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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1065-1077 |
| Number of pages | 13 |
| Journal | Alzheimer's and Dementia |
| Volume | 16 |
| Issue number | 7 |
| DOIs | |
| State | Published - Jul 1 2020 |
| Externally published | Yes |
Keywords
- Alzheimer's disease
- Down syndrome
- trisomy
- vascular contributions
ASJC Scopus subject areas
- Epidemiology
- Health Policy
- Developmental Neuroscience
- Clinical Neurology
- Geriatrics and Gerontology
- Psychiatry and Mental health
- Cellular and Molecular Neuroscience
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Further understanding the connection between Alzheimer's disease and Down syndrome. / Snyder, Heather M.; Bain, Lisa J.; Brickman, Adam M.; Carrillo, Maria C.; Esbensen, Anna J.; Espinosa, Joaquin M.; Fernandez, Fabian; Fortea, Juan; Hartley, Sigan L.; Head, Elizabeth; Hendrix, James; Kishnani, Priya S.; Lai, Florence; Lao, Patrick; Lemere, Cynthia; Mobley, William; Mufson, Elliott J.; Potter, Huntington; Zaman, Shahid H.; Granholm, Ann Charlotte; Rosas, H. Diana; Strydom, Andre; Whitten, Michelle Sie; Rafii, Michael S.
In: Alzheimer's and Dementia, Vol. 16, No. 7, 01.07.2020, p. 1065-1077.Research output: Contribution to journal › Review article › peer-review
}
TY - JOUR
T1 - Further understanding the connection between Alzheimer's disease and Down syndrome
AU - Snyder, Heather M.
AU - Bain, Lisa J.
AU - Brickman, Adam M.
AU - Carrillo, Maria C.
AU - Esbensen, Anna J.
AU - Espinosa, Joaquin M.
AU - Fernandez, Fabian
AU - Fortea, Juan
AU - Hartley, Sigan L.
AU - Head, Elizabeth
AU - Hendrix, James
AU - Kishnani, Priya S.
AU - Lai, Florence
AU - Lao, Patrick
AU - Lemere, Cynthia
AU - Mobley, William
AU - Mufson, Elliott J.
AU - Potter, Huntington
AU - Zaman, Shahid H.
AU - Granholm, Ann Charlotte
AU - Rosas, H. Diana
AU - Strydom, Andre
AU - Whitten, Michelle Sie
AU - Rafii, Michael S.
N1 - Funding Information: This meeting was organized and funded by the Alzheimer's Association, Global Down Syndrome Foundation, and LuMIND IDSC Foundation, with scientific input from the National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH). In addition, the authors and meeting organizers wish to acknowledge and thank all the participants and families who have contributed their time and energy to advancing Alzheimer's and Down syndrome research. Authors note the following funding for acknowledgement: NIH/NICHD R01HD064993 and NIH/NIA U01AG051412 (EH); Wellcome Trust Strategic Grant No. 098330/Z/12/Z conferred upon The LonDownS Consortium UK; Medical Research Council MR/S011277/1 for LonDownsPREVENT, MR/S005145/1 (via CoEN), MR/R024901/1 (via JPND for the HeROES collaboration), LuMind IDSC Foundation, and the LeJeune Foundation (AS); NIH U01AG051412 (FL); National Institute of Aging (U01AG051406) and the National Institute on Child Health and Human Development (U54 HD090256) (SH); NIH/NIA/NICHD (NiAD/ABC-DS); Alzheimer's Research-UK; Cambridgeshire & Peterborough Foundation NHS Trust; Down's Syndrome Association (UK); LeJeune Foundation (SZ); NIH; Cure Alzheimer's Fund; Ono Foundation; DH Chen Foundation; QR Pharma; AC Immune; Avanti Biosciences; Alzheimer Association (WM); R01NS076291-01, R01AG037942-01, State of Colorado, Fisher and Hewitt Family Foundations, Global Down Syndrome Foundation, Individual Donors (HP); 2018-2023NIAR01AG061566 (L. Granholm and E. J. Mufson, PhD, MPIs) Tau pathology in Down syndrome and Alzheimer's disease; 2018-2023; Bright Focus Foundation. Down syndrome brain bank, Granholm, L. (MPI) Mufson (co-PI); 2013-2019PO1AG014449 (Mufson, PI): Neurobiology of Mild Cognitive Impairment in the Elderly (PI) (EM Carlos III Institute of Health, Spain (grants PI14/01126 and PI17/01019), the National Institutes of Health (NIA grants 1R01AG056850 - 01A1; R21AG056974 and R01AG061566). ?Marat? TV3? grant (20141210) and by Generalitat de Catalunya (SLT006/17/00119) (JF); R01AG061566 Tau pathology in Down syndrome-related Alzheimer's disease. PI: Granholm/Mufson/Margittai; R21AG056974, Granholm (PI)07/15/2017-03/31/2020 Biological Correlates of Alzheimer in Down Syndrome; CA2018010, Bright Focus Foundation, Granholm (PI); 10/01/2017-09/30/2022 International Brain Bank for Down syndrome-related Alzheimer's disease; DSADIIP-13-284845 Granholm (PI) 10/01/2013- 09/30/2018 Alzheimer's Association BDNF and Executive Dysfunction in Down syndrome (CG); NIH/NICHD R01HD093754 (AE); Biomarkers of Alzheimer Disease in Adults with Down Syndrome NIH U01AG015412 (HDR); JME is funded by the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and NIH grants R01AI150305, R61AR077495, an UL1TR002535; NIA U24AG057437 (ACTC); U19AG024904 (ADNI), R01AG053798-02 (TRCPAD), R01AG047922 (ACI24 in DS) and U01AG051406 (NIAD/ABC-DS) (MSR). Funding Information: Authors note the following funding for acknowledgement: NIH/NICHD R01HD064993 and NIH/NIA U01AG051412 (EH); Wellcome Trust Strategic Grant No. 098330/Z/12/Z conferred upon The LonDownS Consortium UK; Medical Research Council MR/S011277/1 for LonDownsPREVENT, MR/S005145/1 (via CoEN), MR/R024901/1 (via JPND for the HeROES collaboration), LuMind IDSC Foundation, and the LeJeune Foundation (AS); NIH U01AG051412 (FL); National Institute of Aging (U01AG051406) and the National Institute on Child Health and Human Development (U54 HD090256) (SH); NIH/NIA/NICHD (NiAD/ABC‐DS); Alzheimer's Research‐UK; Cambridgeshire & Peterborough Foundation NHS Trust; Down's Syndrome Association (UK); LeJeune Foundation (SZ); NIH; Cure Alzheimer's Fund; Ono Foundation; DH Chen Foundation; QR Pharma; AC Immune; Avanti Biosciences; Alzheimer Association (WM); R01NS076291‐01, R01AG037942‐01, State of Colorado, Fisher and Hewitt Family Foundations, Global Down Syndrome Foundation, Individual Donors (HP); 2018‐2023NIAR01AG061566 (L. Granholm and E. J. Mufson, PhD, MPIs) Tau pathology in Down syndrome and Alzheimer's disease; 2018‐2023; Bright Focus Foundation. Down syndrome brain bank, Granholm, L. (MPI) Mufson (co‐PI); 2013‐2019PO1AG014449 (Mufson, PI): Neurobiology of Mild Cognitive Impairment in the Elderly (PI) (EM Carlos III Institute of Health, Spain (grants PI14/01126 and PI17/01019), the National Institutes of Health (NIA grants 1R01AG056850 ‐ 01A1; R21AG056974 and R01AG061566). “Marató TV3” grant (20141210) and by Generalitat de Catalunya (SLT006/17/00119) (JF); R01AG061566 Tau pathology in Down syndrome‐related Alzheimer's disease. PI: Granholm/Mufson/Margittai; R21AG056974, Granholm (PI)07/15/2017‐03/31/2020 Biological Correlates of Alzheimer in Down Syndrome; CA2018010, Bright Focus Foundation, Granholm (PI); 10/01/2017‐09/30/2022 International Brain Bank for Down syndrome‐related Alzheimer's disease; DSADIIP‐13‐284845 Granholm (PI) 10/01/2013‐ 09/30/2018 Alzheimer's Association BDNF and Executive Dysfunction in Down syndrome (CG); NIH/NICHD R01HD093754 (AE); Biomarkers of Alzheimer Disease in Adults with Down Syndrome NIH U01AG015412 (HDR); JME is funded by the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and NIH grants R01AI150305, R61AR077495, an UL1TR002535; NIA U24AG057437 (ACTC); U19AG024904 (ADNI), R01AG053798‐02 (TRCPAD), R01AG047922 (ACI24 in DS) and U01AG051406 (NIAD/ABC‐DS) (MSR). Funding Information: This meeting was organized and funded by the Alzheimer's Association, Global Down Syndrome Foundation, and LuMIND IDSC Foundation, with scientific input from the National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH). In addition, the authors and meeting organizers wish to acknowledge and thank all the participants and families who have contributed their time and energy to advancing Alzheimer's and Down syndrome research. Funding Information: Many international research consortia and collaborations are underway to advance the understanding of DS‐AD. These include the Horizon 21 Genetics Consortium (funded by J‐L Institute), AD Biological correlates in DS (NIH, PI Granholm), Inflammation and NGF Dysfunction in the Evolution of AD Pathology in DS (multicenter), Improving AD care in adults with DS (submitted to GBHI and Alzheimer's Association Pilot Award), Horizon 21 Cognitive Project, HEROES consortium funded by the JPND in Europe, the NIH Alzheimer's Biomarker Consortium for Down syndrome (ABC‐DS), and the Crnic Institute's Human Trisome Project (NCT02864108). Other projects are also underway studying exosomes, metabolomics, TREM2, Dyrk1A, neurotransmitters, NfL, novel biomarkers in DS, and modifiable risk factors including sleep. 125 Publisher Copyright: © 2020 the Alzheimer's Association
PY - 2020/7/1
Y1 - 2020/7/1
N2 - 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.
AB - 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.
KW - Alzheimer's disease
KW - Down syndrome
KW - trisomy
KW - vascular contributions
UR - http://www.scopus.com/inward/record.url?scp=85087846527&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85087846527&partnerID=8YFLogxK
U2 - 10.1002/alz.12112
DO - 10.1002/alz.12112
M3 - Review article
C2 - 32544310
AN - SCOPUS:85087846527
VL - 16
SP - 1065
EP - 1077
JO - Alzheimer's and Dementia
JF - Alzheimer's and Dementia
SN - 1552-5260
IS - 7
ER -