We evaluate the neuropathology of Down Syndrome in collaboration with Dr. Elizabeth Head, as part of the Alzheimer’s Biomarkers Consortium – Down Syndrome. The goal includes identifying biomarkers of progression for Alzheimer’s Disease in Down Syndrome patients. The picture shows many plaques in the cerebral cortex that may be seen with Down syndrome.
Liou JJ, Li J, Berardinelli J, Jin H, Santini T, Noh J, Farhat N, Wu M, Aizenstein HJ, Mettenburg JM, Yong WH, Head E, Ikonomovic MD, Ibrahim TS, Kofler JK; Alzheimer Biomarker Consortium—Down Syndrome. Correlating hippocampal and amygdala volumes with neuropathological burden in Down syndrome and Alzheimer’s disease and related neurodegenerative pathologies using 7T postmortem MRI. J Neuropathol Exp Neurol. 2025 Mar 10:nlaf010. doi: 10.1093/jnen/nlaf010.
Ngo PT, Pascual JR, Wright S, Williams CK, Magaki S, Yong WH, Vinters HV, Ringman JM, Head E. Neuropathology of trisomy 21 mosaicism in a case with early-onset dementia. Alzheimers Dement. 2025 Jan;21(1):e14394. doi: 10.1002/alz.14394.
Granholm AE, Englund E, Gilmore A, Head E, Yong WH, Perez SE, Guzman SJ, Hamlett ED, Mufson EJ. Neuropathological findings in Down syndrome, Alzheimer’s disease and control patients with and without SARS-COV-2: preliminary findings. Acta Neuropathol. 2024 May 27;147(1):92. doi: 10.1007/s00401-024-02743-9.
Aldecoa I, Barroeta I, Carroll SL, Fortea J, Gilmore A, Ginsberg SD, Guzman SJ, Hamlett ED, Head E, Perez SE, Potter H, Molina-Porcel L, Raha-Chowdhury R, Wisniewski T, Yong WH, Zaman S, Ghosh S, Mufson EJ, Granholm AC. Down Syndrome Biobank Consortium: A perspective. Alzheimers Dement. 2024 Mar;20(3):2262-2272. doi: 10.1002/alz.13692.