The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndromeResearch in context

Autor: Laura Xicota, Lam-Ha T. Dang, Alice Lee, Sharon Krinsky-McHale, Deborah Pang, Lisa Melilli, Sid O'Bryant, Rachel L. Henson, Charles Laymon, Florence Lai, H. Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H. Lee, Howard J. Aizenstein, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus Birn, Adam M. Brickman, Peter Bulova, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Lorraine Clark, Ann D. Cohen, John N. Constantino, Eric W. Doran, Anne Fagan, Eleanor Feingold, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Rachel Henson, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, Courtney Jordan, M.Ilyas Kamboh, David Keator, William E. Klunk, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky-McHale, Patrick Lao, Ira T. Lott, Victoria Lupson, Chester A. Mathis, Davneet Singh Minhas, Neelesh Nadkarni, Sid O’Bryant, Melisa Parisi, Melissa Pettersen, Julie C. Price, Margaret Pulsifer, Michael S. Rafii, Eric Reiman, Batool Rizvi, Laurie Ryan, Frederick Schmitt, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Benjamin Tycko, Badri Varadarajan, Desiree A. White, Michael A. Yassa, Fan Zhang

Publikováno v: EBioMedicine, Vol 110, Iss , Pp 105433- (2024)

Summary: Background: Individuals with Down syndrome (DS) are at high risk of early-onset Alzheimer's disease (AD); yet, some 20 percent do not develop any signs of dementia until after 65 years or in their lifetime. Mosaicism could contribute to this

Externí odkaz: https://doaj.org/article/7bcbc45f9a5e40b7ab0502504ef1c084

White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study

Autor: Austin Bazydlo, Matthew Zammit, Minjie Wu, Douglas Dean, Sterling Johnson, Dana Tudorascu, Ann Cohen, Karly Cody, Beau Ances, Charles Laymon, William Klunk, Shahid Zaman, Benjamin Handen, Andrew Alexander, Bradley Christian, Sigan Hartley

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-8 (2021)

Abstract Background Nearly all persons with Down syndrome will show pathology of Alzheimer’s disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheimer’s disease in t

Externí odkaz: https://doaj.org/article/d7ea8379ddfa47c48c6af05cc8cda298

The Alzheimer's Biomarker Consortium‐Down Syndrome: Rationale and methodology

Autor: Benjamin L. Handen, Ira T. Lott, Bradley T. Christian, Nicole Schupf, Sid OBryant, Mark Mapstone, Anne M. Fagan, Joseph H. Lee, Dana Tudorascu, Mei‐Cheng Wang, Elizabeth Head, William Klunk, Beau Ances, Florence Lai, Shahid Zaman, Sharon Krinsky‐McHale, Adam M. Brickman, H. Diana Rosas, Annie Cohen, Howard Andrews, Sigan Hartley, Wayne Silverman, the Alzheimer's Biomarker Consortium‐Down Syndrome (ABC‐DS)

Publikováno v: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 12, Iss 1, Pp n/a-n/a (2020)

Abstract Introduction Adults with Down syndrome (DS) are at exceptionally high risk for Alzheimer's disease (AD), with virtually all individuals developing key neuropathological features by age 40. Identifying biomarkers of AD progression in DS can p

Externí odkaz: https://doaj.org/article/df7df8f8d193416b869df1e178f0691b

Outcome Measures for Clinical Trials in Down Syndrome.

Autor: Esbensen AJ; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Hooper SR; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Fidler D; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Hartley SL; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Edgin J; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., d'Ardhuy XL; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Capone G; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Conners FA; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Mervis CB; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Abbeduto L; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Rafii MS; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Krinsky-McHale SJ; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir., Urv T; Anna J. Esbensen, Cincinnati Children's Hospital Medical Center; Stephen R. Hooper, University of North Carolina - Chapel Hill; Deborah Fidler, Colorado State University; Sigan L. Hartley, University of Wisconsin - Madison; Jamie Edgin, University of Arizona; Xavier Liogier d'Ardhuy, Roche Innovation Center Basel; George Capone, Kennedy Krieger Institute; Frances A. Conners, University of Alabama; Carolyn B. Mervis, University of Louisville; Leonard Abbeduto, MIND Institute, University of California, Davis School of Medicine; Michael Rafii, University of Southern California and University of California, San Diego; Sharon J. Krinsky-McHale, New York State Institute for Basic Research in Developmental Disabilities and Columbia University Medical Center; Tiina Urv, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and Outcome Measures Working Group. Note: Outcome Measures Working Group Participants: Cognition Working Group-Leonard Abbeduto, Frances Conners, Jamie Edgin, Michael Harpold, Stephen Hooper, Sharon J. Krinsky-McHale, Nancy Raitano Lee, Xavier Liogier d'Ardhuy, Carolyn Mervis, Roger Reeves, Michael Ropacki, Paul Wang; Behavior Working Group-George Capone, Elisabeth Dykens, Anna Esbensen, Deborah Fidler, Sigan Hartley, Seth Keller, Michael Rafii, Sara Weir.

Publikováno v: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2017 May; Vol. 122 (3), pp. 247-281.