Evaluating MAPT p.A152T as a risk factor for the 3R tauopathy Pick’s disease

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ID: 320229
2026
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Abstract
Abstract Genetic studies have significantly advanced our understanding of tauopathies, yet the genetic etiology of Pick’s disease, a rare 3-Repeat tauopathy, remains unclear. The MAPT p.A152T variant has been identified as a risk factor for Alzheimer’s disease and progressive supranuclear palsy, but its role in Pick’s disease is unknown. In this study, we examined the prevalence of MAPT p.A152T in the largest series of neuropathologically confirmed Pick’s disease cases to date (n=401). Through genotyping, we identified a single mutation carrier in the Pick’s disease cohort (Minor Allele Frequency = 0.12%). We previously reported MAPT p.A152T at a 0.20% frequency in healthy controls (n=2,456), suggesting it does not associate with 3-Repeat tauopathy risk. To further investigate the effect of the variant on MAPT transcript expression, we used bulk RNA sequencing in Alzheimer’s disease and progressive supranuclear palsy A152T mutation carriers. We did not detect significant differences in 4-Repeat tau levels, though preliminary trends may indicate more nuanced effects that need to be examined with long-read sequencing in a larger series. Overall, our study suggests that MAPT p.A152T does not increase Pick’s disease risk and may instead be linked to 4-Repeat or mixed tau pathologies, warranting further functional investigation.
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Authors Nicole Tamvaka, William J. Scotton, Meredith T. Lilley, Maryam Shoai, Marios Gavrielatos, M HECKMAN, Alexandra I. Soto‐Beasley, Shanu F Roemer, Matthew C Baker, Rosa Rademakers, Melissa E. Murray, Dennis W. Dickson, John Hardy, Casey Cook, Jonathan D. Rohrer, Owen A. Ross, Rebecca R. Valentino, Tammaryn Lashley, Hannah Macpherson, Thomas T. Warner, Zane Jaunmuktane, Alejandro Martínez-Carrasco, Kin Mok, Tamas Revesz, Elizabeth Christopher, Michael DeTure, Shunsuke Koga, Neill R Graff-Radford, Bradley F Boeve, Keith A. Josephs, Ronald C Petersen, Jennifer Whitwell, Ranjan Duara, Kelly E Lyons, Rajesh Pahwa, Lea T. Grinberg, William W. Seeley, Bruce Miller, Athena Schlereth, Salvatore Spina, David J Irwin, David A Wolk, EunRan Suh, Vivianna M Van Deerlin, Edward B Lee, Matthew P. Frosch, Theresa R. Connors, Derek H. Oakley, Laura Molina-Porcel, Iban Aldecoa, Mircea Balasa, Sergi Borrego-Ecija, Raquel Sanchez-Valle, Jordi Gascón‐Bayarri, Pilar Sanz-Cartagena, Gerard Piñol‐Ripoll, Rosa Maria de Eugenio Huélamo, Ellen Gelpí, Tamar Gefen, Rudolph J Castellani, Margaret E. Flanagan, Emily Rogalskı, Sandra Weıntraub, Julie A. Schneider, Kevin F Bieniek, Xiongwei Zhu, Javier Redding-Ochoa, Koping Chang, Juan C. Troncoso, Stefan Prokop, Bernardino Ghetti, Kathy L. Newell, Max Jacobsen, Andrew Robinson, Federico Roncaroli, Christopher Kobylecki, Matthew Jones, Anna Richardson, Julie Snowden, James B. Rowe, Annelies Quaegebeur, Kieren Allinson, Thomas G Beach, Geidy E. Serrano, Andrew F Teich, Xena Flowers, Allison C Heaps, Sandra Leskinen, Julia Keith, Sandra E. Black, Mario Masellis, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M. Halliday, John R. Hodges, Jillian J. Kril, John B. Kwok, Olivier Piguet, Marla Gearing
Journal Brain communications
Year 2026
DOI
10.1093/braincomms/fcag266
URL
https://doi.org/10.1093/braincomms/fcag266
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