Further understanding the connection between Alzheimer's disease and Down syndrome

Heather M Snyder¹, Lisa J Bain², Adam M Brickman³, Maria C Carrillo¹, Anna J Esbensen⁴, Joaquin M Espinosa⁵, Fabian Fernandez⁶, Juan Fortea^{7

8}, Sigan L Hartley⁹, Elizabeth Head¹⁰, James Hendrix¹¹, Priya S Kishnani¹², Florence Lai¹³, Patrick Lao¹⁴, Cynthia Lemere¹⁵, William Mobley¹⁶, Elliott J Mufson¹⁷, Huntington Potter¹⁸, Shahid H Zaman¹⁹, Ann-Charlotte Granholm^{20

21}, H Diana Rosas²², Andre Strydom²³, Michelle Sie Whitten²⁴, Michael S Rafii²⁵

Affiliations

¹ Alzheimer's Association, Medical & Scientific Relations, Chicago, Illinois, USA.
² Independent Science Writer, Elverson, Pennsylvania, USA.
³ Department of Neurology, College of Physicians and Surgeons, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
⁴ Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center & University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁵ Department of Pharmacology, Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, Colorado, USA.
⁶ Departments of Psychology and Neurology, BIO5 Institute, and The Evelyn F. McKnight Brain Institute, University of Arizona, Tucson, AZ, USA.
⁷ Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED, Barcelona, Spain.
⁸ Down Medical Center, Catalan Down Syndrome Foundation, Barcelona, Spain.
⁹ Department of Human Development and Family Studies, University of Wisconsin-Madison, Madison, Wisconsin, USA.
¹⁰ Department of Pathology & Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
¹¹ LuMind IDSC Foundation, Burlington, Massachusetts, USA.
¹² Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
¹³ Department of Neurology, Harvard University/Massachusetts General Hospital, Boston, Massachusetts, USA.
¹⁴ Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
¹⁵ Department of Neurology, Brigham & Women's Hospital and Harvard University, Boston, Massachusetts, USA.
¹⁶ Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
¹⁷ Barrow Neurological Institute, Phoenix, Arizona, USA.
¹⁸ Rocky Mountain Alzheimer's Disease Center and Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Denver, Colorado, USA.
¹⁹ Cambridge Intellectual & Developmental Disability Research Group, Department of Psychiatry University of Cambridge, Cambridgeshire & Peterborough NHS Foundation Trust, Cambridge, UK.
²⁰ Knoebel Institute for Healthy Aging, University of Denver, Denver, Colorado, USA.
²¹ Department of Neurobiology, Care Sciences and Society (NVS), Karolinska Institutet, Stockholm, Sweden.
²² Departments of Neurology and Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA.
²³ Department of Forensic and Neurodevelopmental Sciences, Psychology and Neuroscience, King's College London, South London and the Maudsley NHS Foundation Trust, LonDowns Consortium, Institute of Psychiatry, London, UK.
²⁴ Global Down Syndrome Foundation, Denver, Colorado, USA.
²⁵ Alzheimer's Therapeutics Research Institute and Department of Neurology, University of Southern California, Los Angeles, California, USA.

PMID: 32544310
PMCID: PMC8865308
DOI: 10.1002/alz.12112

Review

Further understanding the connection between Alzheimer's disease and Down syndrome

Heather M Snyder et al. Alzheimers Dement. 2020 Jul.

. 2020 Jul;16(7):1065-1077.

doi: 10.1002/alz.12112. Epub 2020 Jun 16.

Authors

Affiliations

¹ Alzheimer's Association, Medical & Scientific Relations, Chicago, Illinois, USA.
² Independent Science Writer, Elverson, Pennsylvania, USA.
³ Department of Neurology, College of Physicians and Surgeons, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
⁴ Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center & University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁵ Department of Pharmacology, Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, Colorado, USA.
⁶ Departments of Psychology and Neurology, BIO5 Institute, and The Evelyn F. McKnight Brain Institute, University of Arizona, Tucson, AZ, USA.
⁷ Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED, Barcelona, Spain.
⁸ Down Medical Center, Catalan Down Syndrome Foundation, Barcelona, Spain.
⁹ Department of Human Development and Family Studies, University of Wisconsin-Madison, Madison, Wisconsin, USA.
¹⁰ Department of Pathology & Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
¹¹ LuMind IDSC Foundation, Burlington, Massachusetts, USA.
¹² Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
¹³ Department of Neurology, Harvard University/Massachusetts General Hospital, Boston, Massachusetts, USA.
¹⁴ Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
¹⁵ Department of Neurology, Brigham & Women's Hospital and Harvard University, Boston, Massachusetts, USA.
¹⁶ Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
¹⁷ Barrow Neurological Institute, Phoenix, Arizona, USA.
¹⁸ Rocky Mountain Alzheimer's Disease Center and Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Denver, Colorado, USA.
¹⁹ Cambridge Intellectual & Developmental Disability Research Group, Department of Psychiatry University of Cambridge, Cambridgeshire & Peterborough NHS Foundation Trust, Cambridge, UK.
²⁰ Knoebel Institute for Healthy Aging, University of Denver, Denver, Colorado, USA.
²¹ Department of Neurobiology, Care Sciences and Society (NVS), Karolinska Institutet, Stockholm, Sweden.
²² Departments of Neurology and Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA.
²³ Department of Forensic and Neurodevelopmental Sciences, Psychology and Neuroscience, King's College London, South London and the Maudsley NHS Foundation Trust, LonDowns Consortium, Institute of Psychiatry, London, UK.
²⁴ Global Down Syndrome Foundation, Denver, Colorado, USA.
²⁵ Alzheimer's Therapeutics Research Institute and Department of Neurology, University of Southern California, Los Angeles, California, USA.

PMID: 32544310
PMCID: PMC8865308
DOI: 10.1002/alz.12112

Abstract

Improved medical care of individuals with Down syndrome (DS) has led to an increase in life expectancy to over the age of 60 years. In conjunction, there has been an increase in age-related co-occurring conditions including Alzheimer's disease (AD). Understanding the factors that underlie symptom and age of clinical presentation of dementia in people with DS may provide insights into the mechanisms of sporadic and DS-associated AD (DS-AD). In March 2019, the Alzheimer's Association, Global Down Syndrome Foundation and the LuMind IDSC Foundation partnered to convene a workshop to explore the state of the research on the intersection of AD and DS research; to identify research gaps and unmet needs; and to consider how best to advance the field. This article provides a summary of discussions, including noting areas of emerging science and discovery, considerations for future studies, and identifying open gaps in our understanding for future focus.

Keywords: Alzheimer's disease; Down syndrome; trisomy; vascular contributions.

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Conflict of interest statement

CONFLICTS OF INTEREST

Unless otherwise stated, authors have no relevant disclosures. H.M. Snyder and M.C. Carrillo are full-time employees of the Alzheimer’s Association. A.S. consulted for AC-Immune, Aelis Farma, and Ono Pharma. WM is co-inventor of a potential treatment for AD and DS-AD discovered under NIH funding; patent application is filed under UCSD and Harvard. E.J.M. consults for Regenxbio and RegenBio. J.F. is a consultant for Novartis and AC Inmune. M.R. has consulted with AC Immune.

References

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Further understanding the connection between Alzheimer's disease and Down syndrome

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Further understanding the connection between Alzheimer's disease and Down syndrome

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