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1. Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author: Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.
Published: 2023
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2. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Author: Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise Gp, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, and Guerreiro, Rita
Subjects: FTD Prevention Initiative, Humans, Disease Progression, tau Proteins, Retrospective Studies, Cohort Studies, Family, Age of Onset, Phenotype, Mutation, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Frontotemporal Dementia, C9orf72 Protein, Progranulins, Clinical Research, Rare Diseases, Dementia, Aging, Brain Disorders, Genetic Testing, Neurodegenerative, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Prevention, Genetics, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Neurological, Neurology & Neurosurgery, Clinical Sciences
Abstract: BackgroundFrontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.MethodsIn this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. We used mixed effects models to explore differences in age at onset, age at death, and disease duration between genetic groups and individual mutations. We also assessed correlations between the age at onset and at death of each individual and the age at onset and at death of their parents and the mean age at onset and at death of their family members. Lastly, we used mixed effects models to investigate the extent to which variability in age at onset and at death could be accounted for by family membership and the specific mutation carried.FindingsData were available from 3403 individuals from 1492 families: 1433 with C9orf72 expansions (755 families), 1179 with GRN mutations (483 families, 130 different mutations), and 791 with MAPT mutations (254 families, 67 different mutations). Mean age at symptom onset and at death was 49·5 years (SD 10·0; onset) and 58·5 years (11·3; death) in the MAPT group, 58·2 years (9·8; onset) and 65·3 years (10·9; death) in the C9orf72 group, and 61·3 years (8·8; onset) and 68·8 years (9·7; death) in the GRN group. Mean disease duration was 6·4 years (SD 4·9) in the C9orf72 group, 7·1 years (3·9) in the GRN group, and 9·3 years (6·4) in the MAPT group. Individual age at onset and at death was significantly correlated with both parental age at onset and at death and with mean family age at onset and at death in all three groups, with a stronger correlation observed in the MAPT group (r=0·45 between individual and parental age at onset, r=0·63 between individual and mean family age at onset, r=0·58 between individual and parental age at death, and r=0·69 between individual and mean family age at death) than in either the C9orf72 group (r=0·32 individual and parental age at onset, r=0·36 individual and mean family age at onset, r=0·38 individual and parental age at death, and r=0·40 individual and mean family age at death) or the GRN group (r=0·22 individual and parental age at onset, r=0·18 individual and mean family age at onset, r=0·22 individual and parental age at death, and r=0·32 individual and mean family age at death). Modelling showed that the variability in age at onset and at death in the MAPT group was explained partly by the specific mutation (48%, 95% CI 35-62, for age at onset; 61%, 47-73, for age at death), and even more by family membership (66%, 56-75, for age at onset; 74%, 65-82, for age at death). In the GRN group, only 2% (0-10) of the variability of age at onset and 9% (3-21) of that of age of death was explained by the specific mutation, whereas 14% (9-22) of the variability of age at onset and 20% (12-30) of that of age at death was explained by family membership. In the C9orf72 group, family membership explained 17% (11-26) of the variability of age at onset and 19% (12-29) of that of age at death.InterpretationOur study showed that age at symptom onset and at death of people with genetic frontotemporal dementia is influenced by genetic group and, particularly for MAPT mutations, by the specific mutation carried and by family membership. Although estimation of age at onset will be an important factor in future pre-symptomatic therapeutic trials for all three genetic groups, our study suggests that data from other members of the family will be particularly helpful only for individuals with MAPT mutations. Further work in identifying both genetic and environmental factors that modify phenotype in all groups will be important to improve such estimates.FundingUK Medical Research Council, National Institute for Health Research, and Alzheimer's Society.
Published: 2020

3. Evaluating the presymptomatic time window in genetic Frontotemporal Dementia

Author: Moore, Katrina M.
Subjects: 616.8
Abstract: Frontotemporal Dementia (FTD) is the second most common form of dementia in those under 65 years of age. To date the only known risk factors are genetic, and a third of FTD is inherited. Unique to the study of genetic FTD is examining of those at-risk of FTD who are many years from expected symptom onset. As the era of clinical trials for genetic FTD approaches, it is clear that pharmaceutical companies aim to target therapeutic interventions many years before symptom onset. To date one of the greatest challenges in genetic FTD is understanding the age at which at-risk individuals are likely to develop symptoms and having sensitive biomarkers to detect early presymptomatic changes. The work outlined in this thesis investigated the presymptomatic phase of genetic FTD, focusing on improving our understanding of when individuals at-risk of FTD are likely to develop symptoms; and exploring well-validated and novel cognitive assessments to devise more sensitive measures of cognition in genetic FTD. I begin my thesis by performing a retrospective study of genetic FTD to understand the factors that influence age at symptom onset, showing that an individual’s age at onset is significantly correlated with both parental and mean family age at onset. In the subsequent chapters I build upon these findings to explore cognitive changes in genetic FTD. I devise a cognitive composite based on pre-existing neuropsychology assessments to provide the optimal combination of assessments for use in a potential clinical trial. I also devised a novel cognitive assessment tool for the detection of early presymptomatic cognitive changes in genetic FTD to provide a proof of concept that this novel technique is sensitive to early presymptomatic cognitive changes. The work expands on what is currently known about the presymptomatic phase of genetic FTD and provides new avenues for understanding early cognitive changes.
Published: 2020

4. Author Correction: Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author: Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.
Published: 2024
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5. Cognitive composites for genetic frontotemporal dementia: GENFI-Cog

Author: Poos, Jackie M., Moore, Katrina M., Nicholas, Jennifer, Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Jiskoot, Lize C., van der Ende, Emma, van den Berg, Esther, Papma, Janne M., Seelaar, Harro, Pijnenburg, Yolande A. L., Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonça, Alexandre, Tiraboschi, Pietro, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Le Ber, Isabel, Pasquier, Florence, van Swieten, John C., and Rohrer, Jonathan D.
Published: 2022
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6. Concurrent validity, test-retest reliability, and normative properties of the Ignite app: a cognitive assessment for frontotemporal dementia.

Author: Convery, Rhian S, primary, Adams-Carr, Kerala, additional, Nicholas, Jennifer M, additional, Moore, Katrina M, additional, Goldsmith, Sophie, additional, Bocchetta, Martina, additional, Russell, Lucy L, additional, and Rohrer, Jonathan D, additional
Published: 2024
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7. Laughter as a paradigm of socio-emotional signal processing in dementia

Author: Sivasathiaseelan, Harri, Marshall, Charles R., Benhamou, Elia, van Leeuwen, Janneke E.P., Bond, Rebecca L., Russell, Lucy L., Greaves, Caroline, Moore, Katrina M., Hardy, Chris J.D., Frost, Chris, Rohrer, Jonathan D., Scott, Sophie K., and Warren, Jason D.
Published: 2021
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8. Disease-related cortical thinning in presymptomatic granulin mutation carriers

Author: Rossor, Martin N., Fox, Nick C., Woollacott, Ione O.C., Shafei, Rachelle, Greaves, Caroline, Neason, Mollie, Guerreiro, Rita, Bras, Jose, Thomas, David L., Nicholas, Jennifer, Mead, Simon, Meeter, Lieke, Panman, Jessica, Papma, Janne, van Minkelen, Rick, Pijnenburg, Yolande, Indakoetxea, Begoña, Gabilondo, Alazne, TaintaMD, Mikel, de Arriba, Maria, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, David, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini MD, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Maruta, Carolina, Ferreira, Catarina B., Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro, Diana, Rosario Almeida, Maria, Castelo-Branco, Miguel, João Leitão, Maria, Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Rosa-Neto, Pedro, Veldsman, Michele, Flanagan, Toby, Prix, Catharina, Hoegen, Tobias, Wlasich, Elisabeth, Loosli, Sandra, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Borrego-Écija, Sergi, Sala-Llonch, Roser, van Swieten, John, Borroni, Barbara, Moreno, Fermín, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Laforce, Robert, Jr, Rowe, James B, Finger, Elizabeth, Vandenberghe, Rik, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Synofzik, Matthis, Ducharme, Simon, Levin, Johannes, Danek, Adrian, Gerhard, Alex, Otto, Markus, Butler, Chris, Frisoni, Giovanni, Sorbi, Sandro, Heller, Carolin, Bocchetta, Martina, Cash, David M, Convery, Rhian S, Moore, Katrina M, Rohrer, Jonathan D, and Sanchez-Valle, Raquel
Published: 2021
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9. Altered phobic reactions in frontotemporal dementia: A behavioural and neuroanatomical analysis

Author: Jimenez, Daniel A., Bond, Rebecca L., Requena-Komuro, Mai-Carmen, Sivasathiaseelan, Harri, Marshall, Charles R., Russell, Lucy L., Greaves, Caroline, Moore, Katrina M., Woollacott, Ione OC., Shafei, Rachelle, Hardy, Chris JD., Rohrer, Jonathan D., and Warren, Jason D.
Published: 2020
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10. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Author: Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D
Published: 2020
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11. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Author: Rossor, Martin N., Warren, Jason D., Fox, Nick C., Woollacott, Ione O.C., Shafei, Rachelle, Greaves, Caroline, Guerreiro, Rita, Bras, Jose, Thomas, David L., Nicholas, Jennifer, Mead, Simon, van Minkelen, Rick, Barandiaran, Myriam, Indakoetxea, Begoña, Gabilondo, Alazne, Tainta, Mikel, de Arriba, Maria, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Borrego-Ecija, Sergi, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, David, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Karnath, Hans-Otto, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Ferreira, Catarina B., Miltenberger, Gabriel, Maruta, Carolina, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro, Diana, Rosario Almeida, Maria, Castelo-Branco, Miguel, João Leitão, Maria, Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Pievani, Michela, Lombardi, Gemma, Nacmias, Benedetta, Ferrari, Camilla, Bessi, Valentina, van der Ende, Emma L, Meeter, Lieke H, Poos, Jackie M, Panman, Jessica L, Jiskoot, Lize C, Dopper, Elise G P, Papma, Janne M, de Jong, Frank Jan, Verberk, Inge M W, Teunissen, Charlotte, Rizopoulos, Dimitris, Heller, Carolin, Convery, Rhian S, Moore, Katrina M, Bocchetta, Martina, Neason, Mollie, Cash, David M, Borroni, Barbara, Galimberti, Daniela, Sanchez-Valle, Raquel, Laforce, Robert, Jr, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Carmela Tartaglia, Maria, Rowe, James B, Vandenberghe, Rik, Finger, Elizabeth, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Butler, Chris, Ducharme, Simon, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni B, Cappa, Stefano, Pijnenburg, Yolande A L, Rohrer, Jonathan D, and van Swieten, John C
Published: 2019
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12. White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Author: Rossor, Martin N., Warren, Jason D., Fox, Nick C., Guerreiro, Rita, Bras, Jose, Thomas, David L., Nicholas, Jennifer, Mead, Simon, Jiskoot, Lize, Meeter, Lieke, Panman, Jessica, Papma, Janne, van Minkelen, Rick, Pijnenburg, Yolanda, Barandiaran, Myriam, Indakoetxea, Begoña, Gabilondo, Alazne, Tainta, Mikel, Arriba, Maria de, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Borrego-Ecija, Sergi, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, David, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Karnarth, Hans-Otto, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Ferreira, Catarina B., Miltenberger, Gabriel, Maruta, Carolina, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro, Diana, Almeida, Maria Rosario, Castelo-Branco, Miguel, Leitão, Maria João, Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Rosa-Neto, Pedro, Veldsman, Michele, Flanagan, Toby, Prix, Catharina, Hoegen, Tobias, Wlasich, Elisabeth, Loosli, Sandra, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Pievani, Michela, Lombardi, Gemma, Nacmias, Benedetta, Ferrari, Camilla, Bessi, Valentina, Sudre, Carole H., Bocchetta, Martina, Heller, Carolin, Convery, Rhian, Neason, Mollie, Moore, Katrina M., Cash, David M., Woollacott, Ione O.C., Foiani, Martha, Heslegrave, Amanda, Shafei, Rachelle, Greaves, Caroline, van Swieten, John, Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Jr, Masellis, Mario, Tartaglia, Maria Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Frisoni, Giovanni B., Sorbi, Sandro, Otto, Markus, Zetterberg, Henrik, Ourselin, Sebastien, Cardoso, M. Jorge, and Rohrer, Jonathan D.
Published: 2019
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13. Butyrylcholinesterase Kalow variant reduces age‐of‐onset of Alzheimer Disease in apolipoprotein ɛ4 carriers

Author: Lane, Roger M, primary, Junge, Candice, additional, Li, Dan, additional, Yang, Qingqing M, additional, Moore, Katrina M, additional, Edwards, Amanda, additional, Graham, Danielle, additional, and Mummery, Catherine J, additional
Published: 2023
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14. Author Correction: Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author: Mummery, Catherine J., primary, Börjesson-Hanson, Anne, additional, Blackburn, Daniel J., additional, Vijverberg, Everard G. B., additional, De Deyn, Peter Paul, additional, Ducharme, Simon, additional, Jonsson, Michael, additional, Schneider, Anja, additional, Rinne, Juha O., additional, Ludolph, Albert C., additional, Bodenschatz, Ralf, additional, Kordasiewicz, Holly, additional, Swayze, Eric E., additional, Fitzsimmons, Bethany, additional, Mignon, Laurence, additional, Moore, Katrina M., additional, Yun, Chris, additional, Baumann, Tiffany, additional, Li, Dan, additional, Norris, Daniel A., additional, Crean, Rebecca, additional, Graham, Danielle L., additional, Huang, Ellen, additional, Ratti, Elena, additional, Bennett, C. Frank, additional, Junge, Candice, additional, and Lane, Roger M., additional
Published: 2023
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15. Ventricular volume expansion in presymptomatic genetic frontotemporal dementia

Author: Tavares, Tamara P., Mitchell, Derek G.V., Coleman, Kristy, Shoesmith, Christen, Bartha, Robert, Cash, David M., Moore, Katrina M., van Swieten, John, Borroni, Barbara, Galimberti, Daniela, Tartaglia, Maria Carmela, Rowe, James, Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni, Cappa, Stefano, Laforce, Robert, Jr, de Mendonça, Alexandre, Sorbi, Sandro, Wallstrom, Garrick, Masellis, Mario, Rohrer, Jonathan D., and Finger, Elizabeth C.
Published: 2019
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16. Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

Author: Moore, Katrina M, primary, Wolf, Nicole I., additional, Hobson, Grace, additional, Bowyer, Kristina, additional, McSherry, Jordan, additional, Hartin, Gail, additional, Wilde, Claire, additional, Shapiro, Stacey, additional, Frank, Jason, additional, Manley, David, additional, and Junge, Candice, additional
Published: 2023
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17. Data‐driven staging of genetic frontotemporal dementia using multi‐modal <scp>MRI</scp>

Author: McCarthy, Jillian, Borroni, Barbara, Tartaglia, Maria Carmela, Neason, Mollie, Nicholas, Jennifer, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne, Peakman, Georgia, Piaceri, Irene, Finger, Elizabeth, Pievani, Michela, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rittman, Tim, Rogaeva, Ekaterina, Vandenberghe, Rik, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Scarpini, Elio, Schönecker, Sonja, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Tábuas-Pereira, Miguel, de Mendonça, Alexandre, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Vandamme, Philip, Tagliavini, Fabrizio, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, Santana, Isabel, Butler, Chris, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Sanchez-Valle, Raquel, Otto, Markus, Frisoni, Giovanni B, Ghidoni, Roberta, Sorbi, Sandro, Jiskoot, Lize C, Seelaar, Harro, van Swieten, John C, Rohrer, Jonathan D, Iturria-Medina, Yasser, Ducharme, Simon, Moreno, Fermin, Initiative, GENetic Frontotemporal Dementia, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Laforce, Robert, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Graff, Caroline, Bras, Jose, Bruffaerts, Rose, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Convery, Rhian, Cope, Thomas, Cosseddu, Maura, Synofzik, Matthis, de Arriba, María, Di Fede, Giuseppe, Díaz, Zigor, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Carlos, Ferreira, Catarina B, Flanagan, Toby, Galimberti, Daniela, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Rowe, James B, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Karnath, Hans Otto, Keren, Ron, Langheinrich, Tobias, Leitão, Maria João, Lladó, Albert, Masellis, Mario, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, van Minkelen, Rick, Mitchell, Sara, Moore, Katrina M, Nacmias, Benedetta, Repositório da Universidade de Lisboa, Neurology, Amsterdam Neuroscience - Neurodegeneration, McCarthy, Jillian [0000-0002-9285-0023], Borroni, Barbara [0000-0001-9340-9814], Apollo - University of Cambridge Repository, GENetic Frontotemporal Dementia Initiative (GENFI), Clinical Genetics, and Clinical Psychology
Subjects: disease progression, frontotemporal dementia, magnetic resonance imaging, unsupervised machine learning, BIOMARKER, Heterozygote, Medizin, Neuroimaging, diagnostic imaging [Frontotemporal Dementia], Magnetic resonance imaging, SDG 3 - Good Health and Well-being, HARMONIZATION, Settore BIO/13 - Biologia Applicata, NEUROFILAMENT LIGHT-CHAIN, BEHAVIORAL VARIANT, CRITERIA, Humans, Radiology, Nuclear Medicine and imaging, ddc:610, Cross-Sectional Studies, Language, Magnetic Resonance Imaging, Frontotemporal Dementia, genetics [Frontotemporal Dementia], Unsupervised machine learning, Disease progression, Science & Technology, Radiological and Ultrasound Technology, Radiology, Nuclear Medicine & Medical Imaging, Neurosciences, DEGENERATION, DIFFUSION, psychology [Frontotemporal Dementia], Neurology, GRAY-MATTER ATROPHY, Neurosciences & Neurology, Neurology (clinical), Anatomy, Life Sciences & Biomedicine, GENFI, CLINICAL-TRIALS, Frontotemporal dementia
Abstract: Funder: Fondation Brain Canada; Id: http://dx.doi.org/10.13039/100009408, Funder: Fonds de Recherche du Québec ‐ Santé; Id: http://dx.doi.org/10.13039/501100000156, Funder: Health Canada; Id: http://dx.doi.org/10.13039/501100000008, Funder: Brain Canada Foundation; Id: http://dx.doi.org/10.13039/100009408, Frontotemporal dementia in genetic forms is highly heterogeneous and begins many years to prior symptom onset, complicating disease understanding and treatment development. Unifying methods to stage the disease during both the presymptomatic and symptomatic phases are needed for the development of clinical trials outcomes. Here we used the contrastive trajectory inference (cTI), an unsupervised machine learning algorithm that analyzes temporal patterns in high-dimensional large-scale population datasets to obtain individual scores of disease stage. We used cross-sectional MRI data (gray matter density, T1/T2 ratio as a proxy for myelin content, resting-state functional amplitude, gray matter fractional anisotropy, and mean diffusivity) from 383 gene carriers (269 presymptomatic and 115 symptomatic) and a control group of 253 noncarriers in the Genetic Frontotemporal Dementia Initiative. We compared the cTI-obtained disease scores to the estimated years to onset (age-mean age of onset in relatives), clinical, and neuropsychological test scores. The cTI based disease scores were correlated with all clinical and neuropsychological tests (measuring behavioral symptoms, attention, memory, language, and executive functions), with the highest contribution coming from mean diffusivity. Mean cTI scores were higher in the presymptomatic carriers than controls, indicating that the method may capture subtle pre-dementia cerebral changes, although this change was not replicated in a subset of subjects with complete data. This study provides a proof of concept that cTI can identify data-driven disease stages in a heterogeneous sample combining different mutations and disease stages of genetic FTD using only MRI metrics.
Published: 2022
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18. sj-pdf-2-jcn-10.1177_08830738231152658 - Supplemental material for Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

Author: Moore, Katrina M, Wolf, Nicole I., Hobson, Grace, Bowyer, Kristina, McSherry, Jordan, Hartin, Gail, Wilde, Claire, Shapiro, Stacey, Frank, Jason, Manley, David, and Junge, Candice
Subjects: FOS: Clinical medicine, 111403 Paediatrics, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract: Supplemental material, sj-pdf-2-jcn-10.1177_08830738231152658 for Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact by Katrina M Moore, Nicole I. Wolf, Grace Hobson, Kristina Bowyer, Jordan McSherry, Gail Hartin, Claire Wilde, Stacey Shapiro, Jason Frank, David Manley and Candice Junge in Journal of Child Neurology
Published: 2023
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19. sj-docx-1-jcn-10.1177_08830738231152658 - Supplemental material for Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

Author: Moore, Katrina M, Wolf, Nicole I., Hobson, Grace, Bowyer, Kristina, McSherry, Jordan, Hartin, Gail, Wilde, Claire, Shapiro, Stacey, Frank, Jason, Manley, David, and Junge, Candice
Subjects: FOS: Clinical medicine, 111403 Paediatrics, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract: Supplemental material, sj-docx-1-jcn-10.1177_08830738231152658 for Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact by Katrina M Moore, Nicole I. Wolf, Grace Hobson, Kristina Bowyer, Jordan McSherry, Gail Hartin, Claire Wilde, Stacey Shapiro, Jason Frank, David Manley and Candice Junge in Journal of Child Neurology
Published: 2023
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20. Cognitive composites for genetic frontotemporal dementia:GENFI-Cog

Author: Moore, Katrina M., Poos, Jackie M., Nicholas, Jennifer, Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Jiskoot, Lize C., van der Ende, Emma, van den Berg, Esther, Papma, Janne M., Seelaar, Harro, Pijnenburg, Yolande A.L., Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonça, Alexandre, Tiraboschi, Pietro, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Le Ber, Isabel, Pasquier, Florence, van Swieten, John C., Rohrer, Jonathan D., Moore, Katrina M., Poos, Jackie M., Nicholas, Jennifer, Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Jiskoot, Lize C., van der Ende, Emma, van den Berg, Esther, Papma, Janne M., Seelaar, Harro, Pijnenburg, Yolande A.L., Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonça, Alexandre, Tiraboschi, Pietro, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Le Ber, Isabel, Pasquier, Florence, van Swieten, John C., and Rohrer, Jonathan D.
Abstract: Background: Clinical endpoints for upcoming therapeutic trials in frontotemporal dementia (FTD) are increasingly urgent. Cognitive composite scores are often used as endpoints but are lacking in genetic FTD. We aimed to create cognitive composite scores for genetic frontotemporal dementia (FTD) as well as recommendations for recruitment and duration in clinical trial design. Methods: A standardized neuropsychological test battery covering six cognitive domains was completed by 69 C9orf72, 41 GRN, and 28 MAPT mutation carriers with CDR® plus NACC-FTLD ≥ 0.5 and 275 controls. Logistic regression was used to identify the combination of tests that distinguished best between each mutation carrier group and controls. The composite scores were calculated from the weighted averages of test scores in the models based on the regression coefficients. Sample size estimates were calculated for individual cognitive tests and composites in a theoretical trial aimed at preventing progression from a prodromal stage (CDR® plus NACC-FTLD 0.5) to a fully symptomatic stage (CDR® plus NACC-FTLD ≥ 1). Time-to-event analysis was performed to determine how quickly mutation carriers progressed from CDR® plus NACC-FTLD = 0.5 to ≥ 1 (and therefore how long a trial would need to be). Results: The results from the logistic regression analyses resulted in different composite scores for each mutation carrier group (i.e. C9orf72, GRN, and MAPT). The estimated sample size to detect a treatment effect was lower for composite scores than for most individual tests. A Kaplan-Meier curve showed that after 3 years, ~ 50% of individuals had converted from CDR® plus NACC-FTLD 0.5 to ≥ 1, which means that the estimated effect size needs to be halved in sample size calculations as only half of the mutation carriers would be expected to progress from CDR® plus NACC FTLD 0.5 to ≥ 1 without treatment over that time period. Discussion: We created gene-specific cognitive composite scores for C9orf72, GRN, and M
Published: 2022

21. Additional file 1 of Cognitive composites for genetic frontotemporal dementia: GENFI-Cog

Author: Poos, Jackie M., Moore, Katrina M., Nicholas, Jennifer, Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Jiskoot, Lize C., van der Ende, Emma, van den Berg, Esther, Papma, Janne M., Seelaar, Harro, Pijnenburg, Yolande A. L., Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendon��a, Alexandre, Tiraboschi, Pietro, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Le Ber, Isabel, Pasquier, Florence, van Swieten, John C., and Rohrer, Jonathan D.
Abstract: Additional file 1: Table S1. Number of control data available in each language per cognitive test. Table S2. Parameters included in the sample size calculations. Table S3. Participants characteristics and neuropsychological test results per CDR�� plus NACC FTLD global score. Table S4. Number of mutation carriers that progressed on the CDR�� plus NACC FTLD. Figure S1. STROBE flowchart.
Published: 2022
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22. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort

Author: Convery, Rhian S, Bocchetta, Martina, Masellis, Mario, Afonso, S., Taipa, R., Caroppo, P., Di Fede, G., Giaccone, G., Prioni, S., Redaelli, V., Rossi, G., Tiraboschi, P., Duro, D., Tartaglia, Maria Carmela, Almeida, M. R., Branco, M. C., Leitão, M. J., Tabuas-Pereira, M., Santiago, B., Gauthier, S., Rosa-Neto, P., Veldsman, M., Flanagan, T., Prix, C., Graff, Caroline, Hoegen, T., Wlasich, E., Loosli, S., Schonecker, S., Semler, E., Anderl-Straub, S., Galimberti, Daniela, Rowe, James B, Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Greaves, Caroline V, Santana, Isabel, Ducharme, Simon, Butler, Christopher, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D, Rohrer, Jonathan D, Initiative, Genetic FTD, Moore, Katrina M, Rossor, M. N., Fox, N. C., Woollacott, I. O. C., Shafei, R., Heller, C., Peakman, G., Swift, I., Todd, E., Guerreiro, R., Bras, J., Cash, David M, Thomas, D. L., Nicholas, J., Mead, S., Jiskoot, L., Meeter, L., Panman, J., Papma, J., van Minkelen, R., Pijnenburg, Y., Barandiara, M., Van Swieten, John, Indakoetxea, B., Gabilondo, A., Tainta, M., de Arriba, M., Gorostidi, A., Zulaica, M., Villanua, J., Diaz, Z., Borrego-Ecija, S., Olives, J., Moreno, Fermin, Lladó, A., Balasa, M., Antonell, A., Bargallo, N., Premi, E., Cosseddu, M., Gazzina, S., Padovani, A., Gasparotti, R., Archetti, S., Sánchez-Valle, Raquel, Black, S., Mitchell, S., Rogaeva, E., Freedman, M., Keren, R., Tang-Wai, D., Öijerstedt, L., Andersson, C., Jelic, V., Thonberg, H., Borroni, Barbara, Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Cope, T., Timberlake, C., Rittman, T., Shoesmith, C., Bartha, R., Rademakers, R., Laforce, Robert, Wilke, C., Karnarth, H-O, Bender, B., Bruffaerts, R., Vandamme, P., Vandenbulcke, M., Ferreira, C. B., Miltenberger, G., Maruta, C., Verdelho, A., Convery, Rhian S [0000-0002-9477-1812], Bocchetta, Martina [0000-0003-1814-5024], Greaves, Caroline V [0000-0002-6446-1960], Moore, Katrina M [0000-0002-4458-8390], Van Swieten, John [0000-0001-6278-6844], Borroni, Barbara [0000-0001-9340-9814], Rowe, James B [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Otto, Markus [0000-0002-6647-5944], Rohrer, Jonathan D [0000-0002-6155-8417], Apollo - University of Cambridge Repository, Neurology, and Repositório da Universidade de Lisboa
Subjects: Male, diagnostic imaging [Corpus Striatum], Medizin, Somatosensory system, physiopathology [Frontotemporal Dementia], frontotemporal dementia, Cohort Studies, genetics [Progranulins], 0302 clinical medicine, Progranulins, Thalamus, C9orf72, Cerebellum, diagnostic imaging [Cerebral Cortex], pathology [Cerebellum], Medicine, pain, genetics [Frontotemporal Dementia], Cerebral Cortex, 0303 health sciences, DNA Repeat Expansion, Pain Perception, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Psychiatry and Mental health, Cohort, diagnostic imaging [Prefrontal Cortex], Female, Frontotemporal dementia, genetics [Atrophy], Adult, medicine.medical_specialty, pathology [Corpus Striatum], Pain, Prefrontal Cortex, genetics [Perceptual Disorders], MAPT protein, human, tau Proteins, diagnostic imaging [Frontotemporal Dementia], Temporal lobe, Perceptual Disorders, 03 medical and health sciences, Atrophy, pathology [Thalamus], Internal medicine, Humans, ddc:610, genetics [C9orf72 Protein], 030304 developmental biology, diagnostic imaging [Perceptual Disorders], Aged, diagnostic imaging [Thalamus], C9orf72 Protein, business.industry, pathology [Temporal Lobe], diagnostic imaging [Atrophy], physiopathology [Atrophy], medicine.disease, diagnostic imaging [Cerebellum], pathology [Prefrontal Cortex], Corpus Striatum, physiopathology [Perceptual Disorders], genetics [tau Proteins], diagnostic imaging [Temporal Lobe], Logistic Models, Asymptomatic Diseases, Mutation, GRN protein, human, Surgery, Orbitofrontal cortex, pathology [Cerebral Cortex], Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
Abstract: © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. published by BMJ., Objective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI). Methods: Abnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception. Results: Altered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum. Conclusion: Changes in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.
Published: 2020
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23. A cognitive composite for genetic frontotemporal dementia: GENFI‐cog

Author: Poos, Jackie M., primary, Nicholas, Jennifer M, additional, Moore, Katrina M, additional, Russell, Lucy L, additional, Peakman, Georgia, additional, Jiskoot, Lize C., additional, van den Berg, Esther, additional, Papma, Janne M., additional, Seelaar, Harro, additional, Pijnenburg, Yolande A.L., additional, Moreno, Fermin, additional, Sanchez‐Valle, Raquel, additional, Borroni, Barbara, additional, Laforce, Robert, additional, Masellis, Mario, additional, Tartaglia, Maria Carmela, additional, Graff, Caroline, additional, Galimberti, Daniela, additional, Rowe, James B, additional, Finger, Elizabeth, additional, Synofzik, Matthis, additional, Vandenberghe, Rik, additional, Mendonca, Alexandre, additional, Tagliavini, Fabrizio, additional, Santana, Isabel, additional, Ducharme, Simon, additional, Butler, Christopher, additional, Gerhard, Alexander, additional, Levin, Johannes, additional, Danek, Adrian, additional, Otto, Markus, additional, van Swieten, John C, additional, and Rohrer, Jonathan D, additional
Published: 2021
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24. MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia

Author: Manera, Ana L, Dadar, Mahsa, Van Swieten, John Cornelis, Borroni, Barbara, Sanchez-Valle, Raquel, Moreno, Fermin, Laforce Jr, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Rowe, James Benedict, Masellis, Mario, Tartaglia, Maria Carmela, Finger, Elizabeth, Vandenberghe, Rik, De Mendonca, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Butler, Christopher R, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni, Ghidoni, Roberta, Sorbi, Sandro, Rohrer, Jonathan Daniel, Ducharme, Simon, Collins, D Louis, FTLDNI Investigators, Rosen, Howard, Dickerson, Bradford C., Domoto-Reilly, Kimoko, Knopman, David, Boeve, Bradley F., Boxer, Adam L., Kornak, John, Miller, Bruce L., Seeley, William W., Gorno-Tempini, Maria-Luisa, McGinnis, Scott, Mandelli, Maria Luisa, GENFI Consortium, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Bras, Jose, Bruffaerts, Rose, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Convery, Rhian, Cope, Thomas, Cosseddu, Maura, Arriba, María De, Fede, Giuseppe Di, Díaz, Zigor, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Carlos, Ferreira, Catarina B., Flanagan, Toby, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Jiskoot, Lize, Karnath, Hans-Otto, Keren, Ron, Leitão, Maria João, Lladó, Albert, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, Minkelen, Rick Van, Mitchell, Sara, Moore, Katrina M, Nacmias, Benedetta, Neason, Mollie, Nicholas, Jennifer, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne, Peakman, Georgia, Piaceri, Irene, Pievani, Michela, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rittman, Tim, Rogaeva, Ekaterina, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Scarpini, Elio, Schönecker, Sonja, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Vandamme, Philip, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, Neurology, Amsterdam Neuroscience - Neurodegeneration, Repositório da Universidade de Lisboa, Manera, Ana L [0000-0003-1639-6858], Dadar, Mahsa [0000-0003-4008-2672], Van Swieten, John Cornelis [0000-0001-6278-6844], Borroni, Barbara [0000-0001-9340-9814], Galimberti, Daniela [0000-0002-9284-5953], Rowe, James Benedict [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Otto, Markus [0000-0002-6647-5944], Rohrer, Jonathan Daniel [0000-0002-6155-8417], Ducharme, Simon [0000-0002-7309-1113], Apollo - University of Cambridge Repository, and Clinical Genetics
Subjects: medicine.medical_specialty, Audiology, Cross-validation, 03 medical and health sciences, 0302 clinical medicine, Text mining, Cognitive neurology, Neuroimaging, SDG 3 - Good Health and Well-being, Medicine, ddc:610, 030304 developmental biology, 0303 health sciences, business.industry, Semantic fluency, medicine.disease, 3. Good health, Random forest, Psychiatry and Mental health, Cohort, Surgery, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract: © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ., Introduction: Structural brain imaging is paramount for the diagnosis of behavioural variant of frontotemporal dementia (bvFTD), but it has low sensitivity leading to erroneous or late diagnosis. Methods: A total of 515 subjects from two different bvFTD cohorts (training and independent validation cohorts) were used to perform voxel-wise morphometric analysis to identify regions with significant differences between bvFTD and controls. A random forest classifier was used to individually predict bvFTD from deformation-based morphometry differences in isolation and together with semantic fluency. Tenfold cross validation was used to assess the performance of the classifier within the training cohort. A second held-out cohort of genetically confirmed bvFTD cases was used for additional validation. Results: Average 10-fold cross-validation accuracy was 89% (82% sensitivity, 93% specificity) using only MRI and 94% (89% sensitivity, 98% specificity) with the addition of semantic fluency. In the separate validation cohort of definite bvFTD, accuracy was 88% (81% sensitivity, 92% specificity) with MRI and 91% (79% sensitivity, 96% specificity) with added semantic fluency scores. Conclusion: Our results show that structural MRI and semantic fluency can accurately predict bvFTD at the individual subject level within a completely independent validation cohort coming from a different and independent database., Data collection and sharing for this project was funded by the Frontotemporal Lobar Degeneration Neuroimaging Initiative (National Institutes of Health Grant R01 AG032306). The study is coordinated through the University of California, San Francisco, Memory and Aging Center. FTLDNI data are disseminated by the Laboratory for Neuro Imaging at the University of Southern California. Brain scan acquisition at the McConnell Brain Imaging was supported by the Brain Canada Foundation with support from Health Canada and the Canada Foundation for Innovation (CFI Project 34874). This work was supported by Italian Ministry of Health (CoEN015 and Ricerca Corrente).
Published: 2021
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25. Cognitive Composites for Genetic Frontotemporal Dementia: GENFI-Cog

Author: Poos, Jackie M., primary, Moore, Katrina M., additional, Nicholas, Jennifer, additional, Russell, Lucy L., additional, Peakman, Georgia, additional, Convery, Rhian S., additional, Jiskoot, Lize C., additional, Ende, Emma L. van der, additional, Berg, Esther van den, additional, Papma, Janne M., additional, Seelaar, Harro, additional, Pijnenburg, Yolande A.L., additional, Moreno, Fermin, additional, Sanchez-Valle, Raquel, additional, Borroni, Barbara, additional, Laforce, Robert, additional, Masellis, Mario, additional, Tartaglia, Carmela, additional, Graff, Caroline, additional, Galimberti, Daniela, additional, Rowe, James, additional, Finger, Elizabeth, additional, Synofzik, Matthis, additional, Vandenberghe, Rik, additional, Mendonça, Alexandre, additional, Tiraboschi, Pietro, additional, Santana, Isabel, additional, Ducharme, Simon, additional, Butler, Chris, additional, Gerhard, Alexander, additional, Levin, Johannes, additional, Danek, Adrian, additional, Otto, Markus, additional, Ber, Isabel Le, additional, Pasquier, Florence, additional, Swieten, John C. van, additional, and Rohrer, Jonathan D., additional
Published: 2021
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26. Cerebrospinal fluid YKL-40 and chitotriosidase levels in frontotemporal dementia

Author: Woollacott, Ione OC, Nicholas, Jennifer, Heller, Carolin, Foiani, Martha S, Moore, Katrina M, Russell, Lucy L, Paterson, Ross W, Keshavan, Ashvini, Schott, Jonathan M, Warren, Jason D, Heslegrave, Amanda, Zetterberg, Henrik, and Rohrer, Jonathan D
Subjects: musculoskeletal diseases, mental disorders, nervous system diseases
Abstract: Background: Chronic glial dysfunction may contribute to the pathogenesis of frontotemporal dementia (FTD). Cerebrospinal fluid (CSF) levels of glia-derived proteins YKL-40 and chitotriosidase are increased in Alzheimer’s disease (AD) but have not been explored in detail across the spectrum of FTD. Methods: We investigated whether CSF YKL-40 and chitotriosidase levels differed between FTD patients and controls, across different clinical and genetic subtypes of FTD, and between individuals with a clinical FTD syndrome due to AD versus non-AD (frontotemporal lobar degeneration, FTLD) pathology (based on CSF neurodegenerative biomarkers). Eighteen healthy controls and 64 people with FTD (behavioural variant FTD, n = 20; primary progressive aphasia [PPA], n = 44: nfvPPA, n = 16, svPPA, n = 11, lvPPA, n = 14, PPA-NOS, n = 3) were included. 10/64 had familial FTD, with mutations in GRN(n = 3), MAPT(n = 4), or C9orf72 (n = 3). 15/64 had neurodegenerative biomarkers consistent with AD pathology. Levels were measured by immunoassay and compared using multiple linear regressions. We also examined relationships of YKL-40 and chitotriosidase with CSF total tau (T-tau), phosphorylated tau 181 (P-tau) and β-amyloid 1–42 (Aβ42), with each other, and with age and disease duration. Results: CSF YKL-40 and chitotriosidase levels were higher in FTD, particularly lvPPA (both) and nfvPPA (YKL-40), compared with controls. GRN mutation carriers had higher levels of both proteins than controls and C9orf72 expansion carriers, and YKL-40 was higher in MAPT mutation carriers than controls. Individuals with underlying AD pathology had higher YKL-40 and chitotriosidase levels than both controls and those with likely FTLD pathology. CSF YKL-40 and chitotriosidase levels were variably associated with levels of T-tau, P-tau and Aβ42, and with each other, depending on clinical syndrome and underlying pathology. CSF YKL-40 but not chitotriosidase was associated with age, but not disease duration. Conclusion: CSF YKL-40 and chitotriosidase levels are increased in individuals with clinical FTD syndromes, particularly due to AD pathology. In a preliminary analysis of genetic groups, levels of both proteins are found to be highly elevated in FTD due to GRN mutations, while YKL-40 is increased in individuals with MAPT mutations. As glia-derived protein levels generally correlate with T-tau and P-tau levels, they may reflect the glial response to neurodegeneration in FTLD.
Published: 2020

27. Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes

Author: Malpetti, Maura, Jones, P. Simon, Tsvetanov, Kamen A., Rittman, Timothy, van Swieten, John C., Borroni, Barbara, Sanchez-Valle, Raquel, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Finger, Elizabeth, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris R., Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Frisoni, Giovanni B., Ghidoni, Roberta, Sorbi, Sandro, Heller, Carolin, Todd, Emily G., Bocchetta, Martina, Cash, David M., Convery, Rhian S., Peakman, Georgia, Moore, Katrina M., Rohrer, Jonathan D., Kievit, Rogier A., Rowe, James B., Malpetti, Maura, Jones, P. Simon, Tsvetanov, Kamen A., Rittman, Timothy, van Swieten, John C., Borroni, Barbara, Sanchez-Valle, Raquel, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Finger, Elizabeth, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris R., Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Frisoni, Giovanni B., Ghidoni, Roberta, Sorbi, Sandro, Heller, Carolin, Todd, Emily G., Bocchetta, Martina, Cash, David M., Convery, Rhian S., Peakman, Georgia, Moore, Katrina M., Rohrer, Jonathan D., Kievit, Rogier A., and Rowe, James B.
Abstract: Introduction: Apathy adversely affects prognosis and survival of patients with frontotemporal dementia (FTD). We test whether apathy develops in presymptomatic genetic FTD, and is associated with cognitive decline and brain atrophy. Methods: Presymptomatic carriers of MAPT, GRN or C9orf72 mutations (N = 304), and relatives without mutations (N = 296) underwent clinical assessments and MRI at baseline, and annually for 2 years. Longitudinal changes in apathy, cognition, gray matter volumes, and their relationships were analyzed with latent growth curve modeling. Results: Apathy severity increased over time in presymptomatic carriers, but not in non-carriers. In presymptomatic carriers, baseline apathy predicted cognitive decline over two years, but not vice versa. Apathy progression was associated with baseline low gray matter volume in frontal and cingulate regions. Discussion: Apathy is an early marker of FTD-related changes and predicts a subsequent subclinical deterioration of cognition before dementia onset. Apathy may be a modifiable factor in those at risk of FTD.
Published: 2021

28. Disease-related cortical thinning in presymptomatic granulin mutation carriers

Author: Borrego-Écija, Sergi, Sala-Llonch, Roser, van Swieten, John, Borroni, Barbara, Moreno, Fermín, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Laforce, Robert, Rowe, James B., Finger, Elizabeth, Vandenberghe, Rik, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Synofzik, Matthis, Ducharme, Simon, Levin, Johannes, Danek, Adrian, Gerhard, Alex, Otto, Markus, Butler, Chris, Frisoni, Giovanni, Sorbi, Sandro, Heller, Carolin, Bocchetta, Martina, Cash, David M., Convery, Rhian S., Moore, Katrina M., Rohrer, Jonathan D., Sanchez-Valle, Raquel, Borrego-Écija, Sergi, Sala-Llonch, Roser, van Swieten, John, Borroni, Barbara, Moreno, Fermín, Masellis, Mario, Tartaglia, Carmela, Graff, Caroline, Galimberti, Daniela, Laforce, Robert, Rowe, James B., Finger, Elizabeth, Vandenberghe, Rik, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Synofzik, Matthis, Ducharme, Simon, Levin, Johannes, Danek, Adrian, Gerhard, Alex, Otto, Markus, Butler, Chris, Frisoni, Giovanni, Sorbi, Sandro, Heller, Carolin, Bocchetta, Martina, Cash, David M., Convery, Rhian S., Moore, Katrina M., Rohrer, Jonathan D., and Sanchez-Valle, Raquel
Abstract: Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset.
Published: 2021

29. Tau-targeting antisense oligonucleotide MAPTRxin mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author: Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.
Abstract: Tau plays a key role in Alzheimer’s disease (AD) pathophysiology, and accumulating evidence suggests that lowering tau may reduce this pathology. We sought to inhibit MAPTexpression with a tau-targeting antisense oligonucleotide (MAPTRx) and reduce tau levels in patients with mild AD. A randomized, double-blind, placebo-controlled, multiple-ascending dose phase 1b trial evaluated the safety, pharmacokinetics and target engagement of MAPTRx. Four ascending dose cohorts were enrolled sequentially and randomized 3:1 to intrathecal bolus administrations of MAPTRxor placebo every 4 or 12 weeks during the 13-week treatment period, followed by a 23 week post-treatment period. The primary endpoint was safety. The secondary endpoint was MAPTRxpharmacokinetics in cerebrospinal fluid (CSF). The prespecified key exploratory outcome was CSF total-tau protein concentration. Forty-six patients enrolled in the trial, of whom 34 were randomized to MAPTRxand 12 to placebo. Adverse events were reported in 94% of MAPTRx-treated patients and 75% of placebo-treated patients; all were mild or moderate. No serious adverse events were reported in MAPTRx-treated patients. Dose-dependent reduction in the CSF total-tau concentration was observed with greater than 50% mean reduction from baseline at 24 weeks post-last dose in the 60 mg (four doses) and 115 mg (two doses) MAPTRxgroups. Clinicaltrials.gov registration number: NCT03186989.
Published: 2023
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30. Disease-related cortical thinning in presymptomatic granulin mutation carriers

Author: Borrego-Écija, Sergi, primary, Sala-Llonch, Roser, additional, van Swieten, John, additional, Borroni, Barbara, additional, Moreno, Fermín, additional, Masellis, Mario, additional, Tartaglia, Carmela, additional, Graff, Caroline, additional, Galimberti, Daniela, additional, Laforce, Robert, additional, Rowe, James B, additional, Finger, Elizabeth, additional, Vandenberghe, Rik, additional, Tagliavini, Fabrizio, additional, de Mendonça, Alexandre, additional, Santana, Isabel, additional, Synofzik, Matthis, additional, Ducharme, Simon, additional, Levin, Johannes, additional, Danek, Adrian, additional, Gerhard, Alex, additional, Otto, Markus, additional, Butler, Chris, additional, Frisoni, Giovanni, additional, Sorbi, Sandro, additional, Heller, Carolin, additional, Bocchetta, Martina, additional, Cash, David M, additional, Convery, Rhian S, additional, Moore, Katrina M, additional, Rohrer, Jonathan D, additional, Sanchez-Valle, Raquel, additional, Rossor, Martin N., additional, Fox, Nick C., additional, Woollacott, Ione O.C., additional, Shafei, Rachelle, additional, Greaves, Caroline, additional, Neason, Mollie, additional, Guerreiro, Rita, additional, Bras, Jose, additional, Thomas, David L., additional, Nicholas, Jennifer, additional, Mead, Simon, additional, Meeter, Lieke, additional, Panman, Jessica, additional, Papma, Janne, additional, van Minkelen, Rick, additional, Pijnenburg, Yolande, additional, Indakoetxea, Begoña, additional, Gabilondo, Alazne, additional, TaintaMD, Mikel, additional, de Arriba, Maria, additional, Gorostidi, Ana, additional, Zulaica, Miren, additional, Villanua, Jorge, additional, Diaz, Zigor, additional, Olives, Jaume, additional, Lladó, Albert, additional, Balasa, Mircea, additional, Antonell, Anna, additional, Bargallo, Nuria, additional, Premi, Enrico, additional, Cosseddu, Maura, additional, Gazzina, Stefano, additional, Padovani, Alessandro, additional, Gasparotti, Roberto, additional, Archetti, Silvana, additional, Black, Sandra, additional, Mitchell, Sara, additional, Rogaeva, Ekaterina, additional, Freedman, Morris, additional, Keren, Ron, additional, Tang-Wai, David, additional, Öijerstedt, Linn, additional, Andersson, Christin, additional, Jelic, Vesna, additional, Thonberg, Hakan, additional, Arighi, Andrea, additional, Fenoglio, Chiara, additional, Scarpini MD, Elio, additional, Fumagalli, Giorgio, additional, Cope, Thomas, additional, Timberlake, Carolyn, additional, Rittman, Timothy, additional, Shoesmith, Christen, additional, Bartha, Robart, additional, Rademakers, Rosa, additional, Wilke, Carlo, additional, Bender, Benjamin, additional, Bruffaerts, Rose, additional, Vandamme, Philip, additional, Vandenbulcke, Mathieu, additional, Maruta, Carolina, additional, Ferreira, Catarina B., additional, Miltenberger, Gabriel, additional, Verdelho, Ana, additional, Afonso, Sónia, additional, Taipa, Ricardo, additional, Caroppo, Paola, additional, Di Fede, Giuseppe, additional, Giaccone, Giorgio, additional, Prioni, Sara, additional, Redaelli, Veronica, additional, Rossi, Giacomina, additional, Tiraboschi, Pietro, additional, Duro, Diana, additional, Rosario Almeida, Maria, additional, Castelo-Branco, Miguel, additional, João Leitão, Maria, additional, Tabuas-Pereira, Miguel, additional, Santiago, Beatriz, additional, Gauthier, Serge, additional, Rosa-Neto, Pedro, additional, Veldsman, Michele, additional, Flanagan, Toby, additional, Prix, Catharina, additional, Hoegen, Tobias, additional, Wlasich, Elisabeth, additional, Loosli, Sandra, additional, Schonecker, Sonja, additional, Semler, Elisa, additional, and Anderl-Straub, Sarah, additional
Published: 2021
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31. Laughter as a Paradigm of Socio-emotional Signal Processing in Dementia

Author: Sivasathiaseelan, Harri, primary, Marshall, Charles R, additional, Benhamou, Elia, additional, Leeuwen, Janneke EP van, additional, Bond, Rebecca L, additional, Russell, Lucy L, additional, Greaves, Caroline, additional, Moore, Katrina M, additional, Ha, Chris JD, additional, Frost, Chris, additional, Rohrer, Jonathan D, additional, Scott, Sophie K, additional, and Warren, Jason D, additional
Published: 2020
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32. Trajectory of apathy, cognition and neural correlates in the decades before symptoms in frontotemporal dementia

Author: Malpetti, Maura, primary, Kievit, Rogier A, additional, Jones, P Simon, additional, Rittman, Timothy, additional, Tsvetanov, Kamen A, additional, van Swieten, John C, additional, Borroni, Barbara, additional, Galimberti, Daniela, additional, Sanchez‐Valle, Raquel, additional, Laforce, Robert, additional, Moreno, Fermin, additional, Synofzik, Matthis, additional, Graff, Caroline, additional, Masellis, Mario, additional, Tartaglia, Carmela, additional, Vandenberghe, Rik, additional, Finger, Elizabeth, additional, Tagliavini, Fabrizio, additional, de Mendonca, Alexandre, additional, Santana, Isabel, additional, Butler, Christopher, additional, Ducharme, Simon, additional, Gerhard, Alexander, additional, Danek, Adrian, additional, Levin, Johannes, additional, Otto, Markus, additional, Frisoni, Giovanni B, additional, Ghidoni, Roberta, additional, Heller, Carolin, additional, Todd, Emily, additional, Bocchetta, Martina, additional, Convery, Rhian S, additional, Peakman, Georgia, additional, Moore, Katrina M, additional, Rohrer, Jonathan D, additional, and Rowe, James B, additional
Published: 2020
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33. The Free Cued Selective Reminding Test detects episodic memory impairment in the presymptomatic period of familial frontotemporal dementia within the GENFI cohort

Author: Poos, Jackie M., primary, Russell, Lucy L, additional, Peakman, Georgia, additional, Moore, Katrina M., additional, Greaves, Caroline V., additional, Bocchetta, Martina, additional, Jiskoot, Lize C., additional, Moreno, Fermin, additional, Sanchez‐Valle, Raquel, additional, Borroni, Barbara, additional, Laforce, Robert, additional, Masellis, Mario, additional, Tartaglia, Carmela, additional, Graff, Caroline, additional, Galimberti, Daniela, additional, Rowe, James B., additional, Finger, Elizabeth, additional, Synofzik, Matthis, additional, Vandenberghe, Rik, additional, Mendonca, Alexandre, additional, Tagliavini, Fabrizio, additional, Santana, Isabel, additional, Ducharme, Simon, additional, Butler, Christopher, additional, Gerhard, Alexander, additional, Levin, Johannes, additional, Danek, Adrian, additional, Otto, Markus, additional, Papma, Janne M., additional, van den Berg, Esther, additional, van Swieten, John C., additional, and Rohrer, Jonathan D., additional
Published: 2020
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34. Altered Time Awareness in Dementia

Author: Requena-Komuro, Maï-Carmen, primary, Marshall, Charles R., additional, Bond, Rebecca L., additional, Russell, Lucy L., additional, Greaves, Caroline, additional, Moore, Katrina M., additional, Agustus, Jennifer L., additional, Benhamou, Elia, additional, Sivasathiaseelan, Harri, additional, Hardy, Chris J. D., additional, Rohrer, Jonathan D., additional, and Warren, Jason D., additional
Published: 2020
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35. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Author: van der Ende, Emma L, primary, Meeter, Lieke H, additional, Poos, Jackie M, additional, Panman, Jessica L, additional, Jiskoot, Lize C, additional, Dopper, Elise G P, additional, Papma, Janne M, additional, de Jong, Frank Jan, additional, Verberk, Inge M W, additional, Teunissen, Charlotte, additional, Rizopoulos, Dimitris, additional, Heller, Carolin, additional, Convery, Rhian S, additional, Moore, Katrina M, additional, Bocchetta, Martina, additional, Neason, Mollie, additional, Cash, David M, additional, Borroni, Barbara, additional, Galimberti, Daniela, additional, Sanchez-Valle, Raquel, additional, Laforce, Robert, additional, Moreno, Fermin, additional, Synofzik, Matthis, additional, Graff, Caroline, additional, Masellis, Mario, additional, Carmela Tartaglia, Maria, additional, Rowe, James B, additional, Vandenberghe, Rik, additional, Finger, Elizabeth, additional, Tagliavini, Fabrizio, additional, de Mendonça, Alexandre, additional, Santana, Isabel, additional, Butler, Chris, additional, Ducharme, Simon, additional, Gerhard, Alex, additional, Danek, Adrian, additional, Levin, Johannes, additional, Otto, Markus, additional, Frisoni, Giovanni B, additional, Cappa, Stefano, additional, Pijnenburg, Yolande A L, additional, Rohrer, Jonathan D, additional, van Swieten, John C, additional, Rossor, Martin N., additional, Warren, Jason D., additional, Fox, Nick C., additional, Woollacott, Ione O.C., additional, Shafei, Rachelle, additional, Greaves, Caroline, additional, Guerreiro, Rita, additional, Bras, Jose, additional, Thomas, David L., additional, Nicholas, Jennifer, additional, Mead, Simon, additional, van Minkelen, Rick, additional, Barandiaran, Myriam, additional, Indakoetxea, Begoña, additional, Gabilondo, Alazne, additional, Tainta, Mikel, additional, de Arriba, Maria, additional, Gorostidi, Ana, additional, Zulaica, Miren, additional, Villanua, Jorge, additional, Diaz, Zigor, additional, Borrego-Ecija, Sergi, additional, Olives, Jaume, additional, Lladó, Albert, additional, Balasa, Mircea, additional, Antonell, Anna, additional, Bargallo, Nuria, additional, Premi, Enrico, additional, Cosseddu, Maura, additional, Gazzina, Stefano, additional, Padovani, Alessandro, additional, Gasparotti, Roberto, additional, Archetti, Silvana, additional, Black, Sandra, additional, Mitchell, Sara, additional, Rogaeva, Ekaterina, additional, Freedman, Morris, additional, Keren, Ron, additional, Tang-Wai, David, additional, Öijerstedt, Linn, additional, Andersson, Christin, additional, Jelic, Vesna, additional, Thonberg, Hakan, additional, Arighi, Andrea, additional, Fenoglio, Chiara, additional, Scarpini, Elio, additional, Fumagalli, Giorgio, additional, Cope, Thomas, additional, Timberlake, Carolyn, additional, Rittman, Timothy, additional, Shoesmith, Christen, additional, Bartha, Robart, additional, Rademakers, Rosa, additional, Wilke, Carlo, additional, Karnath, Hans-Otto, additional, Bender, Benjamin, additional, Bruffaerts, Rose, additional, Vandamme, Philip, additional, Vandenbulcke, Mathieu, additional, Ferreira, Catarina B., additional, Miltenberger, Gabriel, additional, Maruta, Carolina, additional, Verdelho, Ana, additional, Afonso, Sónia, additional, Taipa, Ricardo, additional, Caroppo, Paola, additional, Di Fede, Giuseppe, additional, Giaccone, Giorgio, additional, Prioni, Sara, additional, Redaelli, Veronica, additional, Rossi, Giacomina, additional, Tiraboschi, Pietro, additional, Duro, Diana, additional, Rosario Almeida, Maria, additional, Castelo-Branco, Miguel, additional, João Leitão, Maria, additional, Tabuas-Pereira, Miguel, additional, Santiago, Beatriz, additional, Gauthier, Serge, additional, Schonecker, Sonja, additional, Semler, Elisa, additional, Anderl-Straub, Sarah, additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Pievani, Michela, additional, Lombardi, Gemma, additional, Nacmias, Benedetta, additional, Ferrari, Camilla, additional, and Bessi, Valentina, additional
Published: 2019
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36. Sleep symptoms in syndromes of frontotemporal dementia and Alzheimer’s disease: A proof-of-principle behavioural study

Author: Sani, Tara P., primary, Bond, Rebecca L., additional, Marshall, Charles R., additional, Hardy, Chris J.D., additional, Russell, Lucy L., additional, Moore, Katrina M., additional, Slattery, Catherine F., additional, Paterson, Ross W., additional, Woollacott, Ione O.C., additional, Wendi, Indra Putra, additional, Crutch, Sebastian J., additional, Schott, Jonathan M., additional, Rohrer, Jonathan D., additional, Eriksson, Sofia H., additional, Dijk, Derk-Jan, additional, and Warren, Jason D., additional
Published: 2019
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37. Longitudinal (18F)AV-1451 PET imaging in a patient with frontotemporal dementia due to a Q351R MAPT mutation

Author: Convery, Rhian S, primary, Jiao, Jieqing, additional, Clarke, Mica T M, additional, Moore, Katrina M, additional, Koriath, Carolin A M, additional, Woollacott, Ione O C, additional, Weston, Philip S J, additional, Gunn, Roger, additional, Rabiner, Ilan, additional, Cash, David M, additional, Rossor, Martin N, additional, Warren, Jason D, additional, Fox, Nick C, additional, Ourselin, Sebastien, additional, Bocchetta, Martina, additional, and Rohrer, Jonathan D, additional
Published: 2019
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38. The functional neuroanatomy of emotion processing in frontotemporal dementias

Author: Marshall, Charles R, primary, Hardy, Christopher J D, additional, Russell, Lucy L, additional, Bond, Rebecca L, additional, Sivasathiaseelan, Harri, additional, Greaves, Caroline, additional, Moore, Katrina M, additional, Agustus, Jennifer L, additional, van Leeuwen, Janneke E P, additional, Wastling, Stephen J, additional, Rohrer, Jonathan D, additional, Kilner, James M, additional, and Warren, Jason D, additional
Published: 2019
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39. TD‐P‐18: GENFI IGNITE: A NOVEL COGNITIVE ASSESSMENT APP FOR TESTING PRESYMPTOMATIC FRONTOTEMPORAL DEMENTIA

Author: Moore, Katrina M., primary, Nicholas, Jennifer M., additional, Convery, Rhian S., additional, Greaves, Caroline V., additional, Bocchetta, Martina, additional, Neason, Mollie R., additional, Cash, David M., additional, Gerhard, Alexander, additional, Butler, Christopher R., additional, Rowe, James B., additional, and Rohrer, Jonathon D., additional
Published: 2019
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40. P2-450: COMPARING THE EFFECTIVENESS OF BRIEF COGNITIVE ASSESSMENTS IN BEHAVIOURAL VARIANT FRONTOTEMPORAL DEMENTIA

Author: Convery, Rhian S., primary, Moore, Katrina M., additional, Bocchetta, Martina, additional, Russell, Lucy L., additional, Greaves, Caroline V., additional, Neason, Mollie R., additional, Shafei, Rachelle, additional, Woollacott, Ione OC., additional, Warren, Jason D., additional, and Rohrer, Jonathan D., additional
Published: 2019
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41. P2-612: DEPRESSION AND ANXIETY IN THE ‘AT-RISK’ PHASE OF FAMILIAL FRONTOTEMPORAL DEMENTIA

Author: Greaves, Caroline V., primary, Moore, Katrina M., additional, Shafei, Rachelle, additional, and Rohrer, Jonathan D., additional
Published: 2019
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42. White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Author: Sudre, Carole H., primary, Bocchetta, Martina, additional, Heller, Carolin, additional, Convery, Rhian, additional, Neason, Mollie, additional, Moore, Katrina M., additional, Cash, David M., additional, Thomas, David L., additional, Woollacott, Ione O.C., additional, Foiani, Martha, additional, Heslegrave, Amanda, additional, Shafei, Rachelle, additional, Greaves, Caroline, additional, van Swieten, John, additional, Moreno, Fermin, additional, Sanchez-Valle, Raquel, additional, Borroni, Barbara, additional, Laforce, Robert, additional, Masellis, Mario, additional, Tartaglia, Maria Carmela, additional, Graff, Caroline, additional, Galimberti, Daniela, additional, Rowe, James B., additional, Finger, Elizabeth, additional, Synofzik, Matthis, additional, Vandenberghe, Rik, additional, de Mendonça, Alexandre, additional, Tagliavini, Fabrizio, additional, Santana, Isabel, additional, Ducharme, Simon, additional, Butler, Chris, additional, Gerhard, Alex, additional, Levin, Johannes, additional, Danek, Adrian, additional, Frisoni, Giovanni B., additional, Sorbi, Sandro, additional, Otto, Markus, additional, Zetterberg, Henrik, additional, Ourselin, Sebastien, additional, Cardoso, M. Jorge, additional, Rohrer, Jonathan D., additional, Rossor, Martin N., additional, Warren, Jason D., additional, Fox, Nick C., additional, Guerreiro, Rita, additional, Bras, Jose, additional, Nicholas, Jennifer, additional, Mead, Simon, additional, Jiskoot, Lize, additional, Meeter, Lieke, additional, Panman, Jessica, additional, Papma, Janne, additional, van Minkelen, Rick, additional, Pijnenburg, Yolanda, additional, Barandiaran, Myriam, additional, Indakoetxea, Begoña, additional, Gabilondo, Alazne, additional, Tainta, Mikel, additional, Arriba, Maria de, additional, Gorostidi, Ana, additional, Zulaica, Miren, additional, Villanua, Jorge, additional, Diaz, Zigor, additional, Borrego-Ecija, Sergi, additional, Olives, Jaume, additional, Lladó, Albert, additional, Balasa, Mircea, additional, Antonell, Anna, additional, Bargallo, Nuria, additional, Premi, Enrico, additional, Cosseddu, Maura, additional, Gazzina, Stefano, additional, Padovani, Alessandro, additional, Gasparotti, Roberto, additional, Archetti, Silvana, additional, Black, Sandra, additional, Mitchell, Sara, additional, Rogaeva, Ekaterina, additional, Freedman, Morris, additional, Keren, Ron, additional, Tang-Wai, David, additional, Öijerstedt, Linn, additional, Andersson, Christin, additional, Jelic, Vesna, additional, Thonberg, Hakan, additional, Arighi, Andrea, additional, Fenoglio, Chiara, additional, Scarpini, Elio, additional, Fumagalli, Giorgio, additional, Cope, Thomas, additional, Timberlake, Carolyn, additional, Rittman, Timothy, additional, Shoesmith, Christen, additional, Bartha, Robart, additional, Rademakers, Rosa, additional, Wilke, Carlo, additional, Karnarth, Hans-Otto, additional, Bender, Benjamin, additional, Bruffaerts, Rose, additional, Vandamme, Philip, additional, Vandenbulcke, Mathieu, additional, Ferreira, Catarina B., additional, Miltenberger, Gabriel, additional, Maruta, Carolina, additional, Verdelho, Ana, additional, Afonso, Sónia, additional, Taipa, Ricardo, additional, Caroppo, Paola, additional, Di Fede, Giuseppe, additional, Giaccone, Giorgio, additional, Prioni, Sara, additional, Redaelli, Veronica, additional, Rossi, Giacomina, additional, Tiraboschi, Pietro, additional, Duro, Diana, additional, Almeida, Maria Rosario, additional, Castelo-Branco, Miguel, additional, Leitão, Maria João, additional, Tabuas-Pereira, Miguel, additional, Santiago, Beatriz, additional, Gauthier, Serge, additional, Rosa-Neto, Pedro, additional, Veldsman, Michele, additional, Flanagan, Toby, additional, Prix, Catharina, additional, Hoegen, Tobias, additional, Wlasich, Elisabeth, additional, Loosli, Sandra, additional, Schonecker, Sonja, additional, Semler, Elisa, additional, Anderl-Straub, Sarah, additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Pievani, Michela, additional, Lombardi, Gemma, additional, Nacmias, Benedetta, additional, Ferrari, Camilla, additional, and Bessi, Valentina, additional
Published: 2019
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43. Subtype and stage inference identifies distinct atrophy patterns in genetic frontotemporal dementia that MAP onto specific MAPT mutations: Imaging and non‐AD neurodegeneration.

Author: Young, Alexandra L., Bocchetta, Martina, Cash, David M, Convery, Rhian S, Moore, Katrina M, Neason, Mollie R, Thomas, David L, van Swieten, John C., Borroni, Barbara, Sanchez‐Valle, Raquel, Moreno, Fermin, Laforce, Robert, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Rowe, James B, Masellis, Mario, Tartaglia, Carmela, Finger, Elizabeth, and Vandenberghe, Rik
Abstract: Background: Mutations in the MAPT gene are known to cause frontotemporal dementia (FTD), but there is heterogeneity in FTD phenotype across individuals. Here we used an unsupervised learning algorithm – Subtype and Stage Inference (SuStaIn) – to relate phenotypic heterogeneity to specific mutations in the MAPT gene. Method: SuStaIn evaluates the optimal grouping of individuals into disease subtypes, where each subtype consists of a sequence (set of stages) in which biomarkers transition between different z‐scores. We applied SuStaIn to cross‐sectional regional brain volumes extracted from T1‐weighted MRI data from MAPT carriers in the GENFI study to find the best stratification of the data into subtypes, and the temporal progression of each subtype. We used data from 82 MAPT carriers (57 presymptomatic and 25 symptomatic) to identify subtypes and data from a control group of 300 non‐carriers to derive z‐scores. We subtyped and staged individuals at up to five annual follow‐up visits to assess the consistency of the subtypes longitudinally. We compared the specific mutations and clinical and neuropsychological test scores of individuals assigned to each subtype. Result: SuStaIn identified two groups of MAPT carriers with distinct atrophy patterns (Figure 1), which we termed a 'temporal' subtype and a 'frontotemporal' subtype. The subtype assignments were consistent at follow‐up visits (Table 1): there were no individuals that changed from the temporal to the frontotemporal subtype or vice‐versa. Subtype assignment was strongly associated with IVS10+16, R406W and P301L mutations (Table 2): there was a one‐to‐one mapping between IVS10+16 and R406W mutations and the temporal subtype, and a near one‐to‐one mapping between P301L mutations and the frontotemporal subtype. The temporal subtype was associated with memory problems, whereas the frontotemporal subtype was associated with worse performance on tests of attention and visuospatial skills (Table 3). Conclusion: Our results demonstrate the utility of SuStaIn for identifying disease subgroups and associating imaging patterns with genetics and cognition. We show that different MAPT mutations give rise to distinct atrophy patterns and clinical syndromes, providing insights into the underlying disease biology, and potential utility for patient stratification. [ABSTRACT FROM AUTHOR]
Published: 2020
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44. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in expansion carriers in the GENFI cohort.

Author: Convery, Rhian S., Bocchetta, Martina, Greaves, Caroline V., Moore, Katrina M., Cash, David M., Van Swieten, John, Moreno, Fermin, Sánchez-Valle, Raquel, Borroni, Barbara, Laforce Jr, Robert, Masellis, Mario, Tartaglia, Maria Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, and Tagliavini, Fabrizio
Subjects: PAIN perception, GENETIC carriers, BEHAVIOR, VOXEL-based morphometry, ATROPHY, FRONTOTEMPORAL lobar degeneration, FRONTAL lobe, PAIN, DNA, NERVE tissue proteins, GENETIC mutation, TEMPORAL lobe, PERCEPTUAL disorders, BASAL ganglia, MAGNETIC resonance imaging, THALAMUS, CEREBELLUM, SYMPTOMS, RESEARCH funding, LOGISTIC regression analysis, CEREBRAL cortex, FRONTOTEMPORAL dementia, LONGITUDINAL method
Abstract: Objective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI).Methods: Abnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception.Results: Altered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum.Conclusion: Changes in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network. [ABSTRACT FROM AUTHOR]
Published: 2020
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45. GENFI IGNITE: A NOVEL COGNITIVE ASSESSMENT APP FOR TESTING PRESYMPTOMATIC FRONTOTEMPORAL DEMENTIA

Author: Moore, Katrina M., Nicholas, Jennifer M., Convery, Rhian S., Greaves, Caroline V., Bocchetta, Martina, Neason, Mollie R., Cash, David M., Gerhard, Alexander, Butler, Christopher R., Rowe, James B., and Rohrer, Jonathon D.
Published: 2019
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46. DEPRESSION AND ANXIETY IN THE ‘AT-RISK’ PHASE OF FAMILIAL FRONTOTEMPORAL DEMENTIA

Author: Greaves, Caroline V., Moore, Katrina M., Shafei, Rachelle, and Rohrer, Jonathan D.
Published: 2019
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47. COMPARING THE EFFECTIVENESS OF BRIEF COGNITIVE ASSESSMENTS IN BEHAVIOURAL VARIANT FRONTOTEMPORAL DEMENTIA

Author: Convery, Rhian S., Moore, Katrina M., Bocchetta, Martina, Russell, Lucy L., Greaves, Caroline V., Neason, Mollie R., Shafei, Rachelle, Woollacott, Ione OC., Warren, Jason D., and Rohrer, Jonathan D.
Published: 2019
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48. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72expansion carriers in the GENFI cohort

Author: Convery, Rhian S, Bocchetta, Martina, Greaves, Caroline V, Moore, Katrina M, Cash, David M, Van Swieten, John, Moreno, Fermin, Sánchez-Valle, Raquel, Borroni, Barbara, Laforce Jr, Robert, Masellis, Mario, Tartaglia, Maria Carmela, Graff, Caroline, Galimberti, Daniela, Rowe, James B, Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Christopher, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D, and Rohrer, Jonathan D
Abstract: ObjectiveFrontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI).MethodsAbnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72(104), GRN(128) and MAPT(49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception.ResultsAltered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum.ConclusionChanges in pain perception are a feature of C9orf72expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.
Published: 2020
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49. Author Correction: Tau-targeting antisense oligonucleotide MAPTRxin mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author: Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.
Published: 2024
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50. Longitudinal (18F)AV-1451 PET imaging in a patient with frontotemporal dementia due to a Q351R MAPT mutation.

Author: Convery, Rhian S., Jieqing Jiao, Clarke, Mica T. M., Moore, Katrina M., Koriath, Carolin A. M., Woollacott, Ione O. C., Weston, Philip S. J., Gunn, Roger, Rabiner, Ilan, Cash, David M., Rossor, Martin N., Warren, Jason D., Fox, Nick C., Ourselin, Sebastien, Bocchetta, Martina, Rohrer, Jonathan D., and Jiao, Jieqing
Subjects: FRONTOTEMPORAL dementia, FRONTOTEMPORAL lobar degeneration, DEMENTIA patients, POSITRON emission tomography
Published: 2020
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