Article
Geriatrics & Gerontology
Zhe Long, Muireann Irish, John R. Hodges, Glenda Halliday, Olivier Piguet, James R. Burrell
Summary: Clinical and pathological heterogeneity is common in patients with frontotemporal lobar degeneration (FTLD) pathology. Characteristics that differentiate between FTLD-TDP and FTLD-tau, as well as different subtypes within FTLD-TDP, were investigated. Amyotrophic lateral sclerosis features were highly specific for FTLD-TDP, which showed greater atrophy than FTLD-tau. TDP-43 subtyping may have more clinical utility in distinguishing different profiles within FTLD-TDP.
NEUROBIOLOGY OF AGING
(2021)
Review
Biochemistry & Molecular Biology
Merel O. Mol, Suzanne S. M. Miedema, John C. van Swieten, Jeroen G. J. van Rooij, Elise G. P. Dopper
Summary: FTLD is a neurodegenerative disorder with major impact on patients and their families, mainly characterized by TDP-43 proteinopathy. The exact mechanisms driving FTLD-TDP remain largely unknown, but proteomic approaches hold promise to elucidate pathogenic molecular and cellular alterations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Rachel H. Tan, Heather McCann, Claire E. Shepherd, Monica Pinkerton, Srestha Mazumder, Emma M. Devenney, Gabrielle L. Adler, Dominic B. Rowe, Jillian Kril, Glenda M. Halliday, Matthew C. Kiernan
Summary: Despite the presence of significant cortical pTDP-43 inclusions of heterogeneous morphologies in patients diagnosed with ALS, pathological subclassification is routinely performed in the minority of patients with concomitant FTD. In this study, three distinct ALS-TDP subtypes were identified based on the presence, morphology, and composition of pTDP-43 pathology. These subtypes show different levels of pTDP-43 burden and are associated with different neuropathological changes and cognitive scores.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
Hadjara Sidibe, Yousra Khalfallah, Shangxi Xiao, Nicolas B. Gomez, Hana Fakim, Elizabeth M. H. Tank, Genevieve Di Tomasso, Eric Bareke, Anais Aulas, Paul M. McKeever, Ze'ev Melamed, Laurie Destroimaisons, Jade-Emmanuelle Deshaies, Lorne Zinman, J. Alex Parker, Pascale Legault, Martine Tetreault, Sami J. Barmada, Janice Robertson, Christine Vande Velde
Summary: The study reveals that TDP-43 stabilizes G3BP1 transcripts, nuclear TDP-43 depletion is sufficient to reduce G3BP1 protein levels, and G3BP1 transcripts are reduced in neurons of ALS/FTD patients with TDP-43 cytoplasmic inclusions/nuclear depletion. These findings suggest that loss of function of TDP-43 and G3BP1 may contribute to ALS/FTD pathogenesis.
Article
Clinical Neurology
Lauren M. Forgrave, Kyung-Mee Moon, Jordan E. Hamden, Yun Li, Phoebe Lu, Leonard J. Foster, Ian R. A. Mackenzie, Mari L. DeMarco
Summary: Biomarkers of TDP-43 pathology are needed to differentiate FTLD-TDP from related disorders. Using high-resolution mass spectrometry, we identified truncated TDP-43 as a potential biomarker with high diagnostic accuracy for FTLD-TDP.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemistry & Molecular Biology
Kunikazu Tanji, Fumiaki Mori, Fumiyuki Shirai, Takehiro Fukami, Hiroyuki Seimiya, Jun Utsumi, Akiyoshi Kakita, Koichi Wakabayashi
Summary: Research has shown that tankyrase inhibitors can suppress the formation of TDP-43 protein aggregates and reduce the levels of tankyrase protein in neuronal cytoplasmic inclusions, potentially protecting against TDP-43 toxicity.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Review
Neurosciences
Katherine E. Prater, Caitlin S. Latimer, Suman Jayadev
Summary: Since its discovery in 2006, TDP-43 has been a key focus in research on neurodegenerative diseases, contributing to cognitive impairment and potentially potentiating other proteinopathies. However, there are still gaps in understanding TDP-43 driven mechanisms across different cell types, and further research is needed on the relationship between TDP-43 and glial pathology.
Article
Medicine, Research & Experimental
Yoshiaki Yamanaka, Tamami Miyagi, Yuichiro Harada, Masahiko Kuroda, Kohsuke Kanekura
Summary: The study presents a novel chemically oligomerizable TDP-43 system that mimics ALS pathology and sheds light on the mechanisms underlying the aggregation and mislocalization of TDP-43.
LABORATORY INVESTIGATION
(2021)
Review
Clinical Neurology
Arenn F. Carlos, Keith A. Josephs
Summary: This paper reviews how FTLD-TDP was established and defined clinically and neuropathologically throughout the past century.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Michael J. J. Strong, Michael Swash
Summary: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two seemingly disparate syndromes, but they share common molecular vulnerabilities. The relationship between ALS and FTD is not based on unique neuroanatomic correlations, but rather on shared underlying mechanisms.
Article
Neurosciences
Luigi Fiondella, Priya A. Gami-Patel, Christian Blok, Annemieke J. M. Rozemuller, Jeroen J. M. Hoozemans, Yolande A. L. A. Pijnenburg, Marta Scarioni, Anke Dijkstra
Summary: This study explores the occurrence and nature of movement disorders (MD) in FTLD-TDP brain donors. It reveals that 17% of FTLD-TDP patients develop MD, presenting as symmetric akinetic-rigid parkinsonism or CBS. The research also suggests that the higher TDP-43 burden in the substantia nigra (SN) may be related to the presence of MD in FTLD-TDP patients, while nigral neuronal density does not significantly differ between patients with and without MD.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
Takashi Kurashige, Hiroyuki Morino, Tomomi Murao, Yuishin Izumi, Tomohito Sugiura, Kazuya Kuraoka, Hideshi Kawakami, Tsuyoshi Torii, Hirofumi Maruyama
Summary: The study aims to identify and characterize the histopathology of peripheral axons in the skeletal muscle of patients with ALS. The results suggest that axonal pTDP-43 accumulations may be characteristic for patients with ALS, and it could be a potential novel diagnostic biomarker for ALS.
Article
Neurosciences
Alba Cervantes Gonzalez, David J. Irwin, Daniel Alcolea, Corey T. McMillan, Alice Chen-Plotkin, David Wolk, Sonia Sirisi, Oriol Dols-Icardo, Marta Querol-Vilaseca, Ignacio Illan-Gala, Miguel Angel Santos-Santos, Juan Fortea, Edward B. Lee, John Q. Trojanowski, Murray Grossman, Alberto Lleo, Olivia Belbin
Summary: The study found an association between synaptic proteins and pathological burden and cognitive performance in frontotemporal lobar degeneration (FTLD) patients. These synaptic panels have the potential to differentiate FTLD neuropathologic subtypes and serve as surrogate markers for cognitive performance in future clinical trials.
MOLECULAR NEURODEGENERATION
(2022)
Article
Neurosciences
Sarah Pickles, Tania F. Gendron, Yuka Koike, Mei Yue, Yuping Song, Jennifer M. Kachergus, J. Shi, Michael DeTure, E. Aubrey Thompson, Bjorn Oskarsson, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, Zbigniew K. Wszolek, Keith A. Josephs, Dennis W. Dickson, Leonard Petrucelli, Casey N. Cook, Mercedes Prudencio
Summary: This study found that the cerebellum plays an important role in FTLD-TDP, with decreased levels of TDP-43 protein and increased levels of truncated STMN2 transcripts, indicating TDP-43 dysfunction. Lower cerebellar TDP-43 was also associated with younger age at disease onset. These findings suggest that further investigation into the role of the cerebellum in FTLD-TDP is warranted.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Neurosciences
Maize C. Cao, Brigid Ryan, Jane Wu, Maurice A. Curtis, Richard L. M. Faull, Mike Dragunow, Emma L. Scotter
Summary: TDP-43 dysfunction is a molecular characteristic of ALS and FTD. It leads to the loss of normal nuclear function, resulting in impaired RNA regulation and the emergence of cryptic exons. Cryptic exons and differential exon usage are promising markers of TDP-43 dysfunction in ALS/FTD and provide insights into neurodegenerative pathways.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Clinical Neurology
Eliana Marisa Ramos, Deepika Reddy Dokuru, Victoria Van Berlo, Kevin Wojta, Qing Wang, Alden Y. Huang, Sandeep Deverasetty, Yue Qin, Marka van Blitterswijk, Jazmyne Jackson, Brian Appleby, Yvette Bordelon, Patrick Brannelly, Danielle E. Brushaber, Bradford Dickerson, Susan Dickinson, Kimiko Domoto-Reilly, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah K. Forsberg, Ralitza Gavrilova, Nupur Ghoshal, Jill Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Ian Grant, Murray Grossman, Hilary W. Heuer, Ging-Yuek R. Hsiung, Edward Huey, David Irwin, Kejal Kantarci, Anna Karydas, Daniel Kaufer, Diana Kerwin, David Knopman, John Kornak, Joel H. Kramer, Walter Kremers, Walter Kukull, Irene Litvan, Peter Ljubenkov, Codrin Lungu, Ian Mackenzie, Mario F. Mendez, Bruce L. Miller, Chiadi Onyike, Alexander Pantelyat, Rodney Pearlman, Len Petrucelli, Madeline Potter, Katherine P. Rankin, Katya Rascovsky, Erik D. Roberson, Emily Rogalski, Leslie Shaw, Jeremy Syrjanen, Maria Carmela Tartaglia, Nadine Tatton, Joanne Taylor, Arthur Toga, John Q. Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Rosa Rademakers, Brad F. Boeve, Howard J. Rosen, Adam L. Boxer, Giovanni Coppola
ALZHEIMERS & DEMENTIA
(2020)
Article
Clinical Neurology
Toji Miyagawa, Danielle Brushaber, Jeremy Syrjanen, Walter Kremers, Julie Fields, Leah K. Forsberg, Hilary W. Heuer, David Knopman, John Kornak, Adam Boxer, Howard J. Rosen, Bradley F. Boeve, Brian Appleby, Yvette Bordelon, Jessica Bove, Patrick Brannelly, Christina Caso, Giovanni Coppola, Reilly Dever, Christina Dheel, Bradford Dickerson, Susan Dickinson, Sophia Dominguez, Kimiko Domoto-Reilly, Kelley Faber, Jessica Ferrell, Ann Fishman, Jamie Fong, Tatiana Foroud, Ralitza Gavrilova, Debra Gearhart, Behnaz Ghazanfari, Nupur Ghoshal, Jill S. Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Ian Grant, Murray Grossman, Dana Haley, Robin Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, Daniel Kaufer, Diana Kerwin, Ruth Kraft, Joel Kramer, Walter Kukull, Irene Litvan, Diane Lucente, Codrin Lungu, Ian Mackenzie, Miranda Maldonado, Masood Manoochehri, Scott McGinnis, Emily McKinley, Mario F. Mendez, Bruce Miller, Namita Multani, Chiadi Onyike, Jaya Padmanabhan, Alexander Pantelyat, Rodney Pearlman, Leonard Petrucelli, Madeline Potter, Rosa Rademakers, Eliana M. Ramos, Kate Rankin, Katya Rascovsky, Erik D. Roberson, Emily Rogalski, Pheth Sengdy, Leslie Shaw, Maria C. Tartaglia, Nadine Tatton, Joanne Taylor, Arthur Toga, John Q. Trojanowski, Ping Wang, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek
ALZHEIMERS & DEMENTIA
(2020)
Article
Clinical Neurology
Panagiotis Fotiadis, Yael D. Reijmer, Susanne J. Van Veluw, Sergi Martinez-Ramirez, Fikret Isik Karahanoglu, Elif Gokcal, Kristin M. Schwab, Joshua N. Goldstein, Jonathan Rosand, Anand Viswanathan, Steven M. Greenberg, M. Edip Gurol
Article
Multidisciplinary Sciences
Margherita Squillario, Giulia Abate, Federico Tomasi, Veronica Tozzo, Annalisa Barla, Daniela Uberti
SCIENTIFIC REPORTS
(2020)
Article
Neurosciences
Lianne M. Reus, Bogdan Pasaniuc, Danielle Posthuma, Toni Boltz, Yolande A. L. Pijnenburg, Roel A. Ophoff
Summary: Using a transcriptome-wide association study approach, novel candidate genes associated with FTD were identified, with most significant associations observed in the dorsolateral prefrontal cortex. In addition to SEC22B, the 17q21.31 inversion locus also showed significant associations.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Neurosciences
Elizabeth Dao, Roger Tam, Ging-Yuek R. Hsiung, Lisanne ten Brinke, Rachel Crockett, Cindy K. Barha, Youngjin Yoo, Walid Al Keridy, Stephanie H. Doherty, Cornelia Laule, Alex L. MacKay, Teresa Liu-Ambrose
Summary: This exploratory study found a significant association between lower myelin water fraction in the NAWM of cSVD patients and impaired processing speed and working memory, highlighting the importance of myelin in cognitive function.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Article
Clinical Neurology
Stephanie A. Chu, Taru M. Flagan, Adam M. Staffaroni, Lize C. Jiskoot, Jersey Deng, Salvatore Spina, Liwen Zhang, Virginia E. Sturm, Jennifer S. Yokoyama, William W. Seeley, Janne M. Papma, Dan H. Geschwind, Howard J. Rosen, Bradley F. Boeve, Adam L. Boxer, Hilary W. Heuer, Leah K. Forsberg, Danielle E. Brushaber, Murray Grossman, Giovanni Coppola, Bradford C. Dickerson, Yvette M. Bordelon, Kelley Faber, Howard H. Feldman, Julie A. Fields, Jamie C. Fong, Tatiana Foroud, Ralitza H. Gavrilova, Nupur Ghoshal, Neill R. Graff-Radford, Ging-Yuek Robin Hsiung, Edward D. Huey, David J. Irwin, Kejal Kantarci, Daniel I. Kaufer, Anna M. Karydas, David S. Knopman, John Kornak, Joel H. Kramer, Walter A. Kukull, Maria I. Lapid, Irene Litvan, Ian R. A. Mackenzie, Mario F. Mendez, Bruce L. Miller, Chiadi U. Onyike, Alexander Y. Pantelyat, Rosa Rademakers, Eliana Marisa Ramos, Erik D. Roberson, Maria Carmela Tartaglia, Nadine A. Tatton, Arthur W. Toga, Ashley Vetor, Sandra Weintraub, Bonnie Wong, Zbigniew K. Wszolek, John C. Van Swieten, Suzee E. Lee
Summary: This study found that a subset of presymptomatic MAPT mutation carriers exhibited low volumes in the mesial temporal lobe, a region commonly atrophied in all symptomatic carriers. With increasing age, a higher percentage of presymptomatic carriers showed low mesial temporal volume, suggesting early neurodegeneration.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Jacob W. Vogel, Alexandra L. Young, Neil P. Oxtoby, Ruben Smith, Rik Ossenkoppele, Olof T. Strandberg, Renaud La Joie, Leon M. Aksman, Michel J. Grothe, Yasser Iturria-Medina, Michael J. Pontecorvo, Michael D. Devous, Gil D. Rabinovici, Daniel C. Alexander, Chul Hyoung Lyoo, Alan C. Evans, Oskar Hansson
Summary: By using an unbiased subtyping algorithm, the study systematically characterized longitudinal tau variability in human Alzheimer's disease, identifying four trajectories of tau deposition with distinct clinical features. The results suggest that variation in tau pathology is common and systematic, potentially necessitating a re-examination of the notion of 'typical AD' and a revisiting of tau pathological staging.
Article
Clinical Neurology
Julio C. Rojas, Ping Wang, Adam M. Staffaroni, Carolin Heller, Yann Cobigo, Amy Wolf, Sheng-Yang M. Goh, Peter A. Ljubenkov, Hilary W. Heuer, Jamie C. Fong, Joanne B. Taylor, Eliseo Veras, Linan Song, Andreas Jeromin, David Hanlon, Lili Yu, Arvind Khinikar, Rajeev Sivasankaran, Agnieszka Kieloch, Marie-Anne Valentin, Anna M. Karydas, Laura L. Mitic, Rodney Pearlman, John Kornak, Joel H. Kramer, Bruce L. Miller, Kejal Kantarci, David S. Knopman, Neill Graff-Radford, Leonard Petrucelli, Rosa Rademakers, David J. Irwin, Murray Grossman, Eliana Marisa Ramos, Giovanni Coppola, Mario F. Mendez, Yvette Bordelon, Bradford C. Dickerson, Nupur Ghoshal, Edward D. Huey, Ian R. Mackenzie, Brian S. Appleby, Kimiko Domoto-Reilly, Ging-Yuek R. Hsiung, Arthur W. Toga, Sandra Weintraub, Daniel I. Kaufer, Diana Kerwin, Irene Litvan, Chiadikaobi U. Onyike, Alexander Pantelyat, Erik D. Roberson, Maria C. Tartaglia, Tatiana Foroud, Weiping Chen, Julie Czerkowicz, Danielle L. Graham, John C. van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, David M. Cash, Rhian S. Convery, Martina Bocchetta, Martha Foiani, Caroline V. Greaves, Georgia Peakman, Lucy Russell, Imogen Swift, Emily Todd, Jonathan D. Rohrer, Bradley F. Boeve, Howard J. Rosen, Adam L. Boxer, ALLFTD Consortium, GENFI Consortium
Summary: Plasma neurofilament light chain (NfL) can identify asymptomatic carriers of FTLD-causing mutations at risk of disease progression, providing potential for selecting participants in prevention clinical trials.
Article
Medicine, Research & Experimental
Teresa Liu-Ambrose, Elizabeth Dao, Rachel A. Crockett, Cindy K. Barha, Ryan S. Falck, John R. Best, Ging-Yeuk R. Hsiung, Thalia S. Field, Kenneth M. Madden, Walid A. Alkeridy, Narlon C. Boa Sorte Silva, Jennifer C. Davis, Lisanne F. Ten Brinke, Stephanie Doherty, Roger C. Tam
Summary: SIVCI is the most common form of vascular cognitive impairment and can be delayed through exercise; a study will investigate the effect of resistance training on cognitive function and WMH progression in adults with SIVCI, aiming to slow cognitive decline and preserve quality of life.
Article
Behavioral Sciences
Megan S. Barker, Masood Manoochehri, Sandra J. Rizer, Brian S. Appleby, Danielle Brushaber, Sheena Dev, Katrina L. Devick, Bradford C. Dickerson, Julie A. Fields, Tatiana M. Foroud, Leah K. Forsberg, Douglas R. Galasko, Nupur Ghoshal, Neill R. Graff-Radford, Murray Grossman, Hilary W. Heuer, Ging-Yuek Hsiung, John Kornak, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Belen Pascual, Katherine P. Rankin, Katya Rascovsky, Adam M. Staffaroni, Maria Carmela Tartaglia, Sandra Weintraub, Bonnie Wong, Bradley F. Boeve, Adam L. Boxer, Howard J. Rosen, Jill Goldman, Edward D. Huey, Stephanie Cosentino
Summary: This study aimed to investigate the performance patterns on an abbreviated list learning task in mutation carriers with mild behavioral and/or cognitive symptoms consistent with prodromal bvFTD, with a focus on recognition memory. Results showed that MAPT mutation carriers performed worse in list recall and had difficulty discriminating targets from distractors on the recognition memory task. Identification of the earliest cognitive indicators of bvFTD is of critical importance, and distinct cognitive profiles may be evident in carriers of the three disease causing genes during the prodromal stage.
Article
Clinical Neurology
Cyril Pottier, Ligia Mateiu, Matthew C. Baker, Mariely DeJesus-Hernandez, Cristina Teixeira Vicente, NiCole A. Finch, Shulan Tian, Marka van Blitterswijk, Melissa E. Murray, Yingxue Ren, Leonard Petrucelli, Bjorn Oskarsson, Joanna M. Biernacka, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, Keith A. Josephs, Yan W. Asmann, Dennis W. Dickson, Rosa Rademakers
Summary: By comparing gene expression, the researchers found that patients with GRN mutations and those with unknown mutations have similar transcriptional profiles, involving several potentially druggable pathways. These findings reveal novel disease mechanisms in FTLD and strongly suggest that GRN mutations extend beyond GRN and contribute to genetically unexplained forms of FTLD.
Review
Clinical Neurology
Atri Chatterjee, Veronica Hirsch-Reinshagen, Imogene Scott, Neil Cashman, Ging-Yuek Robin Hsiung
Summary: This study conducted a systematic review and found that the frequency of psychosis in FTD patients was 24.2%. Among the genetic mutation carriers, C9orf72 mutation carriers had the highest frequency of psychosis (31.4%), while GRN and MAPT mutation carriers had lower frequencies of psychosis. Among the pathological subtypes, patients with FUS pathology, TDP-43 pathology, and tau pathology had a prevalence of psychosis at 30%, 25.3%, and 16.4% respectively.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Atri Chatterjee, Veronica Hirsch-Reinshagen, Syed Ali Moussavi, Blake Ducharme, Ian R. Mackenzie, Ging-Yuek Robin Hsiung
Summary: Patients with both ADNC and LBP have a higher prevalence of DLB symptoms compared to those with pure ADNC, and autonomic dysfunction can serve as a marker for the presence of LBP.
ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING
(2021)
Article
Clinical Neurology
Julio C. Rojas, Ping Wang, Adam M. Staffaroni, Carolin Heller, Yann Cobigo, Amy Wolf, Sheng-Yang M. Goh, Peter A. Ljubenkov, Hilary W. Heuer, Jamie C. Fong, Joanne B. Taylor, Eliseo Veras, Linan Song, Andreas Jeromin, David Hanlon, Lili Yu, Arvind Khinikar, Rajeev Sivasankaran, Agnieszka Kieloch, Marie-Anne Valentin, Anna M. Karydas, Laura L. Mitic, Rodney Pearlman, John Kornak, Joel H. Kramer, Bruce L. Miller, Kejal Kantarci, David S. Knopman, Neill Graff-Radford, Leonard Petrucelli, Rosa Rademakers, David J. Irwin, Murray Grossman, Eliana Marisa Ramos, Giovanni Coppola, Mario F. Mendez, Yvette Bordelon, Bradford C. Dickerson, Nupur Ghoshal, Edward D. Huey, Ian R. Mackenzie, Brian S. Appleby, Kimiko Domoto-Reilly, Ging-Yuek R. Hsiung, Arthur W. Toga, Sandra Weintraub, Daniel I. Kaufer, Diana Kerwin, Irene Litvan, Chiadikaobi U. Onyike, Alexander Pantelyat, Erik D. Roberson, Maria C. Tartaglia, Tatiana Foroud, Weiping Chen, Julie Czerkowicz, Danielle L. Graham, John C. van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, David M. Cash, Rhian S. Convery, Martina Bocchetta, Martha Foiani, Caroline V. Greaves, Georgia Peakman, Lucy Russell, Imogen Swift, Emily Todd, Jonathan D. Rohrer, Bradley F. Boeve, Howard J. Rosen, Adam L. Boxer
Summary: Plasma neurofilament light chain (NfL) can identify asymptomatic carriers of FTLD-causing mutations at risk of disease progression. Higher baseline NfL levels are associated with worse clinical progression, neuropsychological function, and brain atrophy.