Publications

Impact of the COVID 19 pandemic on daily life, mood, and behavior of adults with Down syndrome. Hartley SL, Fleming V, Piro-Gambetti B, Cohen A, Ances BM, Yassa MA, Brickman AM, Handen BL, Head E, Mapstone M, Christian BT, Lott IT, Doran E, Zaman S, Krinsky-McHale S, Schmitt FA, Hom C, Schupf N; ABC-DS Group.Disabil Health J. 2022 Feb 17:101278. doi: 10.1016/j.dhjo.2022.101278. Online ahead of print.PMID: 35256308

Probing the proteome to explore potential correlates of increased Alzheimer’s-related cerebrovascular disease in adults with Down syndrome. Moni F, Petersen ME, Zhang F, Lao PJ, Zimmerman ME, Gu Y, Gutierrez J, Rizvi B, Laing KK, Igwe KC, Sathishkumar M, Keator D, Andrews H, Krinsky-McHale S, Head E, Lee JH, Lai F, Yassa MA, Rosas HD, Silverman W, Lott IT, Schupf N, O’Bryant S, Brickman AM.Alzheimers Dement. 2022 Feb 24. doi: 10.1002/alz.12627. Online ahead of print.PMID: 35212182

Selective Impairment of Long-Range Default Mode Network Functional Connectivity as a Biomarker for Preclinical Alzheimer’s Disease in People with Down Syndrome. DiProspero ND, Keator DB, Phelan M, van Erp TGM, Doran E, Powell DK, Van Pelt KL, Schmitt FA, Head E, Lott IT, Yassa MA.J Alzheimers Dis. 2022;85(1):153-165. doi: 10.3233/JAD-210572.PMID: 34776436

Identifying dementia in Down syndrome with the Severe Impairment Battery, Brief Praxis Test and Dementia Scale for People with Learning Disabilities. Wallace ER, Harp JP, Van Pelt KL, Koehl LM, Caban-Holt AM, Anderson-Mooney AJ, Jicha GA, Lightner DD, Robertson WC, Head E, Schmitt FA.J Intellect Disabil Res. 2021 Dec;65(12):1085-1096. doi: 10.1111/jir.12901. Epub 2021 Nov 16.PMID: 34786786

Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model.Sawa M, Overk C, Becker A, Derse D, Albay R, Weldy K, Salehi A, Beach TG, Doran E, Head E, Yu YE, Mobley WC.Alzheimers Dement. 2021 Nov 10. doi: 10.1002/alz.12463. Online ahead of print.PMID: 34757693

Alzheimer’s disease associated with Down syndrome: a genetic form of dementia.Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M.Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3.PMID: 34687637

Cognitive and Behavioral Domains That Reliably Differentiate Normal Aging and Dementia in Down Syndrome. Harp JP, Koehl LM, Pelt KLV, Hom CL, Doran E, Head E, Lott IT, Schmitt FA.Brain Sci. 2021 Aug 25;11(9):1128. doi: 10.3390/brainsci11091128.PMID: 34573150

Postmortem Neocortical ³H-PiB Binding and Levels of Unmodified and Pyroglutamate Aβ in Down Syndrome and Sporadic Alzheimer’s Disease. Pivtoraiko VN, Racic T, Abrahamson EE, Villemagne VL, Handen BL, Lott IT, Head E, Ikonomovic MD.Front Aging Neurosci. 2021 Aug 13;13:728739. doi: 10.3389/fnagi.2021.728739. eCollection 2021.PMID: 34489686

Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study. Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J.Lancet Neurol. 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0.PMID: 34302785

Opportunities, barriers, and recommendations in down syndrome research. Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA, Bain LJ, Baumer N, Bhattacharyya A, Bogunovic D, Botteron KN, Capone G, Chandan P, Chase I, Chicoine B, Cieuta-Walti C, DeRuisseau LR, Durand S, Esbensen A, Fortea J, Giménez S, Granholm AC, Hahn LJ, Head E, Hillerstrom H, Jacola LM, Janicki MP, Jasien JM, Kamer AR, Kent RD, Khor B, Lawrence JB, Lemonnier C, Lewanda AF, Mobley W, Moore PE, Nelson LP, Oreskovic NM, Osorio RS, Patterson D, Rasmussen SA, Reeves RH, Roizen N, Santoro S, Sherman SL, Talib N, Tapia IE, Walsh KM, Warren SF, White AN, Wong GW, Yi JS.Transl Sci Rare Dis. 2021;5(3-4):99-129. doi: 10.3233/trd-200090. Epub 2021 Apr 15.PMID: 34268067

Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease. Morabito S, Miyoshi E, Michael N, Shahin S, Martini AC, Head E, Silva J, Leavy K, Perez-Rosendahl M, Swarup V.Nat Genet. 2021 Aug;53(8):1143-1155. doi: 10.1038/s41588-021-00894-z. Epub 2021 Jul 8.PMID: 34239132

APOE ε4 Association With Cognition and Alzheimer Disease Biomarkers in Down Syndrome-Implications for Clinical Trials and Treatments for All.Lemere CA, Head E, Holtzman DM.JAMA Neurol. 2021 Aug 1;78(8):913-915. doi: 10.1001/jamaneurol.2021.1649.PMID: 34228117

Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease.Aschenbrenner AJ, Baksh RA, Benejam B, Beresford-Webb JA, Coppus A, Fortea J, Handen BL, Hartley S, Head E, Jaeger J, Levin J, Loosli SV, Rebillat AS, Sacco S, Schmitt FA, Thurlow KE, Zaman S, Hassenstab J, Strydom A.Alzheimers Dement (Amst). 2021 May 2;13(1):e12184. doi: 10.1002/dad2.12184. eCollection 2021.PMID: 33969175

Tacrolimus Protects against Age-Associated Microstructural Changes in the Beagle Brain.Radhakrishnan H, Ubele MF, Krumholz SM, Boaz K, Mefford JL, Jones ED, Meacham B, Smiley J, Puskás LG, Powell DK, Norris CM, Stark CEL, Head E.J Neurosci. 2021 Jun 9;41(23):5124-5133. doi:10.1523/JNEUROSCI.0361-21.2021.Epub 2021 May 5.PMID: 33952632

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer’s Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study. Hendrix JA, Airey DC, Britton A, Burke AD, Capone GT, Chavez R, Chen J, Chicoine B, Costa ACS, Dage JL, Doran E, Esbensen A, Evans CL, Faber KM, Foroud TM, Hart S, Haugen K, Head E, Hendrix S, Hillerstrom H, Kishnani PS, Krell K, Ledesma DL, Lai F, Lott I, Ochoa-Lubinoff C, Mason J, Nicodemus-Johnson J, Proctor NK, Pulsifer MB, Revta C, Rosas HD, Rosser TC, Santoro S, Schafer K, Scheidemantel T, Schmitt F, Skotko BG, Stasko MR, Talboy A, Torres A, Wilmes K, Woodward J, Zimmer JA, Feldman HH, Mobley W.J Clin Med. 2021 Apr 28;10(9):1907. doi: 10.3390/jcm10091907.PMID: 33924960

Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer’s Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky-McHale SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Diana Rosas H, Zaman S, Wang MC, Tycko B, Lee JH, Handen B, Hartley S, Fortea J, O’Bryant S; Alzheimer’s Biomarker Consortium –Down Syndrome (ABC-DS). J Alzheimers Dis. 2021;79(2):671-681. doi: 10.3233/JAD-201167.PMID: 33337378

Chronic PERK induction promotes Alzheimer-like neuropathology in Down syndrome: Insights for therapeutic intervention. Lanzillotta C, Zuliani I, Tramutola A, Barone E, Blarzino C, Folgiero V, Caforio M, Valentini D, Villani A, Locatelli F, Butterfield DA, Head E, Perluigi M, Abisambra JF, Di Domenico F. Prog Neurobiol. 2021 Jan;196:101892. doi: 10.1016/j.pneurobio.2020.101892. Epub 2020 Aug 11.PMID: 32795489

Longitudinal assessment of dementia measures in Down syndrome. Koehl L, Harp J, Van Pelt KL, Head E, Schmitt FA.Alzheimers Dement (Amst). 2020 Nov 14;12(1):e12075.

The AT(N) framework for Alzheimer’s disease in adults with Down syndrome. Rafii MS, Ances BM, Schupf N, Krinsky-McHale SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Lai F, Rosas HD, Zaman S, Petersen ME, Strydom A, Fortea J, Handen B, O’Bryant S.Alzheimers Dement (Amst). 2020 Oct 27;12(1):e12062.

Distribution of microglial phenotypes as a function of age and Alzheimer’s disease neuropathology in the brains of people with Down syndrome. Martini AC, Helman AM, McCarty KL, Lott IT, Doran E, Schmitt FA, Head E.Alzheimers Dement (Amst). 2020 Oct 14;12(1):e12113.

A preliminary study of cerebral blood flow, aging and dementia in people with Down syndrome. Thalman S, Van Pelt KL, Lin AL, Johnson NF, Jicha G, Caban-Holt A, Robertson W, Lightner D, Powell D, Head E, Schmitt F.J Intellect Disabil Res. 2020 Dec;64(12):934-945.

Alzheimer-Related Cerebrovascular Disease in Down Syndrome. Lao PJ, Gutierrez J, Keator D, Rizvi B, Banerjee A, Igwe KC, Laing KK, Sathishkumar M, Moni F, Andrews H, Krinsky-McHale S, Head E, Lee JH, Lai F, Yassa MA, Rosas HD, Silverman W, Lott IT, Schupf N, Brickman AM.Ann Neurol. 2020 Dec;88(6):1165-1177.

Feasibility of dual-task gait to estimate Alzheimer’s related cognitive decline in Down syndrome. Van Pelt KL, Koehl L, Caban-Holt A, Anderson-Mooney A, Head E, Schmitt FA.Alzheimers Dement (Amst). 2020 Aug 25;12(1):e12092. doi: 10.1002/dad2.12092. eCollection 2020.PMID: 32875058

Chronic PERK induction promotes Alzheimer-like neuropathology in Down syndrome: Insights for therapeutic intervention. Lanzillotta C, Zuliani I, Tramutola A, Barone E, Blarzino C, Folgiero V, Caforio M, Valentini D, Villani A, Locatelli F, Butterfield DA, Head E, Perluigi M, Abisambra JF, Di Domenico F. Prog Neurobiol. 2020 Aug 11:101892.

The Alzheimer’s Biomarker Consortium-Down Syndrome: Rationale and methodology. Handen BL, Lott IT, Christian BT, Schupf N, OBryant S, Mapstone M, Fagan AM, Lee JH, Tudorascu D, Wang MC, Head E, Klunk W, Ances B, Lai F, Zaman S, Krinsky-McHale S, Brickman AM, Rosas HD, Cohen A, Andrews H, Hartley S, Silverman W; Alzheimer’s Biomarker Consortium‐Down Syndrome (ABC‐DS). Alzheimers Dement (Amst). 2020 Aug 3;12(1):e12065.

Proteomic profiles for Alzheimer’s disease and mild cognitive impairment among adults with Down syndrome spanning serum and plasma: An Alzheimer’s Biomarker Consortium-Down Syndrome (ABC-DS) study. Petersen ME, Zhang F, Schupf N, Krinsky-McHale SJ, Hall J, Mapstone M, Cheema A, Silverman W, Lott I, Rafii MS, Handen B, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas HD, Zaman S, Ances BM, Wang MC, Tycko B, Lee JH, O’Bryant S; Alzheimer’s Biomarker Consortium – Down Syndrome (ABC‐DS). Alzheimers Dement (Amst). 2020 Jun 30;12(1):e12039.

Biomarkers in Down syndrome can help us understand Alzheimer’s disease. Head E, Ances B. Lancet. 2020 Jun 27;395(10242):1951-1953.

Further understanding the connection between Alzheimer’s disease and Down syndrome. Snyder HM, Bain LJ, Brickman AM, Carrillo MC, Esbensen AJ, Espinosa JM, Fernandez F, Fortea J, Hartley SL, Head E, Hendrix J, Kishnani PS, Lai F, Lao P, Lemere C, Mobley W, Mufson EJ, Potter H, Zaman SH, Granholm AC, Rosas HD, Strydom A, Whitten MS, Rafii MS. Alzheimers Dement. 2020 Jul;16(7):1065-1077.

Metabolic correlates of prevalent mild cognitive impairment and Alzheimer’s disease in adults with Down syndrome. Mapstone M, Gross TJ, Macciardi F, Cheema AK, Petersen M, Head E, Handen BL, Klunk WE, Christian BT, Silverman W, Lott IT, Schupf N; Alzheimer’s Biomarkers Consortium–Down Syndrome (ABC‐DS) Investigators. Alzheimers Dement (Amst). 2020 Apr 5;12(1):e12028.

APOE genotype-dependent pharmacogenetic responses to rapamycin for preventing Alzheimer’s disease. Lin AL, Parikh I, Yanckello LM, White RS, Hartz AMS, Taylor CE, McCulloch SD, Thalman SW, Xia M, McCarty K, Ubele M, Head E, Hyder F, Sanganahalli BG. Neurobiol Dis. 2020 Jun;139:104834.

Brain insulin resistance triggers early onset Alzheimer disease in Down syndrome. Tramutola A, Lanzillotta C, Di Domenico F, Head E, Butterfield DA, Perluigi M, Barone E. Neurobiol Dis. 2020 Apr;137:104772.

Brain-Blood Partition Coefficient and Cerebral Blood Flow in Canines Using Calibrated Short TR Recovery (CaSTRR) Correction Method. Thalman SW, Powell DK, Ubele M, Norris CM, Head E, Lin AL. Front Neurosci. 2019 Nov 5;13:1189.

Alzheimer’s disease in aging Down syndrome. Cohen AD, Head E, Lee JH. Dev Neurobiol. 2019 Jul;79(7):611-612.

Assessing general cognitive and adaptive abilities in adults with Down syndrome: a systematic review. Hamburg S, Lowe B, Startin CM, Padilla C, Coppus A, Silverman W, Fortea J, Zaman S, Head E, Handen BL, Lott I, Song W, Strydom A. J Neurodev Disord. 2019 Aug 30;11(1):20.

Plasma metabolites related to cellular energy metabolism are altered in adults with Down syndrome and Alzheimer’s disease. Gross TJ, Doran E, Cheema AK, Head E, Lott IT, Mapstone M. Dev Neurobiol. 2019 Jul;79(7):622-638.

Neuropathological correlates of amyloid PET imaging in Down syndrome. Abrahamson EE, Head E, Lott IT, Handen BL, Mufson EJ, Christian BT, Klunk WE, Ikonomovic MD. Dev Neurobiol. 2019 Jul;79(7):750-766.

Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society. Reeves RH, Delabar J, Potier MC, Bhattacharyya A, Head E, Lemere C, Dekker AD, De Deyn P, Caviedes P, Dierssen M, Busciglio J. Mol Syndromol. 2019 Jan;9(6):279-286.

Dementia in Down syndrome: unique insights for Alzheimer disease research. Lott IT, Head E. Nat Rev Neurol. 2019 Mar;15(3):135-

Perspectives on ethnic and racial disparities in Alzheimer’s disease and related dementias: Update and areas of immediate need. Babulal GM, Quiroz YT, Albensi BC, Arenaza-Urquijo E, Astell AJ, Babiloni C, Bahar-Fuchs A, Bell J, Bowman GL, Brickman AM, Chételat G, Ciro C, Cohen AD, Dilworth-Anderson P, Dodge HH, Dreux S, Edland S, Esbensen A, Evered L, Ewers M, Fargo KN, Fortea J, Gonzalez H, Gustafson DR, Head E, Hendrix JA, Hofer SM, Johnson LA, Jutten R, Kilborn K, Lanctôt KL, Manly JJ, Martins RN, Mielke MM, Morris MC, Murray ME, Oh ES, Parra MA, Rissman RA, Roe CM, Santos OA, Scarmeas N, Schneider LS, Schupf N, Sikkes S, Snyder HM, Sohrabi HR, Stern Y, Strydom A, Tang Y, Terrera GM, Teunissen C, Melo van Lent D, Weinborn M, Wesselman L, Wilcock DM, Zetterberg H, O’Bryant SE; International Society to Advance Alzheimer’s Research and Treatment, Alzheimer’s Association. Alzheimers Dement. 2019 Feb;15(2):292-312.

Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer’s Disease. Helman AM, Siever M, McCarty KL, Lott IT, Doran E, Abner EL, Schmitt FA, Head E. J Alzheimers Dis. 2019;67(1):103-112.

Biliverdin reductase-A impairment links brain insulin resistance with increased Aβ production in an animal model of aging: Implications for Alzheimer disease. Triani F, Tramutola A, Di Domenico F, Sharma N, Butterfield DA, Head E, Perluigi M, Barone E. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3181-3194.

Metabolic and Vascular Imaging Biomarkers in Down Syndrome Provide Unique Insights Into Brain Aging and Alzheimer Disease Pathogenesis. Head E, Powell DK, Schmitt FA. Front Aging Neurosci. 2018 Jun 21;10:191.

Analysis of shared heritability in common disorders of the brain. Brainstorm Consortium. Science. 2018 Jun 22;360(6395):eaap8757.

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease. Miranda AM, Herman M, Cheng R, Nahmani E, Barrett G, Micevska E, Fontaine G, Potier MC, Head E, Schmitt FA, Lott IT, Jiménez-Velázquez IZ, Antonarakis SE, Di Paolo G, Lee JH, Hussaini SA, Marquer C. Cell Rep. 2018 Jun 5;23(10):2967-2975.

Deposition of phosphorylated amyloid-β in brains of aged nonhuman primates and canines. Kumar S, Frost JL, Cotman CW, Head E, Palmour R, Lemere CA, Walter J. Brain Pathol. 2018 May;28(3):427-430.

An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers. Rusbridge C, Salguero FJ, David MA, Faller KME, Bras JT, Guerreiro RJ, Richard-Londt AC, Grainger D, Head E, Brandner SGP, Summers B, Hardy J, Tayebi M. Front Aging Neurosci. 2018 Jan 30;10:7.

Cerebrovascular pathology in Down syndrome and Alzheimer disease. Head E, Phelan MJ, Doran E, Kim RC, Poon WW, Schmitt FA, Lott IT. Acta Neuropathol Commun. 2017 Dec 1;5(1):93.

Down syndrome, beta-amyloid and neuroimaging. Head E, Helman AM, Powell D, Schmitt FA. Free Radic Biol Med. 2018 Jan;114:102-109.

Investigation of the Safety of Focused Ultrasound-Induced Blood-Brain Barrier Opening in a Natural Canine Model of Aging. O’Reilly MA, Jones RM, Barrett E, Schwab A, Head E, Hynynen K. Theranostics. 2017 Aug 22;7(14):3573-3584.

mTOR in Down syndrome: Role in Aß and tau neuropathology and transition to Alzheimer disease-like dementia. Di Domenico F, Tramutola A, Foppoli C, Head E, Perluigi M, Butterfield DA. Free Radic Biol Med. 2018 Jan;114:94-101.

Disturbance of redox homeostasis in Down Syndrome: Role of iron dysmetabolism. Barone E, Arena A, Head E, Butterfield DA, Perluigi M. Free Radic Biol Med. 2018 Jan;114:84-93.