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3. Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression

Author

Mollenhauer, Brit, Dakna, Mohammed, Kruse, Niels, Galasko, Douglas, Foroud, Tatiana, Zetterberg, Henrik, Schade, Sebastian, Gera, Roland G, Wang, Wenting, Gao, Feng, Frasier, Mark, Chahine, Lana M, Coffey, Christopher S, Singleton, Andrew B, Simuni, Tanya, Weintraub, Daniel, Seibyl, John, Toga, Arthur W, Tanner, Caroline M, Kieburtz, Karl, Marek, Kenneth, Siderowf, Andrew, Cedarbaum, Jesse M, Hutten, Samantha J, Trenkwalder, Claudia, and Graham, Danielle

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Parkinson's Disease, Neurosciences, Clinical Research, Aging, Prevention, Brain Disorders, Neurodegenerative, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Neurological, Biomarkers, Cohort Studies, Disease Progression, Humans, Intermediate Filaments, Parkinson Disease, Parkinson's disease, parkinsonism, cohort studies, outcome research, Parkinson's disease/parkinsonism, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundThe objective of this study was to assess neurofilament light chain as a Parkinson's disease biomarker.MethodsWe quantified neurofilament light chain in 2 independent cohorts: (1) longitudinal cerebrospinal fluid samples from the longitudinal de novo Parkinson's disease cohort and (2) a large longitudinal cohort with serum samples from Parkinson's disease, other cognate/neurodegenerative disorders, healthy controls, prodromal conditions, and mutation carriers.ResultsIn the Parkinson's Progression Marker Initiative cohort, mean baseline serum neurofilament light chain was higher in Parkinson's disease patients (13 ± 7.2 pg/mL) than in controls (12 ± 6.7 pg/mL), P = 0.0336. Serum neurofilament light chain increased longitudinally in Parkinson's disease patients versus controls (P

Published
2020

6. Validity of the Short Weekly Calendar Planning Activity in patients with Parkinson disease and nonmanifesting LRRK2 and GBA carriers

Author

Schejter‐Margalit, Tamara, primary, Binyamin, Noam Ben, additional, Thaler, Avner, additional, Maidan, Inbal, additional, Cedarbaum, Jesse M., additional, Orr‐Urtreger, Avi, additional, Gana Weisz, Mali, additional, Goldstein, Orly, additional, Giladi, Nir, additional, Mirelman, Anat, additional, and Kizony, Rachel, additional

Published
2024
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7. Cinpanemab in Early Parkinson Disease

Author

Hutchison, R. Matthew, primary, Fraser, Kyle, additional, Yang, Minhua, additional, Fox, Tara, additional, Hirschhorn, Elizabeth, additional, Njingti, Edwin, additional, Scott, David, additional, Bedell, Barry J., additional, Kistner, Kristi M., additional, Cedarbaum, Jesse M., additional, Evans, Karleyton C., additional, Graham, Danielle, additional, Martarello, Laurent, additional, Mollenhauer, Brit, additional, Lang, Anthony E., additional, Dam, Tien, additional, and Beaver, John, additional

Published
2024
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8. Seeking progress in disease modification in Parkinson disease

Author

Lungu, Codrin, Cedarbaum, Jesse M., Dawson, Ted M., Dorsey, E. Ray, Faraco, Carlos, Federoff, Howard J., Fiske, Brian, Fox, Robert, Goldfine, Andrew M., Kieburtz, Karl, Macklin, Eric A., Matthews, Helen, Rafaloff, Gary, Saunders-Pullman, Rachel, Schor, Nina F., Schwarzschild, Michael A., Sieber, Beth-Anne, Simuni, Tanya, Surmeier, Dalton J., Tamiz, Amir, Werner, Milton H., Wright, Clinton B., and Wyse, Richard

Published
2021
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10. The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials

Author

Projectafdeling ALS, Brain, ALS Trial team, Neurologen, Genge, Angela, Cedarbaum, Jesse M., Shefner, Jeremy, Chio, Adriano, Al-Chalabi, Ammar, Van Damme, Philip, McDermott, Chris, Glass, Jonathan, Berry, James, van Eijk, Ruben P.A., Fournier, Christina, Grosskreutz, Julian, Andrews, Jinsy, Bertone, Vanessa, Bunte, Tommy M., Couillard, Mathias, Cummings, Cathy, Kittle, Gale, Polzer, John, Salmon, Kristiana, Straub, Corey, van den Berg, Leonard H., Projectafdeling ALS, Brain, ALS Trial team, Neurologen, Genge, Angela, Cedarbaum, Jesse M., Shefner, Jeremy, Chio, Adriano, Al-Chalabi, Ammar, Van Damme, Philip, McDermott, Chris, Glass, Jonathan, Berry, James, van Eijk, Ruben P.A., Fournier, Christina, Grosskreutz, Julian, Andrews, Jinsy, Bertone, Vanessa, Bunte, Tommy M., Couillard, Mathias, Cummings, Cathy, Kittle, Gale, Polzer, John, Salmon, Kristiana, Straub, Corey, and van den Berg, Leonard H.

Published
2024

12. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Author

Arnedo, Vanessa, Clark, Adrienne, Fraiser, Mark, Kopil, Catherine, Chowdhury, Sohini, Sherer, Todd, Daegele, Nichole, Casaceli, Cynthia, Dorsey, Ray, Wilson, Renee, Mahes, Sugi, Salerno, Christina, Crawford, Karen, Casalin, Paola, Malferrari, Giulia, Weisz, Mali Gani, Orr-Urtreger, Avi, Montine, Thomas, Baglieri, Chris, Christini, Amanda, Russell, David, Dahodwala, Nabila, Giladi, Nir, Factor, Stewart, Hogarth, Penelope, Standaert, David, Hauser, Robert, Jankovic, Joseph, Saint-Hilaire, Marie, Richard, Irene, Shprecher, David, Fernandez, Hubert, Brockmann, Katrina, Rosenthal, Liana, Barone, Paolo, Espay, Alberto, Rowe, Dominic, Marder, Karen, Santiago, Anthony, Hu, Shu-Ching, Isaacson, Stuart, Corvol, Jean-Christophe, Ruiz Martinez, Javiar, Tolosa, Eduardo, Tai, Yen, Politis, Marios, Smejdir, Debra, Rees, Linda, Williams, Karen, Kausar, Farah, Richardson, Whitney, Willeke, Diana, Peacock, Shawnees, Sommerfeld, Barbara, Freed, Alison, Wakeman, Katrina, Blair, Courtney, Guthrie, Stephanie, Harrell, Leigh, Hunter, Christine, Thomas, Cathi-Ann, James, Raymond, Zimmerman, Grace, Brown, Victoria, Mule, Jennifer, Hilt, Ella, Ribb, Kori, Ainscough, Susan, Wethington, Misty, Ranola, Madelaine, Mejia Santana, Helen, Moreno, Juliana, Raymond, Deborah, Speketer, Krista, Carvajal, Lisbeth, Carvalo, Stephanie, Croitoru, Ioana, Garrido, Alicia, Payne, Laura Marie, Viswanth, Veena, Severt, Lawrence, Facheris, Maurizio, Soares, Holly, Mintun, Mark A., Cedarbaum, Jesse, Taylor, Peggy, Biglan, Kevin, Vandenbroucke, Emily, Haider Sheikh, Zulfiqar, Bingol, Baris, Fischer, Tanya, Sardi, Pablo, Forrat, Remi, Reith, Alastair, Egebjerg, Jan, Ahlberg Hillert, Gabrielle, Saba, Barbara, Min, Chris, Umek, Robert, Mather, Joe, De Santi, Susan, Post, Anke, Boess, Frank, Taylor, Kirsten, Grachev, Igor, Avbersek, Andreja, Muglia, Pierandrea, Merchant, Kaplana, Tauscher, Johannes, Simuni, Tanya, Uribe, Liz, Cho, Hyunkeun Ryan, Caspell-Garcia, Chelsea, Coffey, Christopher S, Siderowf, Andrew, Trojanowski, John Q, Shaw, Leslie M, Seibyl, John, Singleton, Andrew, Toga, Arthur W, Galasko, Doug, Foroud, Tatiana, Tosun, Duygu, Poston, Kathleen, Weintraub, Daniel, Mollenhauer, Brit, Tanner, Caroline M, Kieburtz, Karl, Chahine, Lana M, Reimer, Alyssa, Hutten, Samantha J, Bressman, Susan, and Marek, Kenneth

Published
2020
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14. Targeting Prodromal Alzheimer Disease With Avagacestat: A Randomized Clinical Trial

Author

Coric, Vladimir, Salloway, Stephen, van Dyck, Christopher H, Dubois, Bruno, Andreasen, Niels, Brody, Mark, Curtis, Craig, Soininen, Hilkka, Thein, Stephen, Shiovitz, Thomas, Pilcher, Gary, Ferris, Steven, Colby, Susan, Kerselaers, Wendy, Dockens, Randy, Soares, Holly, Kaplita, Stephen, Luo, Feng, Pachai, Chahin, Bracoud, Luc, Mintun, Mark, Grill, Joshua D, Marek, Ken, Seibyl, John, Cedarbaum, Jesse M, Albright, Charles, Feldman, Howard H, and Berman, Robert M

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Neurodegenerative, Aging, Acquired Cognitive Impairment, Clinical Trials and Supportive Activities, Dementia, Clinical Research, Cancer, Prevention, Alzheimer's Disease, Evaluation of treatments and therapeutic interventions, 4.2 Evaluation of markers and technologies, 6.1 Pharmaceuticals, Detection, screening and diagnosis, Neurological, Aged, Aged, 80 and over, Alzheimer Disease, Atrophy, Cognitive Dysfunction, Disease Progression, Female, Humans, Male, Oxadiazoles, Prodromal Symptoms, Radionuclide Imaging, Skin Neoplasms, Sulfonamides, Treatment Failure, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ImportanceEarly identification of Alzheimer disease (AD) is important for clinical management and affords the opportunity to assess potential disease-modifying agents in clinical trials. To our knowledge, this is the first report of a randomized trial to prospectively enrich a study population with prodromal AD (PDAD) defined by cerebrospinal fluid (CSF) biomarker criteria and mild cognitive impairment (MCI) symptoms.ObjectivesTo assess the safety of the γ-secretase inhibitor avagacestat in PDAD and to determine whether CSF biomarkers can identify this patient population prior to clinical diagnosis of dementia.Design, setting, and participantsA randomized, placebo-controlled phase 2 clinical trial with a parallel, untreated, nonrandomized observational cohort of CSF biomarker-negative participants was conducted May 26, 2009, to July 9, 2013, in a multicenter global population. Of 1358 outpatients screened, 263 met MCI and CSF biomarker criteria for randomization into the treatment phase. One hundred two observational cohort participants who met MCI criteria but were CSF biomarker-negative were observed during the same study period to evaluate biomarker assay sensitivity.InterventionsOral avagacestat or placebo daily.Main outcomes and measureSafety and tolerability of avagacestat.ResultsOf the 263 participants in the treatment phase, 132 were randomized to avagacestat and 131 to placebo; an additional 102 participants were observed in an untreated observational cohort. Avagacestat was relatively well tolerated with low discontinuation rates (19.6%) at a dose of 50 mg/d, whereas the dose of 125 mg/d had higher discontinuation rates (43%), primarily attributable to gastrointestinal tract adverse events. Increases in nonmelanoma skin cancer and nonprogressive, reversible renal tubule effects were observed with avagacestat. Serious adverse event rates were higher with avagacestat (49 participants [37.1%]) vs placebo (31 [23.7%]), attributable to the higher incidence of nonmelanoma skin cancer. At 2 years, progression to dementia was more frequent in the PDAD cohort (30.7%) vs the observational cohort (6.5%). Brain atrophy rate in PDAD participants was approximately double that of the observational cohort. Concordance between abnormal amyloid burden on positron emission tomography and pathologic CSF was approximately 87% (κ = 0.68; 95% CI, 0.48-0.87). No significant treatment differences were observed in the avagacestat vs placebo arm in key clinical outcome measures.Conclusions and relevanceAvagacestat did not demonstrate efficacy and was associated with adverse dose-limiting effects. This PDAD population receiving avagacestat or placebo had higher rates of clinical progression to dementia and greater brain atrophy compared with CSF biomarker-negative participants. The CSF biomarkers and amyloid positron emission tomography imaging were correlated, suggesting that either modality could be used to confirm the presence of cerebral amyloidopathy and identify PDAD.Trial registrationclinicaltrials.gov Identifier: NCT00890890.

Published
2015

15. Impact of the Alzheimer's Disease Neuroimaging Initiative, 2004 to 2014

Author

Weiner, Michael W, Veitch, Dallas P, Aisen, Paul S, Beckett, Laurel A, Cairns, Nigel J, Cedarbaum, Jesse, Donohue, Michael C, Green, Robert C, Harvey, Danielle, Jack, Clifford R, Jagust, William, Morris, John C, Petersen, Ronald C, Saykin, Andrew J, Shaw, Leslie, Thompson, Paul M, Toga, Arthur W, Trojanowski, John Q, and Initiative, Alzheimer's Disease Neuroimaging

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Prevention, Dementia, Clinical Research, Aging, Acquired Cognitive Impairment, Brain Disorders, Alzheimer's Disease, Clinical Trials and Supportive Activities, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Neurological, Alzheimer Disease, Biomarkers, Clinical Trials as Topic, Databases, Bibliographic, Disease Progression, Humans, Longitudinal Studies, Neuroimaging, Alzheimer's disease, Data-sharing, Amyloid phenotyping, Clinical trial biomarkers, Tau imaging, AD biomarker signature, Worldwide ADNI, Alzheimer's Disease Neuroimaging Initiative, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionThe Alzheimer's Disease Neuroimaging Initiative (ADNI) was established in 2004 to facilitate the development of effective treatments for Alzheimer's disease (AD) by validating biomarkers for AD clinical trials.MethodsWe searched for ADNI publications using established methods.ResultsADNI has (1) developed standardized biomarkers for use in clinical trial subject selection and as surrogate outcome measures; (2) standardized protocols for use across multiple centers; (3) initiated worldwide ADNI; (4) inspired initiatives investigating traumatic brain injury and post-traumatic stress disorder in military populations, and depression, respectively, as an AD risk factor; (5) acted as a data-sharing model; (6) generated data used in over 600 publications, leading to the identification of novel AD risk alleles, and an understanding of the relationship between biomarkers and AD progression; and (7) inspired other public-private partnerships developing biomarkers for Parkinson's disease and multiple sclerosis.DiscussionADNI has made myriad impacts in its first decade. A competitive renewal of the project in 2015 would see the use of newly developed tau imaging ligands, and the continued development of recruitment strategies and outcome measures for clinical trials.

Published
2015

16. 2014 Update of the Alzheimer's Disease Neuroimaging Initiative: A review of papers published since its inception

Author

Weiner, Michael W, Veitch, Dallas P, Aisen, Paul S, Beckett, Laurel A, Cairns, Nigel J, Cedarbaum, Jesse, Green, Robert C, Harvey, Danielle, Jack, Clifford R, Jagust, William, Luthman, Johan, Morris, John C, Petersen, Ronald C, Saykin, Andrew J, Shaw, Leslie, Shen, Li, Schwarz, Adam, Toga, Arthur W, Trojanowski, John Q, and Initiative, Alzheimer's Disease Neuroimaging

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Clinical Research, Clinical Trials and Supportive Activities, Biomedical Imaging, Neurosciences, Dementia, Prevention, Alzheimer's Disease, Aging, Neurodegenerative, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, 2.1 Biological and endogenous factors, Neurological, Alzheimer Disease, Biomarkers, Brain, Early Diagnosis, Humans, Multicenter Studies as Topic, Nootropic Agents, Radionuclide Imaging, Alzheimer's Disease Neuroimaging Initiative, Alzheimer's disease, Amyloid, Biomarker, Mild cognitive impairment, Tau, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

The Alzheimer's Disease Neuroimaging Initiative (ADNI) is an ongoing, longitudinal, multicenter study designed to develop clinical, imaging, genetic, and biochemical biomarkers for the early detection and tracking of Alzheimer's disease (AD). The initial study, ADNI-1, enrolled 400 subjects with early mild cognitive impairment (MCI), 200 with early AD, and 200 cognitively normal elderly controls. ADNI-1 was extended by a 2-year Grand Opportunities grant in 2009 and by a competitive renewal, ADNI-2, which enrolled an additional 550 participants and will run until 2015. This article reviews all papers published since the inception of the initiative and summarizes the results to the end of 2013. The major accomplishments of ADNI have been as follows: (1) the development of standardized methods for clinical tests, magnetic resonance imaging (MRI), positron emission tomography (PET), and cerebrospinal fluid (CSF) biomarkers in a multicenter setting; (2) elucidation of the patterns and rates of change of imaging and CSF biomarker measurements in control subjects, MCI patients, and AD patients. CSF biomarkers are largely consistent with disease trajectories predicted by β-amyloid cascade (Hardy, J Alzheimer's Dis 2006;9(Suppl 3):151-3) and tau-mediated neurodegeneration hypotheses for AD, whereas brain atrophy and hypometabolism levels show predicted patterns but exhibit differing rates of change depending on region and disease severity; (3) the assessment of alternative methods of diagnostic categorization. Currently, the best classifiers select and combine optimum features from multiple modalities, including MRI, [(18)F]-fluorodeoxyglucose-PET, amyloid PET, CSF biomarkers, and clinical tests; (4) the development of blood biomarkers for AD as potentially noninvasive and low-cost alternatives to CSF biomarkers for AD diagnosis and the assessment of α-syn as an additional biomarker; (5) the development of methods for the early detection of AD. CSF biomarkers, β-amyloid 42 and tau, as well as amyloid PET may reflect the earliest steps in AD pathology in mildly symptomatic or even nonsymptomatic subjects and are leading candidates for the detection of AD in its preclinical stages; (6) the improvement of clinical trial efficiency through the identification of subjects most likely to undergo imminent future clinical decline and the use of more sensitive outcome measures to reduce sample sizes. Multimodal methods incorporating APOE status and longitudinal MRI proved most highly predictive of future decline. Refinements of clinical tests used as outcome measures such as clinical dementia rating-sum of boxes further reduced sample sizes; (7) the pioneering of genome-wide association studies that leverage quantitative imaging and biomarker phenotypes, including longitudinal data, to confirm recently identified loci, CR1, CLU, and PICALM and to identify novel AD risk loci; (8) worldwide impact through the establishment of ADNI-like programs in Japan, Australia, Argentina, Taiwan, China, Korea, Europe, and Italy; (9) understanding the biology and pathobiology of normal aging, MCI, and AD through integration of ADNI biomarker and clinical data to stimulate research that will resolve controversies about competing hypotheses on the etiopathogenesis of AD, thereby advancing efforts to find disease-modifying drugs for AD; and (10) the establishment of infrastructure to allow sharing of all raw and processed data without embargo to interested scientific investigators throughout the world.

Published
2015

17. The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials.

Author

Genge, Angela, Cedarbaum, Jesse M., Shefner, Jeremy, Chio, Adriano, Al-Chalabi, Ammar, Van Damme, Philip, McDermott, Chris, Glass, Jonathan, Berry, James, van Eijk, Ruben P.A., Fournier, Christina, Grosskreutz, Julian, Andrews, Jinsy, Bertone, Vanessa, Bunte, Tommy M, Couillard, Mathias, Cummings, Cathy, Kittle, Gale, Polzer, John, and Salmon, Kristiana

Subjects
*CLINICAL trials, *AMYOTROPHIC lateral sclerosis, *EXPERIMENTAL design
Abstract

The Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was developed more than 25 years ago as an instrument to monitor functional change over time in patients with ALS. It has since been revised and extended to meet the needs of high data quality in ALS trials (ALSFRS-R), however a full re-validation of the scale was not completed. Despite this, the scale has remained a primary outcome measure in clinical trials. We convened a group of clinical trialists to discuss and explore opportunities to improve the scale and propose alternative measures. In this meeting report, we present a call to action on the use of the ALSFRS-Revised scale in clinical trials, focusing on the need for (1) harmonization of the ALSFRS-R administration globally, (2) alignment on a set of recommendations for clinical trial design and statistical analysis plans (SAPs), and (3) use of additional outcome measures. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Relative Meaningfulness and Impacts of Symptoms in People with Early-Stage Parkinson’s Disease

Author

Mammen, Jennifer R., primary, Speck, Rebecca M., additional, Stebbins, Glenn T., additional, Müller, Martijn L.T.M., additional, Yang, Phillip T., additional, Campbell, Michelle, additional, Cosman, Josh, additional, Crawford, John E., additional, Dam, Tien, additional, Hellsten, Johan, additional, Jensen-Roberts, Stella, additional, Kostrzebski, Melissa, additional, Simuni, Tanya, additional, Barowicz, Kimberly Ward, additional, Cedarbaum, Jesse M., additional, Dorsey, E. Ray, additional, Stephenson, Diane, additional, and Adams, Jamie L., additional

Published
2023
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21. Digital Mobility Measures: A Window into Real‐World Severity and Progression of Parkinson's Disease.

Author

Mirelman, Anat, Volkov, Jana, Salomon, Amit, Gazit, Eran, Nieuwboer, Alice, Rochester, Lynn, Del Din, Silvia, Avanzino, Laura, Pelosin, Elisa, Bloem, Bastiaan R., Della Croce, Ugo, Cereatti, Andrea, Thaler, Avner, Roggen, Daniel, Mazza, Claudia, Shirvan, Julia, Cedarbaum, Jesse M., Giladi, Nir, and Hausdorff, Jeffrey M.

Abstract

Background: Real‐world monitoring using wearable sensors has enormous potential for assessing disease severity and symptoms among persons with Parkinson's disease (PD). Many distinct features can be extracted, reflecting multiple mobility domains. However, it is unclear which digital measures are related to PD severity and are sensitive to disease progression. Objectives: The aim was to identify real‐world mobility measures that reflect PD severity and show discriminant ability and sensitivity to disease progression, compared to the Movement Disorder Society‐Unified Parkinson's Disease Rating Scale (MDS‐UPDRS) scale. Methods: Multicenter real‐world continuous (24/7) digital mobility data from 587 persons with PD and 68 matched healthy controls were collected using an accelerometer adhered to the lower back. Machine learning feature selection and regression algorithms evaluated associations of the digital measures using the MDS‐UPDRS (I–III). Binary logistic regression assessed discriminatory value using controls, and longitudinal observational data from a subgroup (n = 33) evaluated sensitivity to change over time. Results: Digital measures were only moderately correlated with the MDS‐UPDRS (part II‐r = 0.60 and parts I and III‐r = 0.50). Most associated measures reflected activity quantity and distribution patterns. A model with 14 digital measures accurately distinguished recently diagnosed persons with PD from healthy controls (81.1%, area under the curve: 0.87); digital measures showed larger effect sizes (Cohen's d: [0.19–0.66]), for change over time than any of the MDS‐UPDRS parts (Cohen's d: [0.04–0.12]). Conclusions: Real‐world mobility measures are moderately associated with clinical assessments, suggesting that they capture different aspects of motor capacity and function. Digital mobility measures are sensitive to early‐stage disease and to disease progression, to a larger degree than conventional clinical assessments, demonstrating their utility, primarily for clinical trials but ultimately also for clinical care. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Mapping Relevance of Digital Measures to Meaningful Symptoms and Impacts in Early Parkinson’s Disease

Author

Mammen, Jennifer R., primary, Speck, Rebecca M., additional, Stebbins, Glenn M., additional, Müller, Martijn L.T.M., additional, Yang, Phillip T., additional, Campbell, Michelle, additional, Cosman, Josh, additional, Crawford, John E., additional, Dam, Tien, additional, Hellsten, Johan, additional, Jensen-Roberts, Stella, additional, Kostrzebski, Melissa, additional, Simuni, Tanya, additional, Barowicz, Kimberly Ward, additional, Cedarbaum, Jesse M., additional, Dorsey, E. Ray, additional, Stephenson, Diane, additional, and Adams, Jamie L., additional

Published
2023
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23. The influence of GBA and LRRK2 on mood disorders in Parkinson's Disease

Author

DeBroff, Jake, primary, Omer, Nurit, additional, Cohen, Batsheva, additional, Giladi, Nir, additional, Kestenbaum, Meir, additional, Shirvan, Julia C., additional, Cedarbaum, Jesse M., additional, Gana‐Weisz, Mali, additional, Goldstein, Orly, additional, Orr‐Urtreger, Avi, additional, Mirelman, Anat, additional, and Thaler, Avner, additional

Published
2023
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26. Trial of Cinpanemab in Early Parkinson’s Disease

Author

Lang, Anthony E., primary, Siderowf, Andrew D., additional, Macklin, Eric A., additional, Poewe, Werner, additional, Brooks, David J., additional, Fernandez, Hubert H., additional, Rascol, Olivier, additional, Giladi, Nir, additional, Stocchi, Fabrizio, additional, Tanner, Caroline M., additional, Postuma, Ronald B., additional, Simon, David K., additional, Tolosa, Eduardo, additional, Mollenhauer, Brit, additional, Cedarbaum, Jesse M., additional, Fraser, Kyle, additional, Xiao, James, additional, Evans, Karleyton C., additional, Graham, Danielle L., additional, Sapir, Inbal, additional, Inra, Jennifer, additional, Hutchison, R. Matthew, additional, Yang, Minhua, additional, Fox, Tara, additional, Budd Haeberlein, Samantha, additional, and Dam, Tien, additional

Published
2022
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27. Designing drug trials for Alzheimer’s disease: What we have learned from the release of the phase III antibody trials: A report from the EU/US/CTAD Task Force

Author

Vellas, Bruno, Carrillo, Maria C., Sampaio, Cristina, Brashear, H. Robert, Siemers, Eric, Hampel, Harald, Schneider, Lon S., Weiner, Michael, Doody, Rachelle, Khachaturian, Zaven, Cedarbaum, Jesse, Grundman, Michael, Broich, Karl, Giacobini, Ezio, Dubois, Bruno, Sperling, Reisa, Wilcock, Gordon K., Fox, Nick, Scheltens, Philip, Touchon, Jacques, Hendrix, Suzanne, Andrieu, Sandrine, and Aisen, Paul

Published
2013
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29. A qualitative evaluation of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) by the patient community: a web-based cross-sectional survey.

Author

Boyce, Danielle, Robinson, Michael, Cedarbaum, Jesse M., Shank, Lisa M., McDermott, Christopher J., and van Eijk, Ruben P. A.

Subjects
AMYOTROPHIC lateral sclerosis, COMMUNITIES, INTERNET surveys, HEALTH literacy, CAREGIVERS
Abstract

The revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) is the most commonly used outcome measure in ALS studies. The aim of this study was to identify potential limitations of the ALSFRS-R from the perspective of people living with ALS and their caregivers. A web-based survey was developed by investigators, people living with ALS, and their caregivers, and shared across social media. For each item, participants were asked, "Can you think of a situation where you might not be able to answer this item accurately or that your answer might not reflect your abilities?" Responses were divided into two categories: criticisms that could be addressed in a manual or issues with the items/responses that would require measure modification. 57 participants (72% participants with ALS, 28% caregivers) responded to at least one item question, of which 71.9% expressed concern about at least one item. The most frequently identified items were speech, walking, and cutting food. Common criticisms were: language used is of a medical literacy level too high; item is situational; difficult to distinguish the difference between response choices; and the structure and/or underlying assumptions of the item makes it difficult to answer. Several items of the ALSFRS-R were considered to inaccurately reflect the abilities of patients with ALS. The ALSFRS-R may need a revision to address these issues, preferably in co-development with people living with ALS and their caregivers, and/or alternate outcome measures should be considered for patients with ALS. [ABSTRACT FROM AUTHOR]

Published
2023
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36. Glucocerebrosidase Activity Is Not Associated with Parkinson's Disease Risk or Severity

Author

Omer, Nurit, primary, Giladi, Nir, additional, Gurevich, Tanya, additional, Bar‐Shira, Anat, additional, Gana‐Weisz, Mali, additional, Glinka, Tal, additional, Goldstein, Orly, additional, Kestenbaum, Meir, additional, Cedarbaum, Jesse M., additional, Mabrouk, Omar S., additional, Fraser, Kyle B., additional, Shirvan, Julia C., additional, Orr‐Urtreger, Avi, additional, Mirelman, Anat, additional, and Thaler, Avner, additional

Published
2022
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37. Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity

Author

Omer, Nurit, primary, Giladi, Nir, additional, Gurevich, Tanya, additional, Bar‐Shira, Anat, additional, Gana‐Weisz, Mali, additional, Glinka, Tal, additional, Goldstein, Orly, additional, Kestenbaum, Meir, additional, Cedarbaum, Jesse M., additional, Mabrouk, Omar S., additional, Fraser, Kyle B., additional, Shirvan, Julia C., additional, Orr‐Urtreger, Avi, additional, Mirelman, Anat, additional, and Thaler, Avner, additional

Published
2021
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38. A Phase I Study of Intravitreal Vascular Endothelial Growth Factor Trap-Eye in Patients with Neovascular Age-Related Macular Degeneration

Author

Nguyen, Quan Dong, Shah, Syed Mahmood, Browning, David J., Hudson, Henry, Sonkin, Peter, Hariprasad, Seenu M., Kaiser, Peter, Slakter, Jason S., Haller, Julia, Do, Diana V., Mieler, William F., Chu, Karen, Yang, Ke, Ingerman, Avner, Vitti, Robert L., Berliner, Alyson J., Cedarbaum, Jesse M., and Campochiaro, Peter A.

Published
2009
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41. Systematic Assessment of 10 Biomarker Candidates Focusing on α‐Synuclein‐Related Disorders

Author

Schulz, Isabel, primary, Kruse, Niels, additional, Gera, Roland G., additional, Kremer, Thomas, additional, Cedarbaum, Jesse, additional, Barbour, Robin, additional, Zago, Wagner, additional, Schade, Sebastian, additional, Otte, Birgit, additional, Bartl, Michael, additional, Hutten, Samantha J., additional, Trenkwalder, Claudia, additional, and Mollenhauer, Brit, additional

Published
2021
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42. Mutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers

Author

Thaler, Avner, primary, Omer, Nurit, additional, Giladi, Nir, additional, Gurevich, Tanya, additional, Bar-Shira, Anat, additional, Gana-Weisz, Mali, additional, Goldstein, Orly, additional, Kestenbaum, Meir, additional, Shirvan, Julia C., additional, Cedarbaum, Jesse M., additional, Orr-Urtreger, Avi, additional, Regev, Keren, additional, Shenhar-Tsarfaty, Shani, additional, and Mirelman, Anat, additional

Published
2021
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44. Biomarkers of sarcopenia in clinical trials—recommendations from the International Working Group on Sarcopenia

Author

Cesari, Matteo, Fielding, Roger A., Pahor, Marco, Goodpaster, Bret, Hellerstein, Marc, Van Kan, Gabor A., Anker, Stefan D., Rutkove, Seward, Vrijbloed, J. Willem, Isaac, Maria, Rolland, Yves, M’Rini, Christine, Aubertin-Leheudre, Mylène, Cedarbaum, Jesse M., Zamboni, Mauro, Sieber, Cornell C., Laurent, Didier, Evans, William J., Roubenoff, Ronenn, Morley, John E., Vellas, Bruno, and for the International Working Group on Sarcopenia

Published
2012
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46. Detecting Sensitive Mobility Features for Parkinson's Disease Stages Via Machine Learning

Author

Mirelman, Anat, primary, Ben Or Frank, Mor, additional, Melamed, Michal, additional, Granovsky, Lena, additional, Nieuwboer, Alice, additional, Rochester, Lynn, additional, Del Din, Silvia, additional, Avanzino, Laura, additional, Pelosin, Elisa, additional, Bloem, Bastiaan R., additional, Della Croce, Ugo, additional, Cereatti, Andrea, additional, Bonato, Paolo, additional, Camicioli, Richard, additional, Ellis, Theresa, additional, Hamilton, Jamie L., additional, Hass, Chris J., additional, Almeida, Quincy J., additional, Inbal, Maidan, additional, Thaler, Avner, additional, Shirvan, Julia, additional, Cedarbaum, Jesse M., additional, Giladi, Nir, additional, and Hausdorff, Jeffrey M., additional

Published
2021
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47. Longitudinal Changes in Neuromelanin MRI Signal in Parkinson's Disease: A Progression Marker

Author

Gaurav, Rahul, primary, Yahia‐Cherif, Lydia, additional, Pyatigorskaya, Nadya, additional, Mangone, Graziella, additional, Biondetti, Emma, additional, Valabrègue, Romain, additional, Ewenczyk, Claire, additional, Hutchison, R. Matthew, additional, Cedarbaum, Jesse M., additional, Corvol, Jean‐Christophe, additional, Vidailhet, Marie, additional, and Lehéricy, Stéphane, additional

Published
2021
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48. The genetic architecture of the human cerebral cortex

Author

Grasby, Katrina L, Jahanshad, Neda, Shatokhina, Natalia, Mirza-Schreiber, Nazanin, Moreira, Jose C V, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M, Orfanos, Dimitri Papadopoulos, Pearson, John F, Zsembik, Leo C P, Pitcher, Toni L, Pütz, Benno, Quidé, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M, Reay, William R, Redlich, Ronny, Reinbold, Céline S, Repple, Jonathan, Richard, Geneviève, Thomopoulos, Sophia I, Riedel, Brandalyn C, Risacher, Shannon L, Rocha, Cristiane S, Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J, Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R, Zhu, Alyssa H, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E, Sprooten, Emma, Tansey, Katherine E, Teumer, Alexander, Thalamuthu, Anbupalam, Strike, Lachlan T, Tordesillas-Gutiérrez, Diana, Turner, Jessica A, Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, van Donkelaar, Marjolein M J, van Eijk, Liza, van Erp, Theo G M, van Haren, Neeltje E M, van Rooij, Daan, Agartz, Ingrid, van Tol, Marie-José, Veldink, Jan H, Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M, Wen, Wei, Westlye, Lars T, Whelan, Christopher D, Alhusaini, Saud, Witt, Stephanie H, Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L, Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P, Artiges, Eric, Almeida, Marcio A A, Assareh, Amelia A, Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L, Brown, Gregory G, Cichon, Sven, Curran, Joanne E, Davies, Gareth E, Degenhardt, Franziska, Dennis, Michelle F, Alnæs, Dag, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P, Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A, Green, Robert C, Häusler, Alexander N, Heindel, Walter, Amlien, Inge K, Ho, Beng-Choon, Hoffmann, Wolfgang U, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R, Jang, MiHyun, Jansen, Andreas, Kimbrel, Nathan A, Kolskår, Knut, Painter, Jodie N, Andersson, Micael, Koops, Sanne, Krug, Axel, Lim, Kelvin O, Luykx, Jurjen J, Mathalon, Daniel H, Mather, Karen A, Mattay, Venkata S, Matthews, Sarah, Mayoral Van Son, Jaqueline, McEwen, Sarah C, Ard, Tyler, Melle, Ingrid, Morris, Derek W, Mueller, Bryon A, Nauck, Matthias, Nordvik, Jan E, Nöthen, Markus M, O'Leary, Daniel S, Opel, Nils, Martinot, Marie-Laure Paillère, Pike, G Bruce, Armstrong, Nicola J, Preda, Adrian, Quinlan, Erin B, Rasser, Paul E, Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M, Tooney, Paul A, Torres, Fábio R, Veltman, Dick J, Voyvodic, James T, Ashley-Koch, Allison, Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H H, Bis, Joshua C, Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Atkins, Joshua R, Ikram, M Arfan, Launer, Lenore, Longstreth, W. T., Lopez, Oscar L, Mazoyer, Bernard, Mosley, Thomas H, Roshchupkin, Gennady V, Satizabal, Claudia L, Schmidt, Reinhold, Seshadri, Sudha, Bernard, Manon, Yang, Qiong, Initiative, Alzheimer’s Disease Neuroimaging, Consortium, CHARGE, Consortium, EPIGEN, Consortium, IMAGEN, Consortium, SYS, Initiative, Parkinson’s Progression Markers, Alvim, Marina K M, Ames, David, Anderson, Tim J, Brouwer, Rachel M, Andreassen, Ole A, Arias-Vasquez, Alejandro, Bastin, Mark E, Baune, Bernhard T, Beckham, Jean C, Blangero, John, Boomsma, Dorret I, Brodaty, Henry, Brunner, Han G, Buckner, Randy L, Buimer, Elizabeth E L, Buitelaar, Jan K, Bustillo, Juan R, Cahn, Wiepke, Cairns, Murray J, Calhoun, Vince, Carr, Vaughan J, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L, Cendes, Fernando, Bülow, Robin, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C, Dannlowski, Udo, de Geus, Eco J C, Deary, Ian J, Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Bürger, Christian, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E, Flor, Herta, Forstner, Andreas J, Francks, Clyde, Franke, Barbara, Glahn, David C, Gollub, Randy L, Grabe, Hans J, Colodro-Conde, Lucía, Cannon, Dara M, Gruber, Oliver, Håberg, Asta K, Hariri, Ahmad R, Hartman, Catharina A, Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans A, Hillegers, Manon H J, Hoekstra, Pieter J, Holmes, Avram J, Chakravarty, Mallar, Hong, L Elliot, Hopkins, William D, Hulshoff Pol, Hilleke E, Jernigan, Terry L, Jönsson, Erik G, Kahn, René S, Kennedy, Martin A, Kircher, Tilo T J, Kochunov, Peter, Kwok, John B J, Chen, Qiang, Le Hellard, Stephanie, Loughland, Carmel M, Martin, Nicholas G, Martinot, Jean-Luc, McDonald, Colm, McMahon, Katie L, Meyer-Lindenberg, Andreas, Michie, Patricia T, Morey, Rajendra A, Mowry, Bryan, Cheung, Joshua W, Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A, Pantelis, Christos, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Polderman, Tinca J C, Posthuma, Danielle, Rietschel, Marcella, Couvy-Duchesne, Baptiste, Roffman, Joshua L, Rowland, Laura M, Sachdev, Perminder S, Sämann, Philipp G, Schall, Ulrich, Schumann, Gunter, Scott, Rodney J, Sim, Kang, Sisodiya, Sanjay M, Smoller, Jordan W, Dale, Anders M, Sommer, Iris E, St Pourcain, Beate, Stein, Dan J, Toga, Arthur W, Trollor, Julian N, Van der Wee, Nic J A, van 't Ent, Dennis, Völzke, Henry, Walter, Henrik, Weber, Bernd, Dalvie, Shareefa, Weinberger, Daniel R, Wright, Margaret J, Zhou, Juan, Stein, Jason L, Thompson, Paul M, Medland, Sarah E, Consortium, Enhancing NeuroImaging Genetics through Meta-Analysis, Witte, A Veronica, Darin, Abigail, Fleisher, Adam, de Araujo, Tânia K, Pierce, Aimee, Mintz, Akiva, Lerner, Alan, Reith, Alastair D, Hofman, Albert, Espay, Alberto, Ihlenfeld, Albrecht, Ing, Alex, Iranzo, Alex, Beiser, Alexa S, de Zubicaray, Greig I, Norbash, Alexander, Barbot, Alexis, Rudolph, Alice, Portillo, Alicia, Chalker, Alison, Levey, Allan I, Rosen, Allyson, Smith, Amanda, Catafau, Ana, de Zwarte, Sonja M C, Ulysse, Anaztasia, Uitterlinden, André G, Becker, Andreas, Budson, Andrew E, Kertesz, Andrew, Siderowf, Andrew, Bralten, Janita, den Braber, Anouk, Singleton, Andrew, James, Angela, Oliver, Angela, Mishra, Aniket, Hake, Ann Marie, Burke, Anna, Sarrael, Antero, Porsteinsson, Anton P, Stringaris, Argyris, McCoy, Arita, Doan, Nhat Trung, Villringer, Arno, Lenahan, Art, Toga, Arthur, Bokde, Arun, Rawlins, Ashlee, Lamb, Ashley, Lee, Athena, Raj, Balebail Ashok, Tran, Baochan, Dohm, Katharina, Ruggeri, Barbara, Saba, Barbara, Lane, Barton, Yanez, Beatriz, Ances, Beau, Dunlop, Becky, Mudge, Benita, Ravina, Bernard, Ittermann, Bernd, Ehrlich, Stefan, van Noort, Betteke, Lind, Betty, Shah, Bina, Stefanovic, Bojana, Goldstein, Bonnie S, Bonakdarpour, Borna, Matthews, Brandy R, Borowski, Bret, Ott, Brian R, Reynolds, Brigid, Engelbrecht, Hannah-Ruth, Mollenhauer, Brit, Miller, Bruce L, Psaty, Bruce M, Spann, Bryan M, Sadowsky, Carl, Linder, Carly, Franz, Carol E, Tanner, Caroline, Kopil, Catherine, Thomas, Cathi-Ann, Erk, Susanne, Ward, Chad, Bernick, Charles, Smith, Charles D, DeCarli, Charles, Caspell, Chelsea, Deeley, Cheryl, Riordan, Cheryl, Mathis, Chet, Onyike, Chiadi, Heyn, Chris Chinthaka, Fan, Chun Chieh, Hosein, Chris, Leach, Christi, Bÿchel, Christian, Gigliotti, Christina, Hunter, Christine, Belden, Christine M, Tzourio, Christophe, Coffey, Christopher, van Dyck, Christopher H, Clark, Christopher M, Fedko, Iryna O, Wu, Chuang-Kuo, Albers, Colleen S, Chu, Congying, Brand, Connie, Isensee, Corinna, van Duijn, Cornelia M, Bishop, Courtney, Bodge, Courtney, Foley, Sonya F, Tatsuoka, Curtis, Casaceli, Cynthia, Carlsson, Cynthia M, Mathews, Dana, D'Agostino, Daniel, Silverman, Daniel H S, Marson, Daniel, Berg, Daniela, Harvey, Danielle, Jennings, Danna, Ford, Judith M, Wolk, David A, Goldstein, David B, Bachman, David, Brooks, David, Clark, David, Geldmacher, David, Hart, David, Holtzman, David, Jones, David, Hibar, Derrek P, Fukunaga, Masaki, Knopman, David, Hewitt, David L, Perry, David, Russell, David, Standaert, David, Winkfield, David, Green, Davis Robert C, Fontaine, Deborah, Miller, Delwyn D, Gessert, Devon, Garrett, Melanie E, Kerwin, Diana, Willeke, Diana, Drost, Dick, Papadopoulos, Dimitri, Rowe, Dominic, Simpson, Donna M, Muni, Donna, Galasko, Douglas, Scharre, Douglas W, Fillmer, Ariane, Ge, Tian, Bartha, Rob, Celmins, Dzintra, Zimmerman, Earl A, Teng, Edmond, Tolosa, Eduardo, Coleman, Edward, Zamrini, Edward, Mitsis, Effie, Finger, Elizabeth, Giddaluru, Sudheer, Oates, Elizabeth, Sosa, Elizabeth, Woo, Ellen, Rogalski, Emily, Lethbridge, Emma, Dooley, Eoin, Foster, Eric, Reiman, Eric M, Quinlan, Erin Burke, Goldman, Aaron L, Franklin, Erin, Heinzen, Erin L, Fletcher, Evan, Sprenger, Fabienne, Crivello, Fabrice, Biondo, Francesca, Parfitt, Francine, Hefti, Franz, Beyer, Frauke, Nees, Frauke, Green, Melissa J, Leonard, Gabriel, Robert, Gabriel, Thai, Gaby, Marshall, Gad A, Barker, Gareth, Conrad, Gary, Tremont, Geoffrey, Bartzokis, George, Groenewold, Nynke A, Hsiung, Ging-Yuek Robin, Malferrari, Giulia, Chiang, Gloria, Pearlson, Godfrey D, Liang, Grace, Jicha, Greg, Sorensen, Greg, Todd, Gretchen, Jimenez, Gustavo, Grotegerd, Dominik, Zare, Habil, Grabe, Hans Jörgen, Vanderswag, Helen, Schmidt, Helena, Venkov, Heli, Lemaitre, Hervé, Gurholt, Tiril P, Grossman, Hillel, Shill, Holly, Soares, Holly, Lin, Honghuang, Capote, Horacio, Bergman, Howard, Chertkow, Howard, Feldman, Howard, Fillit, Howard, Rosen, Howard J, Gutman, Boris A, Koleva, Hristina, Fernandez, Hubert, Garavan, Hugh, Shim, Hyungsub, Grachev, Igor D, Richard, Irene, Filippi, Irina, Rachinsky, Irina, Wurster, Isabel, Lind, Penelope A, Hansell, Narelle K, Mintzer, Jacobo, Ziolkowski, Jaimie, Brewer, James, Lah, James J, Leverenz, James, Becker, James T, Tetrud, James, Singleton-Garvin, Jamika, Egebjerg, Jan, Cellar, Janet S, Harris, Mathew A, Pentilla, Jani, Brosch, Jared R, Tinklenberg, Jared, Karlawish, Jason H, Meyer, Javier Villanueva, Himali, Jayandra J, Poline, Jean-Baptiste, Gunter, Jeff, Kaye, Jeffrey A, Harrison, Marc B, Dalley, Jeffrey, Burns, Jeffrey M, Petrella, Jeffrey R, Mule, Jennifer, Salazar, Jennifer, Rotter, Jerome I, Yesavage, Jerome, Cedarbaum, Jesse, Jiang, Jiyang, Haswell, Courtney C, Allard, Joanne, Lord, Joanne L, Hetelle, Joel, Kwok, John B, Brockington, John, Morris, John C, Hsiao, John, Morris, John, Olichney, John, Trojanowki, John Q, Hauser, Michael, Rogers, John, Seibyl, John, Yankey, Jon, Dubow, Jordan S, Jankovic, Joseph, Quinn, Joseph, Kass, Joseph S, Taylor, Joy L, Heidebrink, Judith L, Herms, Stefan, Trollor, Julian, Fröhner, Juliane, Anderson, Karen, Blank, Karen, Crawford, Karen, Smith, Karen Ekstam, Bell, Karen L, Williams, Karen, Kieburtz, Karl, Heslenfeld, Dirk J, Gauss, Katharina, Gloer, Katherine, Johnson, Kathleen, Tingus, Kathleen, DeMarco, Kathryn, Sink, Kaycee M, Hawkins, Keith A, Johnson, Keith A, Kantarci, Kejal, Ho, New Fei, Faber, Kelley, Harless, Kelly, Makino, Kelly M, Marek, Kenneth, Spicer, Kenneth, Shianna, Kevin, Chen, Kewei, Nam, Ki Won, Martin, Kim, Poki-Walker, Kim, Hoehn, David, Seppi, Klaus, Johnson, Kris, Fargher, Kristin, Lipowski, Kristine, Espay, Kristy, Womack, Kyle, Chahine, Lama, Flashman, Laura A, Daedelow, Laura, Hoffmann, Per, Leary, Laura, Beckett, Laurel, Honig, Lawrence S, Thal, Leon, Shaw, Leslie M, Kuller, Lew, Apostolova, Liana, Teodoro, Liberty, Rees, Linda, Pizzagalli, Fabrizio, Holleran, Laurena, Lewis, Lindsay, Hergesheimer, Lindsey, Silbert, Lisa C, Ravdin, Lisa, Taylor-Reinwald, Lisa, Uribe, Liz, Schneider, Lon S, Daiello, Lori A, Richer, Louis, Poustka, Luise, Hoogman, Martine, Pirpamer, Lukas, Mesulam, M Marcel, Ismail, M Saleem, Ranola, Madelaine, Korecka, Magdalena, Raichle, Marc, Seltzer, Marc, van der Brug, Marcel, Hottenga, Jouke-Jan, Mesulam, Marek-Marsel, Carrillo, Maria, Carroll, Maria, Knol, Maria J, Kataki, Maria, Greig-Custo, Maria T, Paillere, Marie-Laure, Albert, Marilyn, Love, Marissa Natelson, Ikeda, Masashi, Mintun, Mark A, Frasier, Mark, Logue, Mark, Minton, Mark, Loeffler, Markus, Scholz, Markus, Baca, Marne, Farlow, Martin R, Sadowski, Martin, Janowitz, Deborah, Creech, Mary L, Hynes, Mary L, Quiceno, Mary, Oakley, MaryAnn, Harris, Mat, Senjem, Matt, Bernstein, Matthew, Panizzon, Matthew S, Stern, Matthew, Becerra, Mauricio, Jansen, Iris E, Witbracht, Megan, Vernooij, Meike W, Brandabur, Melanie, Keltz, Melanie, Lamar, Melissa, Yang, Mia, Ahlijanian, Michael, Borrie, Michael, Neale, Michael C, Donohue, Michael, Jia, Tianye, Lyons, Michael J, Lin, Michael, Rapp, Michael, Smolka, Michael, Weiner, Michael W, Weiner, Michael, Figurski, Michal, Perron, Michel, Assaly, Michele, Luciano, Michelle, Jockwitz, Christiane, Rainka, Michelle, Dang, Mimi, Sheikh, Mohammed O, Ghanbari, Mohsen, Gaikwad, Mrunalini, Chowdhury, Munir, Trncic, Nadira, Amin, Najaf, Johnson, Nancy, Kanai, Ryota, Kowalksi, Nancy, Monahan, Nancy, Gillespie, Nathan A, Pacini, Nathaniel, Buckholtz, Neil, Kowall, Neil, Graff-Radford, Neill R, Fox, Nick, Pavese, Nicola, Karama, Sherif, Cairns, Nigel J, Schuff, Norbert, Foster, Norm, Relkin, Norman, Oyonumo, Ntekim E, Pomara, Nunzio, James, Olga, Ogunlana, Olu, Ching, Christopher R K, Kasperaviciute, Dalia, Carmichael, Owen, Doraiswamy, P Murali, Casalin, Paola, Barone, Paolo, Fatica, Parianne, Conrod, Patricia, Johnson, Patricia Lynn, Samuels, Patricia, Aisen, Paul, Malloy, Paul, Kaufmann, Tobias, Thompson, Paul, Ogrocki, Paula, Bezivin-Frere, Pauline, Maillard, Pauline, Fontoura, Paulo, Taylor, Peggy, Hogarth, Penelope, Gowland, Penny, Davies, Peter, Kelly, Sinead, Hardy, Peter, Snyder, Peter J, Snyder, Peter, Amouyel, Philippe, Muglia, Pierandrea, Tariot, Pierre, Lu, Po H, Varma, Pradeep, Vemuri, Prashanthi, Kikuchi, Masataka, Doody, Rachelle S, Carter, Raina, Shah, Raj C, Griffith, Randall, Yeh, Randy, Duara, Ranjan, Tarawneh, Rawan, James, Raymond, Turner, Raymond Scott, Klein, Marieke, Hernando, Raymundo, Silverstein, Rebecca, Sperling, Reisa A, Wilson, Renee, Carson, Richard E, Frank, Richard, El Khouli, Riham, Koeppe, Robert A, Santulli, Robert B, Knapp, Michael, Hauser, Robert, Umek, Robert, Radtke, Rodney, Killiany, Ronald, Petersen, Ronald, Rodriguez, Rosemarie, Miranda, Ruben, Knodt, Annchen R, Bruehl, Ruediger, Xia, Rui, Swerdlow, Russell H, Ottmann, Ruth, Millenet, Sabina, Borges-Neto, Salvador, Frank, Samuel, Black, Sandra, Weintraub, Sandra, Obradov, Sanja, Krämer, Bernd, Asthana, Sanjay, Vaishnavi, Sanjeev, Dolen, Sara, Mason, Sara S, Hohmann, Sarah, Kremen, Sarah, Miller, Sarah, Walter, Sarah, Herring, Scott, Neu, Scott, Lam, Max, Aydin, Semiha, Ahmad, Shahzad, Harlan, Sherry, Sirrel, Sherye A, Lasch, Shirley, Hu, Shu-Ching, Li, Shuo, Kittur, Smita, Chowdhury, Sohini, Lancaster, Thomas M, Pawluczyk, Sonia, Maingault, Sophie, Schneider, Stacy, Seiler, Stephan, Guthrie, Stephanie, Kielb, Stephanie, Reeder, Stephanie, Correia, Stephen, Pasternak, Stephen, McMahon, Mary Agnes B, Lee, Phil H, Salloway, Stephen, Johnson, Sterling, Williams, Steve, Chao, Steven, Arnold, Steven E, Paul, Steven, Potkin, Steven, Factor, Stewart, Isaacson, Stuart, Lett, Tristram A, Kim, Sungeun, Ainscough, Susan, Schultz, Susan K, Landau, Susan, Mendick, Susan, Rountree, Susan, Ostrowizki, Suzanne, Veillette, Suzanne, van der Lee, Sven J, Desrivieres, Sylvane, Lewis, Lindsay B, Lee, T-Y, Simuni, Tanya, Foroud, Tatiana, Foroud, Tatiana M, Wong, Terence Z, Villena, Teresa, Comery, Thomas, Obisesan, Thomas O, Lopes-Cendes, Iscia, Banaschewski, Tobias, Sherer, Todd, Montine, Tom, Paus, Tomáš, Robbins, Trevor, Bromberg, Uli, Völker, Uwe, Pavlik, Valory, Arnedo, Vanessa, Kiyasova, Vera, Bates, Vernice, Logovinsky, Veronika, Sossi, Vesna, Shibley, Victoria, Frouin, Vincent, Lee, Virginia, Poewe, Werner, Jagust, William, Brooks, William M, Macciardi, Fabio, Pavlosky, William, Potter, William, Kremen, William S, Longstreth, William T, Niessen, Wiro J, Jian, Xueqiu, Stern, Yaakov, Saba, Yasaman, Cabrera, Yuliana, Grimmer, Yvonne, Marquand, Andre F, Khachaturian, Zaven, Mari, Zoltan, Mathias, Samuel R, Melzer, Tracy R, Milaneschi, Yuri, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Stochastics, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, Science and Society, Cognitive Psychology, IBBA, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, Clinical Neuropsychology, Sociology and Social Gerontology, Amsterdam Neuroscience - Complex Trait Genetics, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Neurology, Psychiatry, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Human genetics, APH - Digital Health, Psychology, Precision Medicine Institute of Psychiatry, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, Clinical Genetics, Epidemiology, Medical Informatics, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neurodegeneratives Diseases Institute (IMN-UMR CNRS 5293), Centre National de la Recherche Scientifique (CNRS), General Paediatrics, ARD - Amsterdam Reproduction and Development, Direction de Recherche Fondamentale (CEA) (DRF (CEA)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), [SDV]Life Sciences [q-bio], LOCI, Genome-wide association study, Brain mapping, 0302 clinical medicine, Cognition, Cortex (anatomy), ComputingMilieux_MISCELLANEOUS, Cerebral Cortex, 0303 health sciences, Brain Mapping, Multidisciplinary, COMMON VARIANTS, Parkinson Disease, Organ Size, Central sulcus, Magnetic Resonance Imaging, medicine.anatomical_structure, Cerebral cortex, Neuroinformatics, EXPRESSION, endocrine system, central sulcus, SURFACE-AREA, Biology, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic variation, medicine, Attention deficit hyperactivity disorder, Humans, General, Gene, METAANALYSIS, 030304 developmental biology, Progenitor, CORTICAL SULCI, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic variants, Genetic Variation, Attention Deficit Disorder with Hyperactivity, Genetic Loci, Genome-Wide Association Study, functional annotation, medicine.disease, Genetic architecture, 030104 developmental biology, Evolutionary biology, OBSERVER-INDEPENDENT CHARACTERIZATION, Multiple comparisons problem, ddc:320, genome-wide association, Neuroscience, 030217 neurology & neurosurgery
Abstract

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group., The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

Published
2020

50. Prevention trials in Alzheimerʼs disease: An EU-US task force report

Author

Vellas, Bruno, Aisen, Paul S., Sampaio, Cristina, Carrillo, Maria, Scheltens, Philip, Scherrer, Bruno, Frisoni, Giovanni B., Weiner, Michael, Schneider, Lon, Gauthier, Serge, Wied, Christine C. Gispen-de, Hendrix, Suzanne, Feldman, Howard, Cedarbaum, Jesse, Petersen, Ronald, Siemers, Eric, Andrieu, Sandrine, Prvulovic, David, Touchon, Jacques, and Hampel, Harald

Published
2011
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