Citations 14
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
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Proceedings of the National Academy of Sciences | August 29, 2023 | Volume: 120 | Issue: 36 | Pages: No page available
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1 *04 subtypes best accounted for the association, strongest with HLA-DRB1 *04:04 and HLA-DRB1 *04:07, and intermediary with HLA-DRB1 *04:01 and HLA-DRB1 *04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1 *04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1 *04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues.
Biphasic cortical macro‐ and microstructural changes in autosomal dominant Alzheimer's disease
Montal, Víctor , Pegueroles, Jordi , Bejanin, Alexandre , Alcolea, Daniel , Carmona‐Iragui, María , Clarimón, Jordi , Xiong, Chengjie , Cruchaga, Carlos , Graff‐Radford, Neill R. , Noble, James M. , Laske, Christoph , Salloway, Stephen , Ances, Beau M. , McDale, Eric, Bateman, Randall J. , Blesa, Rafael , Sánchez‐Valle, Raquel , Fortea, Juan , (DIAN), for the Dominantly Inherited Alzheimer Network, Pegueroles, Jordi , Bejanin, Alexandre , Alcolea, Daniel , Clarimón, Jordi , Schofield, Peter R , Blesa, Rafael , Sánchez-Valle, Raquel , Lleó, Alberto , Fortea, Juan , Cruchaga, Carlos , Bateman, Randall J , Xiong, Chengjie , Ances, Beau M , Vilaplana, Eduard , Lee, Jae‐Hong , Allegri, Ricardo , Karch, Celeste M. , Schofield, Peter R. , Benzinger, Tammie L.S. , Lleó, Alberto , (DIAN), for the Dominantly Inherited Alzheimer Network, Noble, James M
Alzheimer's & Dementia | November 16, 2020 | Volume: 17 | Issue: 4 | Pages: 618-628
Abstract INTRODUCTION A biphasic model for brain structural changes in preclinical Alzheimer's disease (AD) could reconcile some conflicting and paradoxical findings in observational studies and anti‐amyloid clinical trials. METHODS In this study we tested this model fitting linear versus quadratic trajectories and computed the timing of the inflection points vertexwise of cortical thickness and cortical diffusivity—a novel marker of cortical microstructure—changes in 389 participants from the Dominantly Inherited Alzheimer Network. RESULTS In early preclinical AD, between 20 and 15 years before estimated symptom onset, we found increases in cortical thickness and decreases in cortical diffusivity followed by cortical thinning and cortical diffusivity increases in later preclinical and symptomatic stages. The inflection points 16 to 19 years before estimated symptom onset are in agreement with the start of tau biomarker alterations. DISCUSSION These findings confirm a biphasic trajectory for brain structural changes and have direct implications when interpreting magnetic resonance imaging measures in preventive AD clinical trials.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Brain | August 31, 2018 | Volume: 141 | Issue: 10 | Pages: 2895-2907
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry
Lewczuk, Piotr , Riederer, Peter , Verbeek, Marcel M. , Dubois, Bruno , Visser, Pieter Jelle , Engelborghs, Sebastiaan , Ramı́rez, Alfredo , Parnetti, Lucilla , Jack, Clifford R. , Teunissen, Charlotte E. , Hampel, Harald , Lleó, Alberto , Jessen, Frank , Glodzik, Lidia , Leon, Mony J. de , Fagan, Anne M. , Molinuevo, José Luís , Jansen, Willemijn J. , Winblad, Bengt , Shaw, Leslie M. , Andréasson, Ulf , Otto, Markus , Mollenhauer, Brit , Wiltfang, Jens , Turner, Martin R. , Zerr, Inga , Handels, Ron , Thompson, Alexander G. , Johansson, Gunilla , Ermann, Natalia, Trojanowski, John Q. , Karaca, Ilker, Wagner, Holger, Oeckl, Patrick , Doorn, Linda van Waalwijk van, Bjerke, Maria , Kapogiannis, Dimitrios , Kuiperij, H. Bea , Farotti, Lucia , Li, Yi , Gordon, Brian A. , Vos, Stephanie J. B. , Klijn, Catharina J.M. , Nostrand, William E. Van , Schmitz, Matthias , Gallo, Carla , Mato, Andrea Lopez, Thibaut, Florence , Lista, Simone , Alcolea, Daniel , Blennow, Kaj , Kornhuber, Johannes , Thibaut, on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence, Verbeek, Marcel M , Ramirez, Alfredo , Parnetti, Lucilla , Jack, Clifford R , Lleó, Alberto , Handels, Ron , Thompson, Alexander G , Trojanowski, John Q , Gordon, Brian A , Thibaut, Florence , Alcolea, Daniel , Kornhuber, Johannes , Teunissen, Charlotte E , Turner, Martin R , Molinuevo, José Luis , O’Bryant, Sid E. , Jellinger, Kurt , Doorn, Linda Josephine Christine van Waalwijk van, Epelbaum, Stéphane , Minguillón, Carolina , Zetterberg, Henrik , Thibaut, on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence, Wiltfang, Jens , Otto, Markus
The World Journal of Biological Psychiatry | October 27, 2017 | Volume: 19 | Issue: 4 | Pages: 244-328