Publications

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.

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer’s disease. Carmona-Iragui M, Balasa M, Benejam B, Alcolea D, Fernández S, Videla L, Sala I, Sánchez-Saudinós MB, Morenas-Rodriguez E, Ribosa-Nogué R, Illán-Gala I, Gonzalez-Ortiz S, Clarimón J, Schmitt F, Powell DK, Bosch B, Lladó A, Rafii MS, Head E, Molinuevo JL, Blesa R, Videla S, Lleó A, Sánchez-Valle R, Fortea J. Alzheimers Dement. 2017 Nov;13(11):1251-1260.

Down syndrome: age-dependence of PiB binding in postmortem frontal cortex across the lifespan. LeVine H 3rd, Spielmann HP, Matveev S, Cauvi FM, Murphy MP, Beckett TL, McCarty K, Lott IT, Doran E, Schmitt F, Head E. Neurobiol Aging. 2017 Jun;54:163-169.

Translational models for vascular cognitive impairment: a review including larger species. Hainsworth AH, Allan SM, Boltze J, Cunningham C, Farris C, Head E, Ihara M, Isaacs JD, Kalaria RN, Lesnik Oberstein SA, Moss MB, Nitzsche B, Rosenberg GA, Rutten JW, Salkovic-Petrisic M, Troen AM. BMC Med. 2017 Jan 25;15(1):16.

Commentary: Building the Older Adult Fall Prevention Movement – Steps and Lessons Learned. Smith ML, Chaudhary S, Nieb S, Bayakly R, Graham K, Head E. Front Public Health. 2016 Dec 22;4:277.

Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP. Doran E, Keator D, Head E, Phelan MJ, Kim R, Totoiu M, Barrio JR, Small GW, Potkin SG, Lott IT. J Alzheimers Dis. 2017;56(2):459-470.

HNE-modified proteins in Down syndrome: Involvement in development of Alzheimer disease neuropathology. Barone E, Head E, Butterfield DA, Perluigi M. Free Radic Biol Med. 2017 Oct;111:262-269.

Aβ vaccination in combination with behavioral enrichment in aged beagles: effects on cognition, Aβ, and microhemorrhages. Davis PR, Giannini G, Rudolph K, Calloway N, Royer CM, Beckett TL, Murphy MP, Bresch F, Pagani D, Platt T, Wang X, Donovan AS, Sudduth TL, Lou W, Abner E, Kryscio R, Wilcock DM, Barrett EG, Head E. Neurobiol Aging. 2017 Jan;49:86-99.

A Novel Liposomal Nanoparticle for the Imaging of Amyloid Plaque by Magnetic Resonance Imaging. Tanifum EA, Ghaghada K, Vollert C, Head E, Eriksen JL. J Alzheimers Dis. 2016 Oct 4;54(3):1251.

Polyubiquitinylation Profile in Down Syndrome Brain Before and After the Development of Alzheimer Neuropathology. Tramutola A, Di Domenico F, Barone E, Arena A, Giorgi A, di Francesco L, Schininà ME, Coccia R, Head E, Butterfield DA, Perluigi M. Antioxid Redox Signal. 2017 Mar 1;26(7):280-298.

(1)H-MRS metabolites in adults with Down syndrome: Effects of dementia. Lin AL, Powell D, Caban-Holt A, Jicha G, Robertson W, Gold BT, Davis R, Abner E, Wilcock DM, Schmitt FA, Head E. Neuroimage Clin. 2016 Jun 2;11:728-735.

Proteolytic Cleavage of Apolipoprotein E in the Down Syndrome Brain. Day RJ, McCarty KL, Ockerse KE, Head E, Rohn TT. Aging Dis. 2016 May 27;7(3):267-77.

Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain. Jaeger PA, Lucin KM, Britschgi M, Vardarajan B, Huang RP, Kirby ED, Abbey R, Boeve BF, Boxer AL, Farrer LA, Finch N, Graff-Radford NR, Head E, Hofree M, Huang R, Johns H, Karydas A, Knopman DS, Loboda A, Masliah E, Narasimhan R, Petersen RC, Podtelezhnikov A, Pradhan S, Rademakers R, Sun CH, Younkin SG, Miller BL, Ideker T, Wyss-Coray T. Mol Neurodegener. 2016 May 23;11(1):42.

Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain. Jaeger PA, Lucin KM, Britschgi M, Vardarajan B, Huang RP, Kirby ED, Abbey R, Boeve BF, Boxer AL, Farrer LA, Finch N, Graff-Radford NR, Head E, Hofree M, Huang R, Johns H, Karydas A, Knopman DS, Loboda A, Masliah E, Narasimhan R, Petersen RC, Podtelezhnikov A, Pradhan S, Rademakers R, Sun CH, Younkin SG, Miller BL, Ideker T, Wyss-Coray T. Mol Neurodegener. 2016 Apr 26;11:31.

A Novel Liposomal Nanoparticle for the Imaging of Amyloid Plaque by Magnetic Resonance Imaging. Tanifum EA, Ghaghada K, Vollert C, Head E, Eriksen JL, Annapragada A. J Alzheimers Dis. 2016;52(2):731-45.

Activation of p53 in Down Syndrome and in the Ts65Dn Mouse Brain is Associated with a Pro-Apoptotic Phenotype. Tramutola A, Pupo G, Di Domenico F, Barone E, Arena A, Lanzillotta C, Brokeaart D, Blarzino C, Head E, Butterfield DA, Perluigi M. J Alzheimers Dis. 2016;52(1):359-371.

Gait dyspraxia as a clinical marker of cognitive decline in Down syndrome: A review of theory and proposed mechanisms. Anderson-Mooney AJ, Schmitt FA, Head E, Lott IT, Heilman KM. Brain Cogn. 2016 Apr;104:48-57.

Pathology of the Aging Brain in Domestic and Laboratory Animals, and Animal Models of Human Neurodegenerative Diseases. Youssef SA, Capucchio MT, Rofina JE, Chambers JK, Uchida K, Nakayama H, Head E. Vet Pathol. 2016 Mar;53(2):327-48.

Differential Effects of Structural Modifications on the Competition of Chalcones for the PIB Amyloid Imaging Ligand-Binding Site in Alzheimer’s Disease Brain and Synthetic Aβ Fibrils. Fosso MY, McCarty K, Head E, Garneau-Tsodikova S, LeVine H 3rd. ACS Chem Neurosci. 2016 Feb 17;7(2):171-6.

Aging in Down Syndrome and the Development of Alzheimer’s Disease Neuropathology. Head E, Lott IT, Wilcock DM, Lemere CA. Curr Alzheimer Res. 2016;13(1):18-29.

Cerebrovascular contributions to aging and Alzheimer’s disease in Down syndrome. Wilcock DM, Schmitt FA, Head E. Biochim Biophys Acta. 2016 May;1862(5):909-14.

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