Advances and Challenges in Understanding MicroRNA Function in Tauopathies: A Case Study of miR-132/212 by Emmanuelle Boscher, Emmanuelle Boscher, Julia Hernandez-Rapp, Julia Hernandez-Rapp, Serena Petry, Serena Petry, Remi Keraudren, Remi Keraudren, Sara Rainone, Sara Rainone, Andréanne Loiselle, Andréanne Loiselle, Claudia Goupil, Claudia Goupil, Andréanne Turgeon, Andréanne Turgeon, Isabelle St-Amour, Isabelle St-Amour, Emmanuel Planel, Emmanuel Planel, Sébastien S. Hébert, Sébastien S. Hébert

“…Interestingly, miRNA profiles go awry in tauopathies such as Alzheimer's disease, progressive supranuclear palsy, and frontotemporal dementia. Understanding the role and impact of miRNAs on tau biology could therefore provide important insights into disease risk, diagnostics, and perhaps therapeutics. …”
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The Development of Videoconference-Based Support for People Living With Rare Dementias and Their Carers: Protocol for a 3-Phase Support Group Evaluation by Claire Waddington, Emma Harding, Emilie V Brotherhood, Ian Davies Abbott, Suzanne Barker, Paul M Camic, Victory Ezeofor, Hannah Gardner, Adetola Grillo, Chris Hardy, Zoe Hoare, Roberta McKee-Jackson, Kirsten Moore, Trish O’Hara, Jennifer Roberts, Samuel Rossi-Harries, Aida Suarez-Gonzalez, Mary Pat Sullivan, Rhiannon Tudor Edwards, Millie Van Der Byl Williams, Jill Walton, Alicia Willoughby, Gill Windle, Eira Winrow, Olivia Wood, Nikki Zimmermann, Sebastian J Crutch, Joshua Stott

“…ObjectiveWe aim to develop facilitated videoconferencing support groups (VSGs) tailored to people living with or caring for someone with familial or sporadic frontotemporal dementia or young-onset Alzheimer disease, primary progressive aphasia, posterior cortical atrophy, or Lewy body dementia. …”
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Dynamic brain fluctuations outperform connectivity measures and mirror pathophysiological profiles across dementia subtypes: A multicenter study by Sebastian Moguilner, Adolfo M. García, Yonatan Sanz Perl, Enzo Tagliazucchi, Olivier Piguet, Fiona Kumfor, Pablo Reyes, Diana Matallana, Lucas Sedeño, Agustín Ibáñez

“…The present multicenter study introduces a data-driven machine learning pipeline based on dynamic connectivity fluctuation analysis (DCFA) on RS-fMRI data from 300 participants belonging to three groups: behavioral variant frontotemporal dementia (bvFTD) patients, Alzheimer's disease (AD) patients, and healthy controls. …”
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Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders by C. Delaby, D. Alcolea, M. Carmona-Iragui, I. Illán-Gala, E. Morenas-Rodríguez, I. Barroeta, M. Altuna, T. Estellés, M. Santos-Santos, J. Turon-Sans, L. Muñoz, R. Ribosa-Nogué, I. Sala-Matavera, B. Sánchez-Saudinos, A. Subirana, L. Videla, B. Benejam, S. Sirisi, S. Lehmann, O. Belbin, J. Clarimon, R. Blesa, J. Pagonabarraga, R. Rojas-Garcia, J. Fortea, A. Lleó

“…In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). …”
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Plasma Proteomic Biomarkers Relating to Alzheimer’s Disease: A Meta-Analysis Based on Our Own Studies by Liu Shi, Noel J. Buckley, Isabelle Bos, Isabelle Bos, Sebastiaan Engelborghs, Sebastiaan Engelborghs, Kristel Sleegers, Kristel Sleegers, Giovanni B. Frisoni, Anders Wallin, Alberto Lléo, Julius Popp, Julius Popp, Pablo Martinez-Lage, Cristina Legido-Quigley, Cristina Legido-Quigley, Frederik Barkhof, Frederik Barkhof, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Pieter Jelle Visser, Pieter Jelle Visser, Lars Bertram, Lars Bertram, Simon Lovestone, Simon Lovestone, Alejo J. Nevado-Holgado

“…We then examined biomarker performance using random-effect meta-analyses based on the mean difference between biomarker concentrations in AD and controls (CTL), AD and mild cognitive impairment (MCI), MCI, and CTL as well as MCI converted to dementia (MCIc) and non-converted (MCInc) individuals.Results: An overall of 2,879 subjects were retrieved for meta-analysis including 1,053 CTL, 895 MCI, 882 AD, and 49 frontotemporal dementia (FTD) patients. Six proteins were measured in at least four studies and were chosen for meta-analyses for AD diagnosis. …”
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Multi-Omics Interdisciplinary Research Integration to Accelerate Dementia Biomarker Development (MIRIADE) by Ekaterina Mavrina, Ekaterina Mavrina, Leighann Kimble, Leighann Kimble, Katharina Waury, Katharina Waury, Dea Gogishvili, Dea Gogishvili, Nerea Gómez de San José, Nerea Gómez de San José, Shreyasee Das, Shreyasee Das, Salomé Coppens, Salomé Coppens, Bárbara Fernandes Gomes, Bárbara Fernandes Gomes, Sára Mravinacová, Sára Mravinacová, Anna Lidia Wojdała, Anna Lidia Wojdała, Katharina Bolsewig, Katharina Bolsewig, Sherif Bayoumy, Sherif Bayoumy, Felicia Burtscher, Felicia Burtscher, Pablo Mohaupt, Pablo Mohaupt, Eline Willemse, Eline Willemse, Charlotte Teunissen, Charlotte Teunissen, the MIRIADE consortium

“…The results describe the decision process to shortlist biomarkers from a proteomics to develop immunoassays or mass spectrometry assays for Alzheimer's disease, Lewy body dementia, and frontotemporal dementia. In addition, we explain the approach to prepare the market implementation of novel biomarkers and assays. …”
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Mature iPSC-derived astrocytes of an ALS/FTD patient carrying the TDP43A90V mutation display a mild reactive state and release polyP toxic to motoneurons by Fabiola Rojas, Rodrigo Aguilar, Sandra Almeida, Elsa Fritz, Daniela Corvalán, Estibaliz Ampuero, Sebastián Abarzúa, Polett Garcés, Armando Amaro, Iván Diaz, Cristian Arredondo, Nicole Cortes, Mario Sanchez, Constanza Mercado, Lorena Varela-Nallar, Fen-Biao Gao, Martin Montecino, Martin Montecino, Brigitte van Zundert, Brigitte van Zundert

“…Astrocytes play a critical role in the maintenance of a healthy central nervous system and astrocyte dysfunction has been implicated in various neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). There is compelling evidence that mouse and human ALS and ALS/FTD astrocytes can reduce the number of healthy wild-type motoneurons (MNs) in co-cultures or after treatment with astrocyte conditioned media (ACM), independently of their genotype. …”
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Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons by Antonia Ratti, Valentina Gumina, Paola Lenzi, Patrizia Bossolasco, Federica Fulceri, Clara Volpe, Donatella Bardelli, Francesca Pregnolato, AnnaMaria Maraschi, Francesco Fornai, Vincenzo Silani, Claudia Colombrita

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases characterized by the presence of neuropathological aggregates of phosphorylated TDP-43 (P-TDP-43) protein. …”
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Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disordersResearch in context by Santiago Diaz-Torres, Weixiong He, Jackson Thorp, Sahba Seddighi, Sean Mullany, Christopher J. Hammond, Pirro G. Hysi, Louis R. Pasquale, Anthony P. Khawaja, Alex W. Hewitt, Jamie E. Craig, David A. Mackey, Janey L. Wiggs, Cornelia van Duijn, Michelle K. Lupton, Jue-Sheng Ong, Stuart MacGregor, Puya Gharahkhani

“…Multiple epidemiological studies suggest an association between POAG and major neurodegenerative disorders (Alzheimer's disease, amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease). However, the nature of the overlap between neurodegenerative disorders, brain morphology and glaucoma remains inconclusive. …”
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Antibody-free measurement of cerebrospinal fluid tau phosphorylation across the Alzheimer’s disease continuum by Johan Gobom, Andréa L. Benedet, Niklas Mattsson-Carlgren, Laia Montoliu-Gaya, Nina Schultz, Nicholas J. Ashton, Shorena Janelidze, Stijn Servaes, Mathias Sauer, Tharick A. Pascoal, Thomas K. Karikari, Juan Lantero-Rodriguez, Gunnar Brinkmalm, Henrik Zetterberg, Oskar Hansson, Pedro Rosa-Neto, Kaj Blennow

“…We proceeded with clinical validation of the method in the TRIAD (n = 165) and BioFINDER-2 cohorts (n = 563), consisting of patients across the full Alzheimer’s disease continuum, including also young controls (< 40 years), as well as patients with frontotemporal dementia and other neurodegenerative disorders. …”
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Contribution of rare variant associations to neurodegenerative disease presentation by Allison A. Dilliott, Abdalla Abdelhady, Kelly M. Sunderland, Sali M. K. Farhan, Agessandro Abrahao, Malcolm A. Binns, Sandra E. Black, Michael Borrie, Leanne K. Casaubon, Dar Dowlatshahi, Elizabeth Finger, Corinne E. Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Sanjeev Kumar, Donna Kwan, Anthony E. Lang, Jennifer Mandzia, Mario Masellis, Adam D. McIntyre, Stephen H. Pasternak, Bruce G. Pollock, Tarek K. Rajji, Ekaterina Rogaeva, Demetrios J. Sahlas, Gustavo Saposnik, Christine Sato, Dallas Seitz, Christen Shoesmith, Thomas D. L. Steeves, Richard H. Swartz, Brian Tan, David F. Tang-Wai, Maria C. Tartaglia, John Turnbull, Lorne Zinman, ONDRI Investigators, Robert A. Hegele

“…Here, we leveraged rare variant association analyses (RVAAs) to elucidate the genetic overlap among multiple neurodegenerative diagnoses, including Alzheimer’s disease, amyotrophic lateral sclerosis, frontotemporal dementia (FTD), mild cognitive impairment, and Parkinson’s disease (PD), as well as cerebrovascular disease, using the data generated with a custom-designed neurodegenerative disease gene panel in the Ontario Neurodegenerative Disease Research Initiative (ONDRI). …”
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The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science by Agustin Ibanez, Agustin Ibanez, Agustin Ibanez, Agustin Ibanez, Agustin Ibanez, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Katherine L. Possin, Katherine L. Possin, Katherine L. Possin, Diana Matallana, Diana Matallana, Diana Matallana, Francisco Lopera, Ricardo Nitrini, Leonel T. Takada, Nilton Custodio, Ana Luisa Sosa Ortiz, José Alberto Avila-Funes, José Alberto Avila-Funes, Maria Isabel Behrens, Maria Isabel Behrens, Maria Isabel Behrens, Maria Isabel Behrens, Andrea Slachevsky, Andrea Slachevsky, Andrea Slachevsky, Andrea Slachevsky, Andrea Slachevsky, Richard M. Myers, J. Nicholas Cochran, Luis Ignacio Brusco, Luis Ignacio Brusco, Martin A. Bruno, Martin A. Bruno, Sonia M. D. Brucki, Sonia M. D. Brucki, Stefanie Danielle Pina-Escudero, Stefanie Danielle Pina-Escudero, Stefanie Danielle Pina-Escudero, Maira Okada de Oliveira, Maira Okada de Oliveira, Maira Okada de Oliveira, Maira Okada de Oliveira, Patricio Donnelly Kehoe, Patricio Donnelly Kehoe, Adolfo M. Garcia, Adolfo M. Garcia, Adolfo M. Garcia, Adolfo M. Garcia, Adolfo M. Garcia, Juan Felipe Cardona, Hernando Santamaria-Garcia, Hernando Santamaria-Garcia, Sebastian Moguilner, Sebastian Moguilner, Claudia Duran-Aniotz, Enzo Tagliazucchi, Marcelo Maito, Erika Mariana Longoria Ibarrola, Maritza Pintado-Caipa, Maritza Pintado-Caipa, Maritza Pintado-Caipa, Maria Eugenia Godoy, Vera Bakman, Vera Bakman, Shireen Javandel, Kenneth S. Kosik, Victor Valcour, Victor Valcour, Victor Valcour, Bruce L. Miller, Bruce L. Miller, Bruce L. Miller

“…First, we present ReDLat's regional research framework, aimed at identifying the unique genetic, social, and economic factors driving the presentation of frontotemporal dementia and Alzheimer's disease in Latin America relative to the US. …”
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Decreased circulating ErbB4 ectodomain fragments as a read-out of impaired signaling function in amyotrophic lateral sclerosis by Inmaculada Lopez-Font, Aitana Sogorb-Esteve, Míriam Javier-Torrent, Gunnar Brinkmalm, Mireia Herrando-Grabulosa, Belen García-Lareu, Janina Turon-Sans, Ricardo Rojas-García, Alberto Lleó, Carlos A. Saura, Henrik Zetterberg, Kaj Blennow, Assumpció Bosch, Xavier Navarro, Javier Sáez-Valero

“…Ecto-ErbB4 levels were decreased in CSF from ALS patients (n = 20) and ALS with concomitant frontotemporal dementia patients (n = 10), compared to age-matched controls (n = 13). …”
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Common Data Elements to Facilitate Sharing and Re-use of Participant-Level Data: Assessment of Psychiatric Comorbidity Across Brain Disorders by Anthony L. Vaccarino, Derek Beaton, Derek Beaton, Sandra E. Black, Sandra E. Black, Pierre Blier, Farnak Farzan, Elizabeth Finger, Jane A. Foster, Morris Freedman, Benicio N. Frey, Benicio N. Frey, Susan Gilbert Evans, Keith Ho, Mojib Javadi, Sidney H. Kennedy, Raymond W. Lam, Anthony E. Lang, Anthony E. Lang, Bianca Lasalandra, Sara Latour, Mario Masellis, Roumen V. Milev, Daniel J. Müller, Daniel J. Müller, Douglas P. Munoz, Sagar V. Parikh, Franca Placenza, Susan Rotzinger, Susan Rotzinger, Claudio N. Soares, Alana Sparks, Stephen C. Strother, Stephen C. Strother, Richard H. Swartz, Richard H. Swartz, Brian Tan, Maria Carmela Tartaglia, Valerie H. Taylor, Elizabeth Theriault, Gustavo Turecki, Rudolf Uher, Lorne Zinman, Kenneth R. Evans

“…Results are also presented using selected common data elements pooled across three studies to better understand psychiatric comorbidity in neurological disease (Alzheimer's disease/amnesic mild cognitive impairment, amyotrophic lateral sclerosis, cerebrovascular disease, frontotemporal dementia, and Parkinson's disease).…”
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Select Atrophied Regions in Alzheimer disease (SARA): An improved volumetric model for identifying Alzheimer disease dementia by Lauren N. Koenig, Gregory S. Day, Amber Salter, Sarah Keefe, Laura M. Marple, Justin Long, Pamela LaMontagne, Parinaz Massoumazada, B. Joy Snider, Manasa Kanthamneni, Cyrus A. Raji, Nupur Ghoshal, Brian A. Gordon, Michelle Miller-Thomas, John C. Morris, Joshua S. Shimony, Tammie L.S. Benzinger

“…Greatest separation was seen for AD vs. frontotemporal dementia and for AD vs. non-neurodegenerative diagnoses. …”
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Source space connectomics of neurodegeneration: One-metric approach does not fit all by Pavel Prado, Sebastian Moguilner, Jhony A. Mejía, Agustín Sainz-Ballesteros, Mónica Otero, Agustina Birba, Hernando Santamaria-Garcia, Agustina Legaz, Sol Fittipaldi, Josephine Cruzat, Enzo Tagliazucchi, Mario Parra, Rubén Herzog, Agustín Ibáñez

“…To test this hypothesis, resting-state electroencephalogram (rsEEG) was recorded in individuals with Alzheimer's Disease (AD), behavioral variant frontotemporal dementia (bvFTD), and healthy controls (HCs). …”
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A neuroimaging biomarker for Individual Brain-Related Abnormalities In Neurodegeneration (IBRAIN): a cross-sectional studyResearch in context by Kun Zhao, Pindong Chen, Aaron Alexander-Bloch, Yongbin Wei, Martin Dyrba, Fan Yang, Xiaopeng Kang, Dawei Wang, Dongsheng Fan, Shan Ye, Yi Tang, Hongxiang Yao, Bo Zhou, Jie Lu, Chunshui Yu, Pan Wang, Zhengluan Liao, Yan Chen, Longjian Huang, Xi Zhang, Ying Han, Shuyu Li, Yong Liu

“…Findings: IBRAIN accurately differentiated individuals with AD from NCs (AUC = 0.92) and other neurodegenerative diseases, including Frontotemporal dementia (FTD), Parkinson's disease (PD), Vascular dementia (VaD) and Amyotrophic Lateral Sclerosis (ALS) (AUC = 0.92). …”
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FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD by Yuzo Fujino, Morio Ueyama, Taro Ishiguro, Daisaku Ozawa, Hayato Ito, Toshihiko Sugiki, Asako Murata, Akira Ishiguro, Tania Gendron, Kohji Mori, Eiichi Tokuda, Tomoya Taminato, Takuya Konno, Akihide Koyama, Yuya Kawabe, Toshihide Takeuchi, Yoshiaki Furukawa, Toshimichi Fujiwara, Manabu Ikeda, Toshiki Mizuno, Hideki Mochizuki, Hidehiro Mizusawa, Keiji Wada, Kinya Ishikawa, Osamu Onodera, Kazuhiko Nakatani, Leonard Petrucelli, Hideki Taguchi, Yoshitaka Nagai

“…Abnormal expansions of GGGGCC repeat sequence in the noncoding region of the C9orf72 gene is the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD). The expanded repeat sequence is translated into dipeptide repeat proteins (DPRs) by noncanonical repeat-associated non-AUG (RAN) translation. …”
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Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation by Claudia S. Bauer, Claudia S. Bauer, Christopher P. Webster, Christopher P. Webster, Allan C. Shaw, Allan C. Shaw, Jannigje R. Kok, Jannigje R. Kok, Lydia M. Castelli, Lydia M. Castelli, Ya-Hui Lin, Ya-Hui Lin, Emma F. Smith, Emma F. Smith, Francisco Illanes-Álvarez, Francisco Illanes-Álvarez, Adrian Higginbottom, Adrian Higginbottom, Pamela J. Shaw, Pamela J. Shaw, Mimoun Azzouz, Mimoun Azzouz, Laura Ferraiuolo, Laura Ferraiuolo, Guillaume M. Hautbergue, Guillaume M. Hautbergue, Andrew J. Grierson, Andrew J. Grierson, Kurt J. De Vos, Kurt J. De Vos

“…Disruption to protein homeostasis caused by lysosomal dysfunction and associated impairment of autophagy is a prominent pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). The most common genetic cause of ALS/FTD is a G4C2 hexanucleotide repeat expansion in C9orf72 (C9ALS/FTD). …”
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Ultra-high field (7T) functional magnetic resonance imaging in amyotrophic lateral sclerosis: a pilot study by Robert L. Barry, Suma Babu, Sheeba Arnold Anteraper, Christina Triantafyllou, Boris Keil, Olivia E. Rowe, D. Rangaprakash, Sabrina Paganoni, Robert Lawson, Christina Dheel, Paul M. Cernasov, Bruce R. Rosen, Eva-Maria Ratai, Nazem Atassi

“…Future avenues of scientific investigation should consider how high-resolution imaging at 7T may be leveraged to visualize differences in functional connectivity disturbances in various genotypes and phenotypes of ALS along the ALS-frontotemporal dementia spectrum.…”
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