Back to Authors

Bjerke, Maria

0000-0002-9575-6462

Mayo Clinic

Vrije Universiteit Brussel

Citations 8

Clinical application and reporting of neurofilament quantification in neuropsychiatric disorders: an international overview
Yriarte, Jose, Zecca, Chiara, Logroscino, Giancarlo, Koertvelyessy, Peter, Tumani, Hayrettin, Olsen, Dorte Aalund , Alcolea, Daniel, Blennow, Kaj, Fortea, Juan M., Lleó, Alberto, Santos, Gustavo A A, Borelli, Wyllians Vendramini, Amar, Elodie Bouaziz, Bigot‐Corbel, Edith, Bjerke, Maria , Pérez, Mercedes Carretero, Chabrashvili, Tinatin, Chapman, Miles, Cusato, J, Fourier, Anthony , Galimberti, Daniela, Gezen‐Ak, Duygu, Florez, Silvia de las Heras, Sánchez, Juan José Hernández, Imperiale, Daniela, Kaczorowski, Flora, Khalil, Michael, Kuhle, Jens, Lewczuk, Piotr, Tsolaki, Magda, Blanc, M, Mroszko, Barbara, Rodríguez‐Álvarez, Jose, Kulczynska‐Przybik, Agnieszka, Nogueira, Léonor, Paquet, Claire, Baiardi, Simone, Parnetti, Lucilla, Garay, Raquel Perez, Quillard‐Muraine, Muriel, Borja, Enrique Rodriguez, Schraen‐Maschke, Susanna, Terracciano, Daniela , Bachhuber, Franziska , Tzartos, Socrates, Tzartos, John , Unterwalder, Nadine, Vermunt, Lisa, Zetterberg, Henrik, Teunissen, C., Lehmann, Sylvain , Delaby, Constance , Ladang, Aurélie , Zecca, Chiara, Logroscino, Giancarlo , Köertvelyessy, Pèter, Tumani, Hayrettin , Parchi, Piero , Quadrio, Isabelle , Hart, Melanie , Alcolea, Daniel , Blennow, Kaj , Fortea, Juan , Lleó, Alberto , Algeciras‐Schimnich, Alicia , Ayrignac, Xavier , Bedel, Aurélie , Borelli, Wyllians Vendramini , Bouaziz-Amar, Élodie , Baldeiras, Inês , Bigot‐Corbel, Edith , Casoli, Tiziana , Chabrashvili, Tinatin, Cusato, Jessica , Dursun, Erdinç , Galimberti, Daniela , Gezen‐Ak, Duygu , Gordon, Brian A. , Gouju, Julien , Flórez, Silvia de las Heras , Herwerth, Marina , Kasuga, Kensaku , Keshavan, Ashvini , Khalil, Michael , Kühle, Jens , Leithner, Christoph , Lewczuk, Piotr , Letournel, Franck , Tsolaki, Magda , Giuffrè, Guido Maria , Rodrı́guez-Álvarez, José , Musso, Giulia , Kulczyńska‐Przybik, Agnieszka , Paquet, Claire , Baiardi, Simone , Gaetani, Lorenzo , Parnetti, Lucilla , Poesen, Koen , Schraen‐Maschke, Susanna , Halbgebauer, Steffen , Tzartos, S J, Vermunt, Lisa , Wellington, Cheryl L. , Zetterberg, Henrik, Teunissen, Charlotte E. , Lehmann, Sylvain

Alzheimer's & Dementia | December 25, 2025 | Volume: 21 | Issue: S2 | Pages: No page available

10.1002/alz70856_104274 Get It

Abstract Background The quantification of Neurofilament Light chain (NfL) in blood and cerebrospinal fluid (CSF) has proven valuable for diagnosing and prognosing various neurological disorders, including Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, parkinsonism, multiple sclerosis, and ischemic damage. However, there is considerable variability in clinical and laboratory practices between centers, primarily due to different contexts of use (COU), analytical methods, and the application of cutoffs or scales. Additionally, for the same biochemical profile, the interpretation and reporting of results may vary from one center to another, raising concerns about the commutability of the tests. To date, no consensus has been reached among laboratories to define the most appropriate use of cutoffs or conclusions/comments based on NfL profiles. Method This international project involves 38 laboratories across 18 countries, all specialized in the biochemical diagnosis of neurological disorders. Using a questionnaire, we obtained descriptions from each center regarding their COU, pre‐analytical and analytical protocols (including the biological fluid and methods used to quantify NfL). Through a consensus approach, we developed a harmonized strategy for the use and reporting of NfL results across different centres according to their respective COU. Results Among the centers, 63% quantified NfL in the CSF, 87% in blood and 53% in both fluids. COU were as follow: frontotemporal dementia (71%), Alzheimer disease (71%), multiple sclerosis (61%), amyotrophic lateral sclerosis (61%), psychiatric syndrome (45%), Creutzfeldt‐Jakob disease (32%), Parkinson disease (39%), peripheral neuropathy (29%), traumatic brain injury (21%), Huntington's disease (13%), amyloid transthyretin related (11%) and cardiac arrest (8%). Most of the centers define pathological cutoffs based on publications (50%) and take age into account for this purpose (42%). Reporting is mostly transmitted through numeric results (95%). Conclusion Harmonizing cutoffs, reporting, and interpretation across various clinical contexts will facilitate the incorporation of this biomarker into routine clinical practice.
Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview
Delaby, Constance , Martinez‐Yriarte, Jose, Zecca, Chiara , Körtvelyessy, Péter , Tumani, Hayrettin , Quadrio, Isabelle , Hart, Melanie , Olsen, Dorte Aalund , Alcolea, Daniel, Blennow, Kaj , Bouaziz-Amar, Élodie , Baldeiras, Inês , Bigot‐Corbel, Edith , Bjerke, Maria , Perez, Mercedes Carretero, Chabrashvili, Tinatin, Chapman, Miles, Fourier, Anthony , Galimberti, Daniela , Gezen‐Ak, Duygu , Gouju, Julien , Flórez, Silvia de las Heras , Sanchez, Juanjo Hernandez, Herwerth, Marina , Imperiale, Daniele , Kaczorowski, Flora, Keshavan, Ashvini , Leithner, Christoph , Blanc, M, Rodríguez, Jose Enrique Martínez, Musso, Giulia , Nogueira, Léonor, Garay, Raquel Perez, Quillard‐Muraine, Muriel, Borja, Enrique Rodriguez, Schraen, Susanna, Terracciano, Daniela , Bachhuber, Franziska , Tzartos, Socrates J., Tzartos, John , Unterwalder, Nadine, Lehmann, Sylvain , Keshavan, Ashvini , Galimberti, Daniela , Herwerth, Marina , Ladang, Aurélie , Logroscino, Giancarlo , Tumani, Hayrettin , Parchi, Piero , Alcolea, Daniel , Fortea, Juan , Lleó, Alberto , Algeciras‐Schimnich, Alicia , Ayrignac, Xavier , Bedel, Aurélie , Santos, Gustavo Alves Andrade dos , Borelli, Wyllians Vendramini , Perez, Mercedes Carretero, Casoli, Tiziana , Cusato, Jessica , Dursun, Erdinç , Gordon, Brian A. , Sanchez, Juanjo Hernandez, Kasuga, Kensaku , Khalil, Michael , Kühle, Jens , Lewczuk, Piotr , Letournel, Franck , Tsolaki, Magda , Giuffrè, Guido Maria , Mroczko, Barbara , Kulczyńska‐Przybik, Agnieszka , Paquet, Claire , Baiardi, Simone , Gaetani, Lorenzo , Parnetti, Lucilla , Poesen, Koen , Halbgebauer, Steffen , Vermunt, Lisa , Wellington, Cheryl L. , Zetterberg, Henrik , Teunissen, Charlotte E.

Alzheimer's & Dementia | June 23, 2025 | Volume: 21 | Issue: 6 | Pages: No page available

10.1002/alz.70343 Get It

Abstract INTRODUCTION Neurofilament light chain (NfL) quantification aids in diagnosing and predicting neurological disorders, but clinical and laboratory practices vary across centers. Differences in result interpretation and reporting further challenge test commutability. This study aimed to review the global analytical and post‐analytical methods used for NfL measurement in routine clinical practice across different contexts. METHODS We established an international working group (WG) and distributed a survey to its members to gather information on context of use (COU), (pre) analytical methods, cutoff usage, as well as the interpretation and reporting of NfL measurements. RESULTS Among the centers, 63% measured NfL in cerebrospinal fluid (CSF), 87% in blood, and 53% in both. COU was widespread, with 50% defining pathological cutoffs based on publications and 42% considering age. Reporting was primarily done through numeric results (95%). DISCUSSION Harmonizing cutoffs, reporting, and interpretation across various clinical contexts will facilitate the incorporation of this biomarker into routine clinical practice. Highlights Unique international overview of current analytical and post‐analytical methods for neurofilament light chain (NfL) measurement in routine clinical practice. Tailored sheets for each neurological application. Strategies to harmonize cutoffs, reporting, and interpretation of NfL's measurement.
International Initiative for Harmonization of Plasma Neurofilament light chain NfL clinical reporting in neurodegenerative diseases
Olsen, Dorte Aalund , Alcolea, Daniel, Bigot‐Corbel, Edith , Bjerke, Maria , Perez, Mercedes Carretero, Chabrashvili, Tinatin, Chapman, Miles, Fourier, Anthony , Kaczorowski, Flora, Köertvelyessy, Pèter, Blanc, M, Mroszko, Barbara, Nogueira, Léonor, Garay, Raquel Perez, Quillard‐Muraine, Muriel, Borja, Enrique Rodriguez, Schraen, Susanna, Terracciano, Daniela , Tzartos, Socrates J., Unterwalder, Nadine, Yriarte, Jose, Blennow, Kaj , Delaby, Constance , Teunissen, Charlotte E. , Alcolea, Daniel , Lleó, Alberto , Algeciras‐Schimnich, Alicia , Santos, Gustavo Alves Andrade dos , Bouaziz-Amar, Élodie , Ayrignac, Xavier , Baldeiras, Inês , Perez, Mercedes Carretero, Casoli, Tiziana , Cusato, Jessica , Dursun, Erdinç , Galimberti, Daniela , Gezen‐Ak, Duygu , Gordon, Brian A. , Hart, Melanie , Herwerth, Marina , Kasuga, Kensaku , Keshavan, Ashvini , Khalil, Michael , Kühle, Jens , Ladang, Aurélie , Lewczuk, Piotr , Logroscino, Giancarlo , Tsolaki, Magda , Giuffrè, Guido Maria , Musso, Giulia , Kulczyńska‐Przybik, Agnieszka , Paquet, Claire , Parchi, Piero , Parnetti, Lucilla , Poesen, Koen , Quadrio, Isabelle , Tumani, Hayrettin , Vermunt, Lisa , Wellington, Cheryl L. , Zetterberg, Henrik , Lehmann, Sylvain

Alzheimer's & Dementia | January 9, 2025 | Volume: 20 | Issue: S2 | Pages: No page available

10.1002/alz.090643 Get It

AbstractBackgroundThe quantification of neurofilament light chain (NfL) in blood and cerebrospinal fluid (CSF) has proved useful in many contexts, for the diagnosis and prognosis of various neurological disorders. There is, however, a diversity of practices between centers, essentially linked to the context of use (COU), analytical methods, consideration of comorbidities, determination of cut‐points or use of interpretation scales. Finally, for the same biochemical profile, the interpretation and reporting of results may differ from one center to another, raising the question of test commutability. To date, no consensus has been reached between the different laboratories involved to define the most appropriate conclusions/comments based on COU and cut‐points. This work is an essential step towards consensual harmonization of the clinical use of NfL after CSF and/or blood analysis in various neurological contexts, as advocated by the Alzheimer's Association "Biofluid Based Biomarkers PIA" working group.MethodThis international project involves 58 clinical laboratories in 16 countries, specializing in the biochemical diagnosis of neurological disorders. By means of a questionnaire, we obtained a description of the COU, pre‐analytical and analytical (biological fluid and method used to quantify NfL) protocols of all the centers involved.ResultsOf the centers, 42% quantified NfL in CSF, 29% in serum and 28% in plasma, and 1% in dried blood spot. The COUs were as follows: Frontotemporal dementia (FTD, 17%), Alzheimer's disease (AD, 16%), multiple sclerosis (MS, 16%), amyotrophic lateral sclerosis (ALS, 11%), psychiatric syndrome (PS, 10%), Creutzfeldt‐Jakob disease (CJD, 8%), Parkinson's disease (PD, 8%), peripheral neuropathy (PN, 7%) and traumatic brain injury (TBI, 7%). Most centers define pathological cut‐points based on published literature and take age into account (50%).ConclusionOur initial results highlight the state of the art in terms of the clinical use of NfL analysis in CSF and blood in the context of different neurological diseases. We have now defined a coordinator for each COU subgroup and are organizing consensus meetings to harmonize the use and reporting of NfL measurements for the identified clinical applications. The results of these next steps will be presented.
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
Guen, Yann Le , Luo, Guo , Damotte, Vincent , Jansen, Iris E. , Nicolas, Aude , Rojas, Itziar de, Bellenguez, Céline , Lian, Michelle Mulan , Parveen, Kayenat, Morizono, Takashi, Park, Hyeonseul, Grenier‐Boley, Benjamin , Naito, Tatsuhiko , Talyansky, Seth D., Yogeshwar, Selina , Sempere, Vicente Peris, Satake, Wataru , Álvarez, Victoria , Arosio, Beatrice , Boland, Anne , Daniele, Antonio , Darling, D.H., Dichgans, Martin , Dufouil, Carole , Düzel, Emrah , García‐Ribas, Guillermo, García‐Alberca, José María , García-González, Pablo, Giedraitis, Vilmantas , Graff, Caroline , Grünblatt, Edna , Hausner, Lucrezia , Jung, Yoo Jin , Deckert, Jürgen, Kern, Silke , Kuulasmaa, Teemu , Lee, Kun Ho , Lin, Ling , Masullo, Carlo , Mehrabian, Shima , Mendonça, Alexandre de , Boada, Merçé , Mir, Pablo , Moreno, Fermín , Nicolas, Gaël , Niida, Shumpei , Nordestgaard, Børge G. , Papenberg, Goran, Papma, Janne M., Pástor, Pau , Peters, Oliver , Popp, Julius , Molina‐Porcel, Laura , Puerta, Raquel , Pérez‐Tur, Jordi , Ramakers, Inez H.G.B. , Real, Luís Miguel , Riedel‐Heller, Steffi G. , Rodríguez‐Rodríguez, Eloy , Ross, Owen A. , Scarmeas, Nikolaos , Schneider, Anja , Solfrizzi, Vincenzo , Spalletta, Gianfranco , Tan, Eng‐King , Tegos, Thomas, Thomassen, Jesper Qvist , Tremolizzo, Lucio , Verhey, Frans, EADB, group, GR@ACE study, DemGene, EADI, GERAD, Blennow, Kaj , He, Zihuai , Jessen, Frank , Kehoe, Patrick G. , Duin, Cornelia van, Sánchez‐Juan, Pascual , Zettergren, Anna , Okada, Yukinori , Rossi, Giacomina, Gim, Jungsoo , Sims, Rebecca, Ramı́rez, Alfredo , Lambert, Jean‐Charles , Greicius, Michael D. , Mignot, Emmanuel , Moreno–Grau, Sonia , Rojas, Itziar de, Prokic, Ivana, Aarsland, Dag, García‐González, Pablo , Abdelnour, Carla , Armstrong, Nicola J. , Anthoula, Tsolaki, Archetti, Silvana, Pastor, Alfonso Arias, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa , Baquero, Miquel , Pastor, Ana Belén , Besse, Céline , Bizarro, Alessandra, Blesa, Rafael , Bossù, Paola , Brusco, Luis Ignacio , Buiza‐Rueda, Dolores, Bürger, Katharina , Burholt, Vanessa, Cecchetti, Roberta, Chillotti, Caterina , Ciccone, Simona, Claassen, Jurgen A.H.R., Clark, Christopher , Costantini, Emanuele Maria , Daian, Delphine , Dartigues, Jean‐François, Escott-Price, Valentina, Ewers, Michael , Fernández‐Fuertes, Marta , Ferreira, Catarina B. , Fin, Bertrand, Fließbach, Klaus , Franco-Macías, Emlio, García-González, Pablo, García‐Madrona, Sebastián, Giegling, Ina, Giorgio, Giaccone, González-Pérez, Antonio, Grande, Giulia , Green, Emma , Grimmer, Timo, Hardy, John, Hartmann, Annette M. , Harwood, Janet , Helisalmi, Seppo , Hernández, Isabel, Hoffmann, Per, Vilas, Raquel Huerto, Hulsman, Marc , Johansson, Charlotte , Kilander, Lena, Ståhlbom, Anne Kinhult, Koivisto, Anne M. , Lage, Carmen , Lerch, Ondřej , Munain, Adolfo Lopez de, Löwemark, Malin, Luckcuck, Lauren, Maier, Wolfgang, Marco, Spallazzi, Montes, Ángel Martín, Rodríguez, Carmen Martínez, Meggy, Alun, Mendoza, Silvia, Moebus, Susanne, Morelli, Laura , Möthen, Markus M., Muchnik, Carolina , Orsini, Michela, Péricard, Pierre , Piñol-Ripoll, Gerard, Polak, Thomas, Quenez, Olivier , Rábano, Alberto , Ramakers, Inez, Riederer, Peter, Rongve, Arvid, Allende, Irene Rosas, Rujescu, Dan, Sakka, Paraskevi , Sánchez‐Arjona, María Bernal, Sando, Sigrid Botne , Scamosci, Michela, Scherbaum, Norbert, Scherer, Martin, Schott, Jonathan M., Shadrin, Alexey A, Skrobot, Olivia Anna, Solfrizzi, Vincenzo, Spottke, Annika , Stordal, Eystein , Tartan, Juan Pablo, Traykov, Latchezar , Tybjærg‐Hansen, Anne, Ullgren, Abbe, Ulstein, Ingun, Dongen, Jasper Van , Wallon, David, Windle, Gill, Woods, Bob , Zulaica, Miren , Laczó, Jan , Maťoška, Václav , Piras, Federica, Ciullo, Valentina , Shofany, Jacob, Andreoni, Simona, Zompo, Maria Del, Bastiani, Patrizia, Natunen, Teemu , Antikaínen, Riitta , Abraham, Richard, Al-Chalabi, Ammar, Brayne, Carol, Brown, Kristelle S., Collinge, John, Craig, David W. , Deloukas, Pangiotis, Gerrish, Amy, Gwilliam, Rhian, Hardy, John , Hollingworth, Paul, Johnston, Jarret A., Jones, Lesley , Lawlor, Brian, Lynch, Aoibhinn, McQuillin, Andrew, Owen, Michael J., Passmore, Peter , Proitsi, Petra, Rossor, Martin, Gurling, Hugh, Todd, Stephen, Mummery, Catherine J. , Ryan, Nathalie, Lacidogna, Giordano , Adarmes-Gómez, Ad, Mauleón, Ana , Pancho, Ana, Gailhajenet, A., Lafuente, Asunción, Martín, Elvira, Pelejà, Esther, Carrillo, F, Merlín, Isabel Sastre, Garrote-Espina, L. , Carrión‐Claro, Mario, Marín, María Esmeralda Arreola , Labrador, Ma, Buendía, Mar, Guitart, Marina, Moreno, Mariona, Ibarria, Marta, Periñán, Mt, Aguilera, Núria , Gómez-Garre, P, Escuela, R, Pineda-Sanchez, R., Vigo-Ortega, R, Preckler, Sílvia , Rodrigo‐Herrero, Silvia , Diego, Susana, Salvadori, Nicola, Chipi, Elena , Laske, Christoph , Janowitz, Daniel , Anastasiou, Anna, Parveen, Kayenat, López‐García, Sara , Antonell, Anna , Belezhanska, Diyana , Solís, Patricia , Medel, Nancy , Lisso, Julieta, Sevillano, Zulma, Politis, Daniel Gustavo , Cores, Valeria, Cuesta, Carolina , Ortíz, Cecilia, Bacha, Juan Ignacio, Rios, Mario, Saenz, Aldo, Abalos, Mariana Sanchez, Köhler, Eduardo, Palacio, Dana Lis, Etchepareborda, Ignacio, Prestia, Federico Ariel, Galeano, Pablo , Castaño, Eduardo M., Germani, Sandra, Toso, Carlos Reyes, Rojo, Matias, Ingino, Carlos A. , Mangone, Carlos A., Engelborghs, Sebastiaan , Nielsen, Sune Fallgaard, Farotti, Lucia , Biessels, Geert Jan , Fiévet, Nathalie, Forsell, Charlotte , Thonberg, Håkan, Bjerke, Maria , Roeck, Ellen De , Olivar, Natividad , Sachdev, Perminder S. , Magda, Tsolaki, Rossi, Giacomina, Andreassen, Ole A., Sims, Rebecca , Aguilera, N., Alarcón, Estefanía Burgos, Buendia, Marie‐Annick , Rojas, Itziar de , Diego, S. , Guitart, M., González-Péerez, A, Lafuente, A., Martin, Elisabeth , Martinez, M.T.M., Marquié, M, Olivé, C. , Pelejà, E., Puerta, R, Sáez, ME, Táarraga, L, Valero, S, Alonso, MD, Amer-Ferrer, G., Antequera, M., Antúnez, Carmen , Bernal, M. , Bullido, MJ, Ja, Burguera, Carrillo, F, Casajeros, MJ, Cruz-Gamero, JM, Escuela, R, Franco, Emilio, García-Alberca, JM, Madrona, S. García, Gómez-Garre, P, Hevilla, S., Espinosa, MA Labrador, Legaz, A. , Lleóo, A, Munáin, A Lóopez de, Marín-Muñoz, Juan, Marín, T, Marquié, M, Martínez, B. , Álvarez, A Martínez-Lage, Iriarte, M Mendioroz, Tur, J Péerez, Ripoll, G. Piñol, Ráabano, A, Asúa, Diego Real de , Rodrigo, S., Royo, JL, Díaz, R. Sanchez del Valle, Sánchez‐Juan, Pascual, Sastre, Isabel , Valero, S, Vicente, MP, Vigo-Ortega, R, Shadrin, Alexey A, Rongve, Arvid, Bosnes, Ingunn , Athanasiu, Lavinia, Aarsland, Dag, Andreassen, Ole A., Epelbaum, Jacques, Wallon, David, Hannequin, Didier , Campion, Dominique , Dermecourt, Vincent, Dubois, Bruno , Amouyel, Phillippe, Sims, Rebecca, Gerrish, Amy, Thomas, Charlene , Meggy, Alun, Davies, Chloe, Dowzell, Kimberley, Bernardo-Harrington, Mateus, Hoffmann, Per, Brown, Kristelle, Schott, Jonathan M., Rossor, Martin, Ryan, Natalie S. , Uphill, James, Al-Chalabi, Ammar, Bass, Nick, Abraham, Richard, Kölsch, Heike, Schürmann, Britta, Lacour, ndré, Herold, Christine, Johnston, Janet, Todd, Stephen, Proitsi, Petra, Patel, Yogen, Warden, Donald, Wilcock, Gordon , Clarke, Robert , Lawlor, Brian, McQuillin, Andrew, Hardy, John, Brayne, Carol, Deloukas, Panagiotis, Sussams, Rebecca, Warner, Nick, Bayer, Anthony, Singleton, Andrew, Rujescu, Dan, Giegling, Ina, Klopp, Norman, Mayhaus, Manuel, Riemenschneider, Matthias, Pinchler, Sabrina, Feulner, Thomas, Bussche, Hendrik den, Scherer, Martin, Hüll, Michael, Frölich, Lutz, Wichmann, H‐Erich, Jöckel, Karl‐Heinz , Moebus, Susanne, Kauwe, John, Mayo, Kevin H. , Escott-Price, Valentina, Peng, Rong , Tan, Louis, Tandiono, Moses , Ng, Ebonne, Prakash, Kumar‐M., Au, Wing‐Lok , Meah, Wee-Yang, Mok, Shi Qi, Chan, Anne , Chen, Ling , Jeon, Beom S., Lin, Juei‐Jueng , Pei, Zhong , Shi, Changhe , Song, Kyuyoung, Wu, Yih‐Ru , Xu, Yuming , Yan, Yaping , Yang, Jing , Zhang, Bao Rong, Le Guen, Yann , Damotte, Vincent , During, Emmanuel , Hort, Jakub , Lin, Ling , Niida, Shumpei , Pasquier, Florence , Real, Luis M , Rujescu, Dan , Spalletta, Gianfranco , Zetterberg, Henrik , Andreassen, Ole A , Tsolaki, Magda , Foo, Jia Nee , Mignot, Emmanuel , Dichgans, Martin , Ramirez, Alfredo , Ross, Owen A , Sachdev, Perminder S , Hardy, John , Nicolas, Gaël , Alvarez, Victoria , Mir, Pablo , Pastor, Pau , Boada, Merce , García-González, Pablo , Molina-Porcel, Laura , de Mendonça, Alexandre , Graff, Caroline , Ambati, Aditya , Yu, Eric , Rojas, Itziar de, Leal, Thiago Peixoto , Miyashita, Akinori , Küçükali, Fahri , Belloy, Michaël E. , Benussi, Luisa , Borroni, Barbara , Bullido, María J. , Caffarra, Paolo , Clarimón, Jordi , Darling, Daniel, Debette, Stéphanie , Deleuze, Jean‐François , Galimberti, Daniela , García-González, Pablo, Goldhardt, Oliver , Hanon, Olivier , Heilmann‐Heimbach, Stefanie , Holstege, Henne H. , Hort, Jakub , Mecocci, Patrizia , Moebus, Susanne , Nacmias, Benedetta , Parnetti, Lucilla , Pasquier, Florence , Pijnenburg, Yolande A.L. , Piñol‐Ripoll, Gerard , Rainero, Innocenzo , Royo, José Luís , Scheltens, Philip , Scherbaum, Norbert , Seripa, Davide , Skoog, Ingmar , Squassina, Alessio , Swieten, John C. van , Sánchez‐Valle, Raquel , Teunissen, Charlotte E. , Vyhnálek, Martin , Wærn, Margda , Wiltfang, Jens , Zhang, Jing , EADB, group, GR@ACE study, DemGene, EADI, GERAD, Zetterberg, Henrik , Williams, Julie , Amouyel, Philippe , Tsolaki, Magda , Frikke-Schmidt, Ruth , Sleegers, Kristel , Toda, Tatsushi , Ingelsson, Martin , Rossi, Giacomina, Hiltunen, Mikko O. , Ozaki, Kouichi , Sims, Rebecca, Foo, Jia Nee , Flier, Wiesje M. van der , Ikeuchi, Takeshi , Mata, Ignácio F. , Ruiz, Agustı́n , Gan‐Or, Ziv , Andrade, Víctor , Amin, Najaf , Campos-Martín, Rafael , Holmans, Peter , Kleineidam, Luca , Lee, Sven J. van der , Rojas, Itziar de, Yaqub, Amber , Prokic, Ivana, Costa, Marcos R. , Chapuis, Julien , Ahmad, Shahzad , Aarsland, Dag, Alarcón‐Martín, Emilio , Alcolea, Daniel , Alegret, Montserrat , Álvarez, Ignacio , Appollonio, Ildebrando Marco , Arcaro, Marina , Athanasiu, Lavinia, Berr, Claudine , Bessi, Valentina , Binetti, Giuliano , Boschi, Silvia , Bråthen, Geir , Bresner, Catherine , Brodaty, Henry , Brookes, Keeley J. , Burholt, Vanessa, Calero, Miguel , Chêne, Geneviève , Carracedo, Ángel , Cervera‐Carles, Laura , Charbonnier, Camille , Claassen, Jurgen A.H.R. , Conti, Elisa , Corma‐Gómez, Anaïs , Custodero, Carlo , Dalmasso, Carolina , Dardiotis, Efthimios , Deyn, Peter Paul De , Ser, Teodoro del , Denning, Nicola , Diehl‐Schmid, Janine , Díez-Fairén, Mónica , Rossi, Paolo Dionigi , Djurovic, Srdjan , Duron, Emmanuelle , Escott-Price, Valentina, Espinosa, Ana , Ferri, Evelyn , Fischer, Peter A. , Fladby, Tormod , Fortea, Juan , Fostinelli, Silvia , Fox, Nick C. , Frank, Ana , Froelich, Lutz , García-González, Pablo, Ghidoni, Roberta , Giegling, Ina, Grimmer, Timo , Guetta‐Baranes, Tamar , Haapasalo, Annakaisa , Hadjigeorgiou, Georgios M. , Hampel, Harald , Hardy, John, Heneka, Michael T. , Hernández, Isabel, Herrmann, Martin J. , Hoffmann, Per, Holmes, Clive , Kivipelto, Miia , Kornhuber, Johannes , Kosmidis, Mary H. , Laukka, Erika J. , Lauria, Alessandra , Lehtisalo, Jenni , Lleó, Alberto , Munain, Adolfo Lopez de, Macías, Juan, MacLeod, Catherine Anne , Mangialasche, Francesca , Marquié, Marta , Marshall, Iain James , Mead, Simon , Medina, Miguel , Meggy, Alun, Menéndez‐González, Manuel , Moebus, Susanne, Mol, Merel O. , Montrreal, Laura , Morgan, Kevin , Ngandu, Tiia , Olaso, Robert , Orellana, Adelina , Ortega, Gemma , Padovani, Alessandro , Pérez‐Cordón, Alba , Pineda, Juan Antonio , Piñol-Ripoll, Gerard, Pisanu, Claudia , Posthuma, Daniëlle , Priller, Josef , Quintela, Inés , Reinders, Marcel J. T. , Roberto, Natalia , Rongve, Arvid, Rosende‐Roca, Maitée , Rubino, Elisa , Rujescu, Dan, Sáez, María Eugenia , Saltvedt, Ingvild Tina , Sanabria, Ángela , Sánchez-García, Florentino , Scarpini, Elio , Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias C. , Schott, Jonathan M., Selbæk, Geir , Shadrin, Alexey A, Soininen, Hilkka S. , Solfrizzi, Vincenzo, Solomon, Alina , Sorbi, Sandro , Sotolongo‐Grau, Óscar , Tárraga, Lluís , Tesi, Niccoló , Thalamuthu, Anbupalam , Uitterlinden, André G. , Valero, Sergi , Lugt, Aad van der , Rooij, Jeroen van , Vandenberghe, Rik , Vidal, Jean‐Sébastien , Vogelgsang, Jonathan S. , Wagner, Michael , Wallon, David , Weinhold, Leonie , Yannakoulia, Mary , Serpente, María , Assogna, Francesca , Piras, Fabrizio , Piras, Federica, Ferrarese, Carlo , Sala, Gessica , Zoia, C , Benussi, Alberto , Takalo, Mari , Laatikainen, Tiina K. , Tuomi, Tiinamaija , Strandberg, Timo E. , Lindström, Jaana , Peltonen, Markku , Abraham, Richard, Al-Chalabi, Ammar, Bass, Nicholas , Brayne, Carol, Gerrish, Amy, Gill, Michael , Harold, Denise , Lawlor, Brian, Livingston, Gill , Lovestone, Simon , Lupton, Michelle K. , Mann, David , McGuinness, Bernadette , McQuillin, Andrew, O‘Donovan, Michael , Powell, John , Proitsi, Petra, Rossor, Martin, Shaw, Christopher E. , Smith, A. David , Todd, Stephen, Macías‐García, Daniel , Carrillo, F, Vargas, Liliana , Marín, M, Alonso, María Dolores, Gómez-Garre, P, Cañabate, Pilar , Escuela, R, Vigo-Ortega, R, Jesús, Silvia , Vacca, Alessandro , Roveta, Fausto , Boecker, Henning , Perneczky, Robert , Anastasiou, Costas Anastasios , Malik, Rainer , Parveen, Kayenat, Mihova, Kalina Yonkova , Weber, Heike , Kochen, Silvia , Saenz, Aldo, Kohler, Matias, Novack, Gisela Vanina , Tagliavini, Fabrizio , Nielsen, Sune Fallgaard, Fenoglio, Chiara , Biessels, Geert Jan , Love, Seth , Broeckhoven, Christine Van , Rubinsztein, David Chaim , Teipel, Stefan Johannes , Deramecourt, Vincent , Martínez-Larrad, María Teresa, Ghanbari, Mohsen , Mather, Karen A. , Ikram, M. Arfan , Rossi, Giacomina, Andreassen, Ole A., Duijn, Cornelia M. van , Alarcon, E, Buendia, M, Cano, Amanda C. , Anchuelo, Arturo Corbatón , Macı́as, Juan , Maroñas, Olalla , Martín, E, Martínez, MT, Marquié, M, Moreno, M. , Núñez‐Llaves, Raúl , Olivé, C, Puerta, R, Serrano‐Ríos, Manuel , Valero, S, Bernal, M, Carrillo, F, Pancorbo, Marian M. de , Escuela, R, Gómez-Garre, P, Munaín, Adolfo López de , Manzanares, Salvadora , Marín, M, Marquié, M, Martínez, B, Martínez, C, Martínez, V, Álvarez, A Martínez-Lage, Iriarte, M Mendioroz, Tur, J. Pérez, Periñán, María Teresa , Rodrigo, S, Valero, S, Vigo-Ortega, R, Vivancos, L. , Shadrin, Alexey A, Bahrami, Shahram , Rongve, Arvid, Athanasiu, Lavinia, Selnes, Per , Bergh, Sverre , Aarsland, Dag, Andreassen, Ole A., Tzourio, Christophe , Brice, Alexis , Ritchie, Karen , Sims, Rebecca, Gerrish, Amy, Williams, Amy, Meggy, Alun, Nash, William, Castillo-Morales, Atahualpa , Hoffmann, Per, Turton, James , Lord, Jenny , Vardy, Emma , Fisher, Elizabeth , Warren, Jason D. , Schott, Jonathan M., Rossor, Martin, Guerreiro, Rita , Al-Chalabi, Ammar, Bass, Nick, Abraham, Richard, Heun, Reinhard , Todd, Stephen, Proitsi, Petra, Hodges, Angela , Becker, Tim , Lawlor, Brian, McQuillin, Andrew, Hardy, John, Brayne, Carol, Deloukas, Panagiotis, Ben‐Shlomo, Yoav , Hooper, Nigel M. , Pickering‐Brown, Stuart , Warner, Nick, Bayer, Anthony, Singleton, Andrew , Rujescu, Dan, Giegling, Ina, Heuser, Isabella , Drichel, Dmitriy , Nöthen, Markus M. , Riemenschneider, Matthias, Gu, Wei , Scherer, Martin, Moebus, Susanne, Morris, John C. , Owen, Michael J. , Escott-Price, Valentina, Chew, Elaine Guo Yan , Chung, Sun Ju , Chao, Yinxia , Ahmad‐Annuar, Azlina , Chen, Yongping , Jiang, Lulu , Lim, Jia Lun , Liu, Chun‐Feng , Mao, Chengjie , Mok, Vincent , Pei, Zhong , Shang, Huifang , Tan, Ai Huey , Xu, Renshi , Zhang, Bao Rong, Koh, Woon‐Puay , Lim, Shen‐Yang , Khor, Chiea Chuen , Liu, Jianjun

Proceedings of the National Academy of Sciences | August 29, 2023 | Volume: 120 | Issue: 36 | Pages: No page available

10.1073/pnas.2302720120 Get It

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.
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

10.1080/15622975.2017.1375556 Get It

P4‐053: Memory, executive, and multi‐domain subtle cognitive impairment: Clinical and biomarker finding
Bjerke, Maria , Rozycki, Martin, Weiner, Michael W. , Arnold, Steven E. , Reiman, Eric M. , Shaw, Leslie M. , Trojanowski, John Q. , Toledo, Jon B. , Chen, Kewei , Jack, Clifford R. , Davatzikos, Christos

Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_17 | Pages: No page available

10.1016/j.jalz.2015.06.1758 Get It

Memory, executive, and multidomain subtle cognitive impairment
Toledo, Jon B. , Bjerke, Maria , Rozycki, Martin, Jack, Clifford R. , Weiner, Michael W. , Arnold, Steven E. , Reiman, Eric M. , Davatzikos, Christos , Shaw, Leslie M. , Trojanowski, John Q. , Initiative, For the Alzheimer's Disease Neuroimaging, Weiner, Michael, Aisen, Paul , Weiner, Michael, Petersen, Ronald, Jagust, William, Trojanowki, John Q., Green, Robert C., Saykin, Andrew J., Liu, Enchi , Green, Robert C., Montine, Tom, Petersen, Ronald, Gamst, Anthony, Thomas, Ronald G. , Walter, Sarah , Gessert, Devon, Sather, Tamie, Kornak, John , Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene E. , DeCarli, Charles, Jagust, William, Bandy, Dan, Foster, Norm, Reiman, Eric M., Mathis, Chet, Cairns, Nigel J. , Taylor‐Reinwald, Lisa, Shaw, Les, Korecka, Magdalena , Crawford, Karen , Neu, Scott, Potkin, Steven, Kachaturian, Zaven, Frank, Richard , Molchan, Susan, Quinn, Joseph, Lind, Betty, Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James, Vanderswag, Helen, Heidebrink, Judith L. , Petersen, Ronald, Johnson, Kris , Doody, Rachelle S., Chowdhury, Munir , Bell, Karen L. , Leon, Sue, Schneider, Stacy, Marson, Daniel , Griffith, Randall, Clark, David, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo‐Morrell, Leyla, Duara, Ranjan , Varon, Daniel, Roberts, Peggy, Albert, Marilyn, Onyike, Chiadi, Kielb, Stephanie , Glodzik, Lidia , Santi, Susan De , Doraiswamy, P. Murali , Petrella, Jeffrey R. , Coleman, R. Edward, Arnold, Steven E., Karlawish, Jason , Smith, Charles D., Jicha, Gregory A. , Hardy, Peter , Oakley, MaryAnn, Simpson, Donna M., Goldstein, Bonnie S., Martin, Kim, Makino, Kelly M., Ismail, M. Saleem , Brand, Connie, Mulnard, Ruth A., Thai, Gaby , Mc-Adams-Ortiz, Catherine, Mathews, Dana, Quiceno, Mary , King, Richard, Weiner, Myron, Martin-Cook, Kristen, Devous, Michael D. , Cellar, Janet S., Anderson, Heather S., Swerdlow, Russell H. , Apostolova, Liana , Lu, Po H. , Bartzokis, George, Graff‐Radford, Neill R. , Parfitt, Francine, Farlow, Martin R. , Hake, Ann Marie , Matthews, Brandy R., Herring, Scott, Dyck, Christopher H. van , Carson, Richard E. , MacAvoy, Martha G., Chertkow, Howard, Bergman, Howard , Hosein, Chris, Caldwell, Curtis, Hsiung, Ging‐Yuek Robin , Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Mesulam, Marek-Marsel, Lipowski, Kristina, Wu, Chuang‐Kuo, Johnson, Nancy , Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen, Reynolds, Brigid, Johnson, Keith A. , Marshall, Gad A. , Frey, Meghan , Yesavage, Jerome A. , Taylor, Joy L. , Lane, Barton , Rosen, Allyson , Tinklenberg, Jared, Sabbagh, Marwan N. , Belden, Christine M. , Jacobson, Sandra A. , Kowall, Neil W. , Budson, Andrew E. , Johnson, Patricia Lynn, Wolday, Saba, Bwayo, Salome K., Lerner, Alan J. , Hudson, Leon, Ogrocki, Paula, Fletcher, Evan, Olichney, John , Kittur, Smita, Borrie, Michael, Lee, T‐Y, Bartha, Dr Rob, Asthana, Sanjay , Carlsson, Cynthia M., Preda, Adrian , Tariot, Pierre N. , Fleisher, Adam , Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Kataki, Maria , Zimmerman, Earl A. , Celmins, Dzintra, Brown, Alice D., Blank, Karen, Anderson, Karen, Saykin, Andrew J., Santulli, Robert B. , Schwartz, Eben S., Williamson, Jeff D. , Garg, Pradeep , Watkins, Franklin, Ott, Brian R. , Querfurth, Henry, Tremont, Geoffrey , Salloway, Stephen , Malloy, Paul, Correia, Stephen , Rosen, Howard J. , Mintzer, Jacobo , Longmire, Crystal Flynn, Spicer, Kenneth, Rachinsky, Irina, Rogers, John, Kertesz, Andrew, Drost, Dick, Hernando, Raymundo, Sarrael, Antero, Schultz, Susan K. , Ponto, Laura L. Boles , Shim, Hyungsub , Smith, Karen E. , Relkin, Norman , Chaing, Gloria, Raudin, Lisa, Smith, Amanda , Fargher, Kristin, Raj, Balebail Ashok, Chen, Kewei , Initiative, For the Alzheimer's Disease Neuroimaging, Weiner, Michael, Weiner, Michael, Petersen, Ronald, Jagust, William, Toga, Arthur W. , Beckett, Laurel , Green, Robert C., Saykin, Andrew J., Morris, John C. , Green, Robert C., Petersen, Ronald, Donohue, Michael , Harvey, Danielle , Dale, Anders M. , Bernstein, Matt A. , Fox, Nick C. , Thompson, Paul M. , Jagust, William, Koeppe, Robert A. , Foster, Norm, Reiman, Eric M., Mathis, Chet, Lee, Virginia M.‐Y. , Saykin, Andrew J. , Foroud, Tatiana , Shen, Li , Snyder, Peter J. , Kaye, Jeffrey , Lord, Joanne L. , Petersen, Ronald, Villanueva-Meyer, Javier E. , Stern, Yaakov , Honig, Lawrence S. , Ances, Beau M. , Shah, Raj C. , Duara, Ranjan , Varón, Daniel , Rusinek, Henry , Leon, Mony J. de , Arnold, Steven E., Wolk, David A. , López, Oscar L. , Porsteinsson, Anton P. , Womack, Kyle , Diaz‐Arrastia, Ramon , Levey, Allan I. , Lah, James J. , Burns, Jeffrey M. , Silverman, Daniel H.S. , Johnson, Heather K. , Black, Sandra E. , Stefanovic, Bojana , Feldman, Howard , Kertesz, Andrew, Rogers, John, Kerwin, Diana , Martínez, Walter Fabián , Turner, Raymond Scott , Sperling, Reisa Anne , Killiany, Ronald , Norbash, Alexander , Obisesan, Thomas O. , Carmichael, Owen , Johnson, Sterling C. , Carlsson, Cynthia M. , Potkin, Steven G. , Nguyen, Dana R. , Reeder, Stephanie, Scharre, Douglas W. , Pearlson, Godfrey D. , Saykin, Andrew J., Sink, Kaycee M. , Miller, Bruce L. , Finger, Elizabeth C. , Rogers, John, Kertesz, Andrew, Jack, Clifford R , Preda, Adrian , Hsiung, Gink-Yuek , Jicha, Gregory A

Neurology | June 18, 2015 | Volume: 85 | Issue: 2 | Pages: 144-153

10.1212/wnl.0000000000001738 Get It

Nonlinear Association Between Cerebrospinal Fluid and Florbetapir F-18 β-Amyloid Measures Across the Spectrum of Alzheimer Disease
Toledo, Jon B. , Bjerke, Maria , Da, Xiao , Landau, Susan, Foster, Norman L. , Jagust, William, Jack, Clifford R. , Weiner, Michael W. , Davatzikos, Christos , Shaw, Leslie M. , Trojanowski, John Q. , Hsiung, Ging‐Yuek Robin , Preda, Adrian , Jicha, Gregory A. , Ponto, Laura L. Boles , Jack, Clifford R , Preda, Adrian , Hsiung, Gink-Yuek , Jicha, Gregory A

JAMA Neurology | March 30, 2015 | Volume: 72 | Issue: 5 | Pages: 571

10.1001/jamaneurol.2014.4829 Get It