benchek, Penelope, additional, Tosto, Giuseppe, additional, Kushch, Nicholas, additional, Sha, Jin, additional, Bazemore, Katrina, additional, Zhu, Congcong, additional, Lee, Wan-Ping, additional, Haut, Jacob, additional, Hamilton-Nelson, Kara L., additional, Wheeler, Nicholas R., additional, Zhao, Yi, additional, Farrell, John J., additional, Grunin, Michelle A., additional, Leung, Yuk Yee, additional, Kuksa, Pavel P., additional, Li, Donghe, additional, Lucio da Fonseca, Eder, additional, Mez, Jesse B., additional, Palmer, Ellen L., additional, Pillai, Jagan, additional, Sherva, Richard M., additional, Song, Yeunjoo E., additional, Zhang, Xiaoling, additional, Iqbal, Taha, additional, Pathak, Omkar, additional, Valladares, Otto, additional, Kuzma, Amanda B., additional, Abner, Erin, additional, Adams, Perrie M., additional, Aguirre, Alyssa, additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Allen, Mariet, additional, Alvarez, Lisa, additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Ayres, Gayle, additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Benitez, Bruno A., additional, Bennett, David, additional, Bertelson, John, additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Brewer, James, additional, Burke, James R., additional, Burns, Jeffrey M., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Christopher S., additional, Carlsson, Cynthia M., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Chasse, Scott, additional, Chesselet, Marie-Francoise, additional, Chin, Nathaniel A., additional, Chui, Helena C., additional, Chung, Jaeyoon, additional, Craft, Suzanne, additional, Crane, Paul K., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, Cruchaga, Carlos, additional, Cuccaro, Michael L., additional, Cullum, Munro, additional, Darby, Eveleen, additional, Davis, Barbara, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, DeToledo, John, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Dombroski, Beth A., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, NIlüfer, additional, Evans, Denis A., additional, Faber, Kelley M., additional, Fairchild, Thomas J., additional, Fallon, Kenneth B., additional, Fardo, David W., additional, Farlow, Martin R., additional, Fernandez-Hernandez, Victoria, additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Fulton-Howard, Brian, additional, Galasko, Douglas R., additional, Gamboa, Adriana, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Grabowski, Thomas J., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hall, James, additional, Hamilton, Ronald L., additional, Harari, Oscar, additional, Hardy, John, additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Henderson, Victor W., additional, Hernandez, Michelle, additional, Hohman, Timothy, additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Hynan, Linda S., additional, Ibanez, Laura, additional, Jarvik, Gail P., additional, Jayadev, Suman, additional, Jin, Lee-Way, additional, Johnson, Kim, additional, Johnson, Leigh, additional, Kamboh, M. Ilyas, additional, Karydas, Anna M., additional, Katz, Mindy J., additional, Kauwe, John S., additional, Kaye, Jeffrey A., additional, Keene, C. Dirk, additional, Khaleeq, Aisha, additional, Kim, Ronald, additional, Knebl, Janice, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Lerner, Alan, additional, Leverenz, James B., additional, Levey, Allan I., additional, Lieberman, Andrew P., additional, Lipton, Richard B., additional, Logue, Mark, additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mains, Douglas, additional, Margaret, Flanagan E., additional, Marson, Daniel C., additional, Martin, Eden R R., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, Massman, Paul, additional, Masurkar, Arjun, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McDonough, Stefan, additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Monuki, Edwin S., additional, Morris, John C., additional, Mukherjee, Shubhabrata, additional, Myers, Amanda J., additional, Nguyen, Trung, additional, O’Bryant, Sid, additional, Olichney, John M., additional, Ory, Marcia, additional, Palmer, Raymond, additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Pavlik, Valory, additional, Paydarfar, David, additional, Perez, Victoria, additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Polk, Marsha, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Qu, Liming, additional, Quiceno, Mary, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Ringman, John M., additional, Roberson, Erik D., additional, Rodriguear, Monica, additional, Rogaeva, Ekaterina, additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Royall, Donald R., additional, Sager, Mark A., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., additional, Schneider, Lon S., additional, Seeley, William W., additional, Slifer, Susan H., additional, Small, Scott, additional, Smith, Amanda G., additional, Smith, Janet P., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Stevens, Alan B., additional, Strittmatter, Stephen M., additional, Sultzer, David, additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Tilson, Jeffrey L., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., additional, Van Deerlin, Vivianna M., additional, van Eldik, Linda J., additional, Vance, Jeffery M., additional, Vardarajan, Badri N., additional, Vassar, Robert, additional, Vinters, Harry V., additional, Vonsattel, Jean-Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Whitehead, Patrice L., additional, Wijsman, Ellen M., additional, Wilhelmsen, Kirk C., additional, Williams, Benjamin, additional, Williamson, Jennifer, additional, Wilms, Henrik, additional, Wingo, Thomas S., additional, Wisniewski, Thomas, additional, Woltjer, Randall L., additional, Woon, Martin, additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, Yu, Lei, additional, Zhu, Xiongwei, additional, Kunkle, Brian W., additional, Bush, William S., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Jun, Gyungah R., additional, Reitz, Christiane, additional, and Naj, Adam C., additional
Published: 2023
Full Text: View/download PDF

44. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author: Kaivola, Karri, primary, Chia, Ruth, additional, Ding, Jinhui, additional, Rasheed, Memoona, additional, Fujita, Masashi, additional, Menon, Vilas, additional, Walton, Ronald L., additional, Collins, Ryan L., additional, Billingsley, Kimberley, additional, Brand, Harrison, additional, Talkowski, Michael, additional, Zhao, Xuefang, additional, Dewan, Ramita, additional, Stark, Ali, additional, Ray, Anindita, additional, Solaiman, Sultana, additional, Alvarez Jerez, Pilar, additional, Malik, Laksh, additional, Dawson, Ted M., additional, Rosenthal, Liana S., additional, Albert, Marilyn S., additional, Pletnikova, Olga, additional, Troncoso, Juan C., additional, Masellis, Mario, additional, Keith, Julia, additional, Black, Sandra E., additional, Ferrucci, Luigi, additional, Resnick, Susan M., additional, Tanaka, Toshiko, additional, Topol, Eric, additional, Torkamani, Ali, additional, Tienari, Pentti, additional, Foroud, Tatiana M., additional, Ghetti, Bernardino, additional, Landers, John E., additional, Ryten, Mina, additional, Morris, Huw R., additional, Hardy, John A., additional, Mazzini, Letizia, additional, D'Alfonso, Sandra, additional, Moglia, Cristina, additional, Calvo, Andrea, additional, Serrano, Geidy E., additional, Beach, Thomas G., additional, Ferman, Tanis, additional, Graff-Radford, Neill R., additional, Boeve, Bradley F., additional, Wszolek, Zbigniew K., additional, Dickson, Dennis W., additional, Chiò, Adriano, additional, Bennett, David A., additional, De Jager, Philip L., additional, Ross, Owen A., additional, Dalgard, Clifton L., additional, Gibbs, J. Raphael, additional, Traynor, Bryan J., additional, Scholz, Sonja W., additional, Soltis, Anthony R., additional, Viollet, Coralie, additional, Sukumar, Gauthaman, additional, Alba, Camille, additional, Lott, Nathaniel, additional, McGrath Martinez, Elisa, additional, Tuck, Meila, additional, Singh, Jatinder, additional, Bacikova, Dagmar, additional, Zhang, Xijun, additional, Hupalo, Daniel N., additional, Adeleye, Adelani, additional, Wilkerson, Matthew D., additional, Pollard, Harvey B., additional, Gan-Or, Ziv, additional, Rogaeva, Ekaterina, additional, Brice, Alexis, additional, Lesage, Suzanne, additional, Xiromerisiou, Georgia, additional, Canosa, Antonio, additional, Chio, Adriano, additional, Logroscino, Giancarlo, additional, Mora, Gabriele, additional, Krüger, Reijko, additional, May, Patrick, additional, Alcolea, Daniel, additional, Clarimon, Jordi, additional, Fortea, Juan, additional, Gonzalez-Aramburu, Isabel, additional, Infante, Jon, additional, Lage, Carmen, additional, Lleó, Alberto, additional, Pastor, Pau, additional, Sanchez-Juan, Pascual, additional, Brett, Francesca, additional, Aarsland, Dag, additional, Al-Sarraj, Safa, additional, Attems, Johannes, additional, Gentleman, Steve, additional, Hodges, Angela K., additional, Love, Seth, additional, McKeith, Ian G., additional, Morris, Christopher M., additional, Palmer, Laura, additional, Pickering-Brown, Stuart, additional, Thomas, Alan J., additional, Troakes, Claire, additional, Barrett, Matthew J., additional, Bekris, Lynn M., additional, Faber, Kelley, additional, Flanagan, Margaret E., additional, Goate, Alison, additional, Goldstein, David S., additional, Kaufmann, Horacio, additional, Kukull, Walter A., additional, Leverenz, James B., additional, Lopez, Grisel, additional, Mao, Qinwen, additional, Masliah, Eliezer, additional, Monuki, Edwin, additional, Newell, Kathy L., additional, Palma, Jose-Alberto, additional, Perkins, Matthew, additional, Renton, Alan E., additional, Scherzer, Clemens R., additional, Shakkottai, Vikram G., additional, Sidransky, Ellen, additional, Tayebi, Nahid, additional, Woltjer, Randy, additional, Baloh, Robert H., additional, Bowser, Robert, additional, Broach, James, additional, Camu, William, additional, Cooper-Knock, John, additional, Drepper, Carsten, additional, Drory, Vivian E., additional, Dunckley, Travis L., additional, Feldman, Eva, additional, Fratta, Pietro, additional, Gerhard, Glenn, additional, Gibson, Summer B., additional, Glass, Jonathan D., additional, Harms, Matthew B., additional, Heiman-Patterson, Terry D., additional, Jansson, Lilja, additional, Kirby, Janine, additional, Kwan, Justin, additional, Laaksovirta, Hannu, additional, Landi, Francesco, additional, Le Ber, Isabelle, additional, Lumbroso, Serge, additional, MacGowan, Daniel J.L., additional, Maragakis, Nicholas J., additional, Mouzat, Kevin, additional, Myllykangas, Liisa, additional, Orrell, Richard W., additional, Ostrow, Lyle W., additional, Pamphlett, Roger, additional, Pioro, Erik, additional, Pulst, Stefan M., additional, Ravits, John M., additional, Robberecht, Wim, additional, Rothstein, Jeffrey D., additional, Sendtner, Michael, additional, Shaw, Pamela J., additional, Sidle, Katie C., additional, Simmons, Zachary, additional, Stein, Thor, additional, Stone, David J., additional, Tienari, Pentti J., additional, Valori, Miko, additional, Van Damme, Philip, additional, Van Deerlin, Vivianna M., additional, Van Den Bosch, Ludo, additional, and Zinman, Lorne, additional
Published: 2023
Full Text: View/download PDF

45. Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy

Author: Nakahara, Yasuo, primary, Mitsui, Jun, additional, Date, Hidetoshi, additional, Porto, Kristine Joyce, additional, Hayashi, Yasuhiro, additional, Yamashita, Atsushi, additional, Kusakabe, Yoshio, additional, Matsukawa, Takashi, additional, Ishiura, Hiroyuki, additional, Yasuda, Tsutomu, additional, Iwata, Atsushi, additional, Goto, Jun, additional, Ichikawa, Yaeko, additional, Momose, Yoshio, additional, Takahashi, Yuji, additional, Toda, Tatsushi, additional, Ohta, Rikifumi, additional, Yoshimura, Jun, additional, Morishita, Shinichi, additional, Gustavsson, Emil K, additional, Christy, Darren, additional, Maczis, Melissa, additional, Farrer, Matthew J., additional, Kim, Han-Joon, additional, Park, Sung-Sup, additional, Jeon, Beomseok, additional, Zhang, Jin, additional, Gu, Weihong, additional, Scholz, Sonja W., additional, Singleton, Andrew B., additional, Houlden, Henry, additional, Yabe, Ichiro, additional, Sasaki, Hidenao, additional, Matsushima, Masaaki, additional, Takashima, Hiroshi, additional, Kikuchi, Akio, additional, Aoki, Masashi, additional, Hara, Kenju, additional, Kakita, Akiyoshi, additional, Yamada, Mitsunori, additional, Takahashi, Hitoshi, additional, Onodera, Osamu, additional, Nishizawa, Masatoyo, additional, Watanabe, Hirohisa, additional, Ito, Mizuki, additional, Sobue, Gen, additional, Ishikawa, Kinya, additional, Mizusawa, Hidehiro, additional, Kanai, Kazuaki, additional, Kuwabara, Satoshi, additional, Arai, Kimihito, additional, Koyano, Shigeru, additional, Kuroiwa, Yoshiyuki, additional, Hasegawa, Kazuko, additional, Yuasa, Tatsuhiko, additional, Yasui, Kenichi, additional, Nakashima, Kenji, additional, Ito, Hijiri, additional, Izumi, Yuishin, additional, Kaji, Ryuji, additional, Kato, Takeo, additional, Kusunoki, Susumu, additional, Osaki, Yasushi, additional, Horiuchi, Masahiro, additional, Yamamoto, Ken, additional, Shimada, Mihoko, additional, Miyagawa, Taku, additional, Kawai, Yosuke, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Dürr, Alexandra, additional, Brice, Alexis, additional, Filla, Alessandro, additional, Klockgether, Thomas, additional, Wüllner, Ullrich, additional, Tanner, Caroline M., additional, Kukull, Walter A., additional, Lee, Virginia M.-Y., additional, Masliah, Eliezer, additional, Low, Phillip A., additional, Sandroni, Paola, additional, Ozelius, Laurie, additional, Foroud, Tatiana, additional, and Tsuji, Shoji, additional
Published: 2023
Full Text: View/download PDF

46. Identifying individuals with non‐Alzheimer's disease co‐pathologies: A precision medicine approach to clinical trials in sporadic Alzheimer's disease.

Author: Tosun, Duygu, Yardibi, Ozlem, Benzinger, Tammie L. S., Kukull, Walter A., Masters, Colin L., Perrin, Richard J., Weiner, Michael W., Simen, Arthur, and Schwarz, Adam J.
Abstract: INTRODUCTION: Biomarkers remain mostly unavailable for non‐Alzheimer's disease neuropathological changes (non‐ADNC) such as transactive response DNA‐binding protein 43 (TDP‐43) proteinopathy, Lewy body disease (LBD), and cerebral amyloid angiopathy (CAA). METHODS: A multilabel non‐ADNC classifier using magnetic resonance imaging (MRI) signatures was developed for TDP‐43, LBD, and CAA in an autopsy‐confirmed cohort (N = 214). RESULTS: A model using demographic, genetic, clinical, MRI, and ADNC variables (amyloid positive [Aβ+] and tau+) in autopsy‐confirmed participants showed accuracies of 84% for TDP‐43, 81% for LBD, and 81% to 93% for CAA, outperforming reference models without MRI and ADNC biomarkers. In an ADNI cohort (296 cognitively unimpaired, 401 mild cognitive impairment, 188 dementia), Aβ and tau explained 33% to 43% of variance in cognitive decline; imputed non‐ADNC explained an additional 16% to 26%. Accounting for non‐ADNC decreased the required sample size to detect a 30% effect on cognitive decline by up to 28%. DISCUSSION: Our results lead to a better understanding of the factors that influence cognitive decline and may lead to improvements in AD clinical trial design. [ABSTRACT FROM AUTHOR]
Published: 2024
Full Text: View/download PDF

47. Different cohort, disparate results: Selection bias is a key factor in autopsy cohorts.

Author: Gauthreaux, Kathryn, Kukull, Walter A., Nelson, Karin B., Mock, Charles, Chen, Yen‐Chi, Chan, Kwun C. G., Fardo, David W., Katsumata, Yuriko, Abner, Erin L., and Nelson, Peter T.
Abstract: INTRODUCTION: Research‐oriented autopsy cohorts provide critical insights into dementia pathobiology. However, different studies sometimes report disparate findings, partially because each study has its own recruitment biases. We hypothesized that a straightforward metric, related to the percentage of research volunteers cognitively normal at recruitment, would predict other inter‐cohort differences. METHODS: The National Alzheimer's Coordinating Center (NACC) provided data on N = 7178 autopsied participants from 28 individual research centers. Research cohorts were grouped based on the proportion of participants with normal cognition at initial clinical visit. RESULTS: Cohorts with more participants who were cognitively normal at recruitment contained more individuals who were older, female, had lower frequencies of apolipoprotein E ε4, Lewy body disease, and frontotemporal dementia, but higher rates of cerebrovascular disease. Alzheimer's disease (AD) pathology was little different between groups. DISCUSSION: The percentage of participants recruited while cognitively normal predicted differences in findings in autopsy research cohorts. Most differences were in non‐AD pathologies. Highlights: Systematic differences exist between autopsy cohorts that serve dementia research.We propose a metric to use for gauging a research‐oriented autopsy cohort.It is essential to consider the characteristics of autopsy cohorts. [ABSTRACT FROM AUTHOR]
Published: 2024
Full Text: View/download PDF

48. Genetic predictors of multiple cognitive domains within ancestry groups in older adults.

Author: Walters, Skylar, Eissman, Jaclyn M., Mukherjee, Shubhabrata, Lee, Michael L., Choi, Seo‐Eun, Scollard, Phoebe, Trittschuh, Emily H., Mez, Jesse B., Bush, William S., Kunkle, Brian W., Naj, Adam C., Gifford, Katherine A., Cuccaro, Michael L., Cruchaga, Carlos, Pericak‐Vance, Margaret A, Farrer, Lindsay A., Wang, Li‐San, Haines, Jonathan L., Jefferson, Angela L., and Kukull, Walter A.
Abstract: Background: Alzheimer's disease (AD) is clinically characterized by disabling cognitive impairment, though substantial variability in cognitive symptoms and trajectories is observed in AD individuals. However, genetic predictors of domain‐specific cognitive performance remain undiscovered. We investigated cross‐sectional and longitudinal genetic architecture of harmonized memory, executive function, and language scores within and across ancestry groups. Method: Using data from 7 cohorts of cognitive aging and AD, individuals >60 years at baseline were included (mean age at baseline = 71.2). Cognitive scores for memory, executive function, and language were harmonized using latent variable models. Slopes for cognitive scores were calculated for each domain with linear mixed‐effects models. GWAS was performed on each cognitive domain for individual cohorts, both at baseline and longitudinally. Models covaried for baseline age, sex, and the first three genetic principal components. Individual models were assessed among non‐Hispanic Whites (NHW) (N = 26,455), non‐Hispanic Blacks (NHB) (N = 3,410), and cross‐ancestry (NHW + NHB) (N = 29,865). Results were meta‐analyzed across cohorts. Result: We identified six genetic loci showing a genome‐wide significant effect on cognition, in addition to well‐established associations between cognition and APOE: three loci in NHW, one locus in NHB, and two loci in cross‐ancestry results. In NHW, a chromosome 2 locus (rs6733839) near BIN1, a previously reported AD risk gene, was associated with longitudinal memory performance (MAF = 0.40, p = 3.36E‐08). Additionally, in NHW, two chromosome 2 loci (rs2940785 and rs2972059) were associated with memory decline (MAF = 0.05, = 3.92E‐09; MAF = 0.05, p = 5.06E‐09, respectively). Despite the small sample size, a chromosome 10 locus (rs77595416) was associated with longitudinal executive function in NHB (MAF = 0.01, p = 7.68E‐09). When analyzing cross‐ancestry results, two chromosome 2 loci near BIN1 (rs4663105 and rs6733839) were associated with memory decline (MAF = 0.44, p = 2.65E‐08; MAF = 0.40, p = 9.48E‐10, respectively). Conclusion: We elucidate novel and replicate known genetic predictors of domain‐specific cognition in older adults. Furthermore, we show that genetic architecture of multiple cognitive domains in older adults differs by ancestry, highlighting SNPs observed in longitudinal memory (NHW and cross‐ancestry) and executive function (NHB). While replication is warranted, our results underscore the contribution of genetic predictors beyond APOE to cognitive decline and suggest the importance of ancestry‐specific analyses of cognition. [ABSTRACT FROM AUTHOR]
Published: 2023
Full Text: View/download PDF

49. Pathogenic variants in the Longitudinal Early‐onset Alzheimer's Disease Study cohort.

Author: Nudelman, Kelly N. H., Jackson, Trever, Rumbaugh, Malia, Eloyan, Ani, Abreu, Marco, Dage, Jeffrey L., Snoddy, Casey, Faber, Kelley M., Foroud, Tatiana, Hammers, Dustin B., Taurone, Alexander, Thangarajah, Maryanne, Aisen, Paul, Beckett, Laurel, Kramer, Joel, Koeppe, Robert, Kukull, Walter A., Murray, Melissa E., Toga, Arthur W., and Vemuri, Prashanthi
Abstract: Introduction: One goal of the Longitudinal Early‐onset Alzheimer's Disease Study (LEADS) is to investigate the genetic etiology of early onset (40–64 years) cognitive impairment. Toward this goal, LEADS participants are screened for known pathogenic variants. Methods: LEADS amyloid‐positive early‐onset Alzheimer's disease (EOAD) or negative early‐onset non‐AD (EOnonAD) cases were whole exome sequenced (N = 299). Pathogenic variant frequency in APP, PSEN1, PSEN2, GRN, MAPT, and C9ORF72 was assessed for EOAD and EOnonAD. Gene burden testing was performed in cases compared to similar‐age cognitively normal controls in the Parkinson's Progression Markers Initiative (PPMI) study. Results: Previously reported pathogenic variants in the six genes were identified in 1.35% of EOAD (3/223) and 6.58% of EOnonAD (5/76). No genes showed enrichment for carriers of rare functional variants in LEADS cases. Discussion: Results suggest that LEADS is enriched for novel genetic causative variants, as previously reported variants are not observed in most cases. Highlights: Sequencing identified eight cognitively impaired pathogenic variant carriers.Pathogenic variants were identified in PSEN1, GRN, MAPT, and C9ORF72.Rare variants were not enriched in APP, PSEN1/2, GRN, and MAPT.The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS) is a key resource for early‐onset Alzheimer's genetic research [ABSTRACT FROM AUTHOR]
Published: 2023
Full Text: View/download PDF

50. The Sporadic Early‐onset Alzheimer's Disease Signature Of Atrophy: Preliminary Findings From The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS) Cohort.

Author: Touroutoglou, Alexandra, Katsumi, Yuta, Brickhouse, Michael, Zaitsev, Alexander, Eckbo, Ryan, Aisen, Paul, Beckett, Laurel, Dage, Jeffrey L., Eloyan, Ani, Foroud, Tatiana, Ghetti, Bernardino, Griffin, Percy, Hammers, Dustin, Jack, Clifford R., Kramer, Joel H., Iaccarino, Leonardo, Joie, Renaud La, Mundada, Nidhi S, Koeppe, Robert, and Kukull, Walter A.
Abstract: INTRODUCTION: Magnetic resonance imaging (MRI) research has advanced our understanding of neurodegeneration in sporadic early‐onset Alzheimer's disease (EOAD) but studies include small samples, mostly amnestic EOAD, and have not focused on developing an MRI biomarker. METHODS: We analyzed MRI scans to define the sporadic EOAD‐signature atrophy in a small sample (n = 25) of Massachusetts General Hospital (MGH) EOAD patients, investigated its reproducibility in the large longitudinal early‐onset Alzheimer's disease study (LEADS) sample (n = 211), and investigated the relationship of the magnitude of atrophy with cognitive impairment. RESULTS: The EOAD‐signature atrophy was replicated across the two cohorts, with prominent atrophy in the caudal lateral temporal cortex, inferior parietal lobule, and posterior cingulate and precuneus cortices, and with relative sparing of the medial temporal lobe. The magnitude of EOAD‐signature atrophy was associated with the severity of cognitive impairment. DISCUSSION: The EOAD‐signature atrophy is a reliable and clinically valid biomarker of AD‐related neurodegeneration that could be used in clinical trials for EOAD. Highlights: We developed an early‐onset Alzheimer's disease (EOAD)–signature of atrophy based on magnetic resonance imaging (MRI) scans.EOAD signature was robustly reproducible across two independent patient cohorts.EOAD signature included prominent atrophy in parietal and posterior temporal cortex.The EOAD‐signature atrophy was associated with the severity of cognitive impairment.EOAD signature is a reliable and clinically valid biomarker of neurodegeneration. [ABSTRACT FROM AUTHOR]
Published: 2023
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

266 results on '"Kukull, Walter A."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources