Galasko, Douglas
Mayo Clinic
Department of Neurosciences, University of California San Diego, La Jolla.
Citations 4
CSF α-Synuclein Seed Amplification Assays and Skin Immunofluorescence
Adler, Charles H., Barbosa, William, Feuerstein, Jeanne , Galasko, Douglas, Jimenez-Shahed, Joohi, Lang, Anthony E., Martínez-Lemus, Juan Diego, LeWitt, Peter A., Schiess, Mya C. , Schwarzschild, Michael, Siderowf, Andrew D., Simuni, Tanya, Thordarson, Danielle, Vila, Cayla , Adams, Jamie L., Rosenthal, Liana, Group, for the Parkinson Study Group Biomarkers Working, Adler, Charles H. , Galasko, Douglas , Lang, Anthony E. , Simuni, Tanya , Jimenez‐Shahed, Joohi , Coughlin, David G , Adler, C H , Barbosa, William , Galasko, Douglas , Jimenez-Shahed, Joohi , Kannarkat, George T , Lang, Anthony E , LeWitt, Peter A. , Pantelyat, Alex , Siderowf, Andrew D , Simuni, Tanya , Tropea, Thomas Francis , Thordarson, Danielle , Rosenthal, Liana S. , Gunzler, Steven A. , Lemus, Juan De Luigi , Pantelyat, Alexander , Schwarzschild, Michael A. , Siderowf, Andrew , Adams, Jamie
Neurology | January 13, 2026 | Volume: 106 | Issue: 3 | Pages: No page available
Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
Wang, Hui , Chang, Timothy S. , Dombroski, Beth A. , Cheng, Po‐Liang , Si, Yaqin , Tucci, Albert , Patil, Vishakha, Valiente‐Banuet, Leopoldo , Li, Chong , Farrell, Kurt , Molina‐Porcel, Laura , Rajput, Alex , Gearing, Marla , Newell, Kathy L. , Rábano‐Gutierrez, Alberto, Oertel, Wolfgang H. , Respondek, Gesine , Stamelou, María , Arzberger, Thomas , Roeber, Sigrun, Müller, Ulrich , Pástor, Pau , Ber, Isabelle Le, Beach, Thomas G. , Litvan, Irene , Rademakers, Rosa , Ross, Owen A. , Boxer, Adam L. , Seeley, Willian W., Lee, Edward B. , Silva, Rohan de , Crary, John F. , Goate, Alison , Friedman, Jeffrey S., Compta, Yaroslau , Coppola, Giovanni , Wang, Li‐San , Group, PSP Genetics Study, Tzeng, Jung‐Ying , Geschwind, Daniel H. , Schellenberg, Gerard D. , Si, Ya-Qin , Mclean, Catriona , Molina-Porcel, Laura , Rajput, Alex , Deyn, Peter Paul De , Le Bastard, Nathalie , Gearing, Marla , Donker Kaat, Laura , Van Swieten, John C , Ghetti, Bernardino F , Troakes, Claire , de Yébenes, Justo G , Meller, Tina , Oertel, Wolfgang H , Respondek, Gesine , Hopfner, Franziska , Pastor, Pau , Brice, Alexis , Dürr, Alexandra , Beach, Thomas G , Serrano, Geidy E , Hazrati, Lili‐Naz , Litvan, Irene , Ross, Owen A , Galasko, Douglas , Boxer, Adam , Miller, Bruce L , Deerlin, Vivianna M. Van , Lee, Edward B , White, Charles L , Morris, Huw R , Crary, John F , Goate, Alison M , Leung, Yuk Yee , Wang, Li-San , Dickson, Dennis W , Höglinger, Günter U , Tzeng, Jung-Ying , Schellenberg, Gerard D , Lee, Wan-Ping , Dombroski, Beth , Farrell, Kurt , McLean, Catriona , Kaat, Laura Donker , Swieten, John C. van , Dopper, Elise G.P. , Ghetti, Bernardino , Troakes, Claire , Müller, Ulrich, Hopfner, Franziska , Brice, Alexis , Ber, Isabelle Le , Serrano, Geidy E. , Galasko, Douglas , Miller, Bruce L. , White, Charles L. , Morris, Huw R. , Naj, Adam Christian , Group, PSP Genetics Study, Dalgard, Clifton L. , Dickson, Dennis W. , Höglinger, Günter U.
Movement Disorders | March 12, 2025 | Volume: 40 | Issue: 5 | Pages: 950-961
AbstractBackgroundThe 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).ObjectiveTo investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.MethodsUtilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.ResultsWe found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with additional copies of γ displayed a higher risk for PSP. The frequency of the risk sub‐haplotype H1c rises from 1% in individuals with two γ copies to 88% in those with eight copies. Additionally, γ duplication up‐regulates expression of ARL17B, LRRC37A/LRRC37A2, and NSFP1, while down‐regulating KANSL1. Single‐nucleus RNA‐seq of the dorsolateral prefrontal cortex analysis reveals γ duplication primarily up‐regulates LRRC37A/LRRC37A2 in neuronal cells.ConclusionsThe copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration
Vandebergh, Marijne , Ramos, Eliana Marisa , Corriveau‐Lecavalier, Nick , Ramanan, Vijay K. , Kornak, John , Mester, Carly , Kolander, Tyler, Brushaber, Danielle , Staffaroni, Adam M. , Geschwind, Daniel H., Wolf, Amy , Kantarci, Kejal, Petrucelli, Leonard , Broeck, Marleen Van den , Wynants, Sarah , Baker, Matthew , Borrego‐Écija, Sergi , Barmada, Sami J. , Darby, R. Ryan , Domoto‐Reilly, Kimiko , Fields, Julie A. , Ghoshal, Nupur , Graff‐Radford, Neill R. , Grant, Ian , Huey, Edward D. , Kwan, Justin , Litvan, Irene , Masdeu, Joseph C. , Mendez, Mario F. , Onyike, Chiadi U. , Pascual, Belén , Pressman, Peter , Ritter, Aaron, Roberson, Erik D. , Snyder, Allison , Sullivan, Anna Campbell, Wint, Dylan , Heuer, Hilary W. , Forsberg, Leah K. , Boxer, Adam L. , Rosen, Howard J. , Rademakers, Rosa , Kantarci, Kejal , Brushaber, Danielle E, Wolf, Amy A, Gendron, Tania F , Van den Broeck, Marleen, Borrego-Écija, Sergi , Appleby, Brian , Barmada, Sami , Bozoki, Andrea C , Darby, Richard Ryan , Dickerson, Bradford Clark , Domoto-Reilly, Kimiko , Fields, Julie A , Galasko, Douglas , Ghoshal, Nupur , Honig, Lawrence S. , Hsiung, Gink-Yuek , Huey, Edward D , Irwin, David J , Knopman, David S. , Kwan, Justin Y., Léger, Gabriel C, Litvan, Irene , Onyike, Chiadi , Pascual, Belen , Pressman, Peter S, Roberson, Erik , Tartaglia, Maria Carmela , Wint, Dylan , Heuer, Hilary W , Forsberg, Leah K , Boxer, Adam , Rosen, Howard J , Boeve, Brad , Rademakers, Rosa , Kantarci, Kejal , Ramanan, Vijay K , Corriveau-Lecavalier, Nick , Snyder, Allison , Vandebergh, Marijne , Mester, Carly , Geschwind, Daniel H. , Gendron, Tania F. , Appleby, Brian S. , Clark, David, Galasko, Douglas , Hsiung, Ging‐Yuek Robin , Irwin, David J. , Knopman, David S. , Léger, Gabriel C. , Masdeu, Joseph C , Boeve, Bradley F.
Neurology | September 25, 2024 | Volume: 103 | Issue: 8 | Pages: No page available
Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration
Saloner, Rowan , Staffaroni, Adam M. , Dammer, Eric B. , Johnson, Erik C. B. , Wise, Amy B. , Heuer, Hilary W. , Forsberg, Leah K. , Lago, Argentina Lario , Webb, Julia D, Kramer, Joel H. , Li, Jingyao , Sivasankaran, Rajeev , Seyfried, Nicholas T. , Yokoyama, Jennifer S. , Grinberg, Lea T. , Ljubenkov, Peter A. , Brushaber, Danielle , Considine, Ciaran , Day, Gregory S. , Faber, Kelley , Geschwind, Daniel H. , Ghoshal, Nupur , Graff‐Radford, Neill R. , Hales, Chadwick M. , Huey, Edward D. , Kornak, John , Lee, Suzee, Mendez, Mario F. , Miyagawa, Toji , Pascual, Belén , Paulson, Henry L. , Petrucelli, Leonard , Ramos, Eliana Marisa , Rascovsky, Katya, Savica, Rodolfo , Snyder, Allison , Sullivan, A. Campbell , Vandebergh, Marijne , Rosen, Howie, Boxer, Adam L. , Casaletto, Kaitlin B. , Staffaroni, Adam M , Hansson, Oskar , Sivasankaran, Rajeev , Yokoyama, Jennifer , Spina, Salvatore , Grinberg, Lea , VandeVrede, Lawren , Brushaber, Danielle , Day, Gregory S , Dickerson, Bradford Clark , Domoto-Reilly, Kimiko , Galasko, Douglas , Geschwind, Daniel , Ghoshal, Nupur , Honig, Lawrence S. , Hsiung, Gink-Yuek , Lapid, Maria I. , Litvan, Irene , Mendez, Mario , Pascual, Belen , Roberson, Erik , Snyder, Allison , Tartaglia, Maria Carmela , Vandebergh, Marijne , Boeve, Brad , Paulson, Henry L , Dammer, Eric B
No container title available | March 28, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract The pathophysiological mechanisms driving disease progression of frontotemporal lobar degeneration (FTLD) and corresponding biomarkers are not fully understood. We leveraged aptamer-based proteomics (> 4,000 proteins) to identify dysregulated communities of co-expressed cerebrospinal fluid proteins in 116 adults carrying autosomal dominant FTLD mutations (C9orf72, GRN, MAPT) compared to 39 noncarrier controls. Network analysis identified 31 protein co-expression modules. Proteomic signatures of genetic FTLD clinical severity included increased abundance of RNA splicing (particularly in C9orf72 and GRN) and extracellular matrix (particularly in MAPT) modules, as well as decreased abundance of synaptic/neuronal and autophagy modules. The generalizability of genetic FTLD proteomic signatures was tested and confirmed in independent cohorts of 1) sporadic progressive supranuclear palsy-Richardson syndrome and 2) frontotemporal dementia spectrum syndromes. Network-based proteomics hold promise for identifying replicable molecular pathways in adults living with FTLD. ‘Hub’ proteins driving co-expression of affected modules warrant further attention as candidate biomarkers and therapeutic targets.