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1. Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers

Author

VandeBunte, Anna M, Lee, Hyunwoo, Paolillo, Emily W, Hsiung, Ging‐Yuek Robin, Staffaroni, Adam M, Saloner, Rowan, Tartaglia, Carmela, Yaffe, Kristine, Knopman, David S, Ramos, Eliana Marisa, Rascovsky, Katya, Bozoki, Andrea C, Wong, Bonnie, Domoto‐Reilly, Kimiko, Snyder, Allison, Pressman, Peter, Mendez, Mario F, Litvan, Irene, Fields, Julie A, Galasko, Douglas R, Darby, Ryan, Masdeu, Joseph C, Pasqual, Maria Belen, Honig, Lawrence S, Ghoshal, Nupur, Appleby, Brian S, Mackenzie, Ian R, Heuer, Hilary W, Kramer, Joel H, Boxer, Adam L, Forsberg, Leah K, Boeve, Brad, Rosen, Howard J, Casaletto, Kaitlin B, and Consortium, the ALLFTD

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Dementia, Neurodegenerative, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Behavioral and Social Science, Aging, Neurosciences, Cardiovascular, Basic Behavioral and Social Science, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease, Brain Disorders, Prevention, Acquired Cognitive Impairment, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Neurological, Good Health and Well Being, Humans, Male, Female, Frontotemporal Lobar Degeneration, Middle Aged, Disease Progression, Neuropsychological Tests, Magnetic Resonance Imaging, White Matter, Heterozygote, Aged, Cognitive Dysfunction, Brain, Neuroimaging, aging, cardiovascular health, frontotemporal dementia, genetic dementia, Life's Simple 7, lifestyle behaviors, modifiable risk, neuropsychology, ALLFTD Consortium, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionCardiovascular health is important for brain aging, yet its role in the clinical manifestation of autosomal dominant or atypical forms of dementia has not been fully elucidated. We examined relationships between Life's Simple 7 (LS7) and clinical trajectories in individuals with autosomal dominant frontotemporal lobar degeneration (FTLD).MethodsTwo hundred forty-seven adults carrying FTLD pathogenic genetic variants (53% asymptomatic) and 189 non-carrier controls completed baseline LS7, and longitudinal neuroimaging and neuropsychological testing.ResultsAmong variant carriers, higher baseline LS7 is associated with slower accumulation of frontal white matter hyperintensities (WMHs), as well as slower memory and language declines. Higher baseline LS7 associated with larger baseline frontotemporal volume, but not frontotemporal volume trajectories.DiscussionBetter baseline cardiovascular health related to slower cognitive decline and accumulation of frontal WMHs in autosomal dominant FTLD. Optimizing cardiovascular health may be an important modifiable approach to bolster cognitive health and brain integrity in FTLD.HighlightsBetter cardiovascular health associates with slower cognitive decline in frontotemporal lobar degeneration (FTLD). Lifestyle relates to the accumulation of frontal white matter hyperintensities in FTLD. More optimal cardiovascular health associates with greater baseline frontotemporal lobe volume. Optimized cardiovascular health relates to more favorable outcomes in genetic dementia.

Published
2024

2. Demographic and psychosocial factors associated with the decision to learn mutation status in familial frontotemporal dementia and the impact of disclosure on mood

Author

Bajorek, Lynn P, Kiekhofer, Rachel, Hall, Matthew, Taylor, Joanne, Lucente, Diane E, Brushaber, Danielle, Appleby, Brian, Coppolla, Giovanni, Bordelon, Yvette M, Botha, Hugo, Dickerson, Brad C, Dickson, Dennis W, Domoto‐Reilly, Kimiko, Fagan, Anne M, Fields, Julie A, Fong, Jamie C, Foroud, Tatiana M, Forsberg, Leah K, Galasko, Doug R, Gavrilova, Ralitza H, Geschwind, Daniel H, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Neill R, Graff‐Radford, Jonathan, Grant, Ian, Grossman, Murray, Heuer, Hilary W, Hsiung, Ging‐Yuek Robin, Huang, Eric J, Huey, Edward D, Irwin, David J, Jones, David T, Kantarci, Kejal, Kornak, John, Kremers, Walter K, Lapid, Maria I, Leger, Gabriel C, Litvan, Irene, Ljubenkov, Peter A, Mackenzie, Ian R, Masdeu, Joseph C, McMillan, Corey, Mendez, Mario, Miller, Bruce L, Miyagawa, Toji, Onyike, Chiadi U, Pascual, Belen, Pedraza, Otto, Petrucelli, Leonard, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P, Rascovsky, Katya, Rexach, Jessica E, Ritter, Aaron, Roberson, Erik D, Savica, Rodolfo, Rojas, Julio C, Seeley, William W, Tartaglia, Maria Carmela, Toga, Arthur W, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Vandevrede, Lawren, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Staffaroni, Adam M, and Consortium, ALLFTD

Subjects
Clinical Trials and Supportive Activities, Aging, Dementia, Genetics, Neurodegenerative, Clinical Research, Prevention, Acquired Cognitive Impairment, Mental Health, Depression, Brain Disorders, Clinical Sciences, Neurosciences, Geriatrics
Abstract

BACKGROUND: Up to 30% of frontotemporal dementia (FTD) cases are due to known pathogenic mutations (f-FTD). Little is known about the factors that predict who will choose to learn their results. Upcoming clinical trials in f-FTD may require disclosure prior to enrollment, even before symptom onset, and thus characterizing this sample is important. Furthermore, understanding the mood impacts of genetic disclosure may guide genetic counseling practice. METHOD: F-FTD participants (n=568) from families with a known pathogenic mutation (MAPT, C9orf72, GRN) were enrolled through the ARTFL/LEFFTDS Longitudinal FTD Study (ALLFTD) and provided the opportunity for disclosure. Independent-sample t-tests compared demographic and psychosocial factors between participants who did and did not receive their results. In participants who were asymptomatic at baseline and follow up (n=199,177 with follow-up), linear mixed effects modeling was used to investigate pre- to post-disclosure changes in the 15-item Geriatric Depression Scale (GDS). RESULT: Of participants from families with a known pathogenic genetic mutation, 47% received genetic disclosure. Of the asymptomatic subset (n=386), 36% know their mutation status. Of these asymptomatic learners, 46% received disclosure through the study, and the remainder learned their genetic status prior to study enrollment. None of the analyzed demographic or psychosocial factors (i.e., sex, age, education, having children) differed between learners and non-learners (p's > 0.05). In the longitudinal analysis of asymptomatic participants, learners showed a pre- to post-increase of 0.31 GDS points/year (95%CI: -0.08, 0.69, p = 0.12), whereas non-learners showed a slight decline (-0.15 points/year, 95%CI: -0.36, 0.06, p = 0.16). This difference between slopes was statistically significant (0.46, 95%CI: 0.02, 0.89, p=0.04) but represents a small clinical effect. In asymptomatic learners, slopes did not differ based on mutation status (0.28, 95%CI: -0.66, 1.20, p=0.55). Conclusions were based on the estimates and full range of confidence intervals. CONCLUSION: The majority of asymptomatic research participants do not know their genetic status, which will be a consideration for clinical trials that require disclosure. No considered demographic factors were strongly associated with the decision to receive disclosure. The findings suggest that disclosure in asymptomatic participants has minimal impact on depressive symptoms regardless of genetic results.

Published
2021

3. Gearing up for the future: Exploring facilitators and barriers to inform clinical trial design in frontotemporal lobar degeneration

Author

Banga, Yasmin B, Lai, Yujung, Kim, Priscilla, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Forsberg, Leah K, Heuer, Hilary W, Brushaber, Danielle, Appleby, Brian, Biernacka, Joanna M, Bordelon, Yvette M, Botha, Hugo, Bozoki, Andrea C, Brannelly, Patrick, Dickerson, Brad C, Dickinson, Susan, Dickson, Dennis W, Domoto‐Reilly, Kimiko, Faber, Kelley, Fagan, Anne M, Fields, Julie A, Fishman, Ann, Foroud, Tatiana M, Galasko, Doug R, Gavrilova, Ralitza H, Gendron, Tania F, Geschwind, Daniel H, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill R, Grant, Ian, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huang, Eric J, Huey, Edward D, Irwin, David J, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Knopman, David S, Kramer, Joel H, Kremers, Walter K, Kornak, John, Kukull, Walter A, Lagone, Emma, Leger, Gabriel C, Litvan, Irene, Ljubenkov, Peter A, Lucente, Diane E, Mackenzie, Ian R, Manoochehri, Masood, Masdeu, Joseph C, McGinnis, Scott, Mendez, Mario F, Miller, Bruce L, Miyagawa, Toji, Nelson, Kevin M, Onyike, Chiadi U, Pantelyat, Alex, Pascual, Belen, Pearlman, Rodney, Petrucelli, Leonard, Pottier, Cyril P, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P, Rascovsky, Katya, Rexach, Jessica E, Ritter, Aaron, Roberson, Erik D, Rojas, Julio C, Sabbagh, Marwan N, Salmon, David P, Savica, Rodolfo, Seeley, William W, Staffaroni, Adam M, Syrjanen, Jeremy A, Tartaglia, Maria Carmela, Tatton, Nadine, Taylor, Jack C, Toga, Arthur W, Weintraub, Sandra, Wheaton, Diana, Wong, Benjamin, Wszolek, Zbigniew, and Consortium, ALLFTD

Subjects
Frontotemporal Dementia (FTD), Rare Diseases, Behavioral and Social Science, Neurodegenerative, Acquired Cognitive Impairment, Basic Behavioral and Social Science, Brain Disorders, Clinical Research, Dementia, Aging, Biomedical Imaging, Clinical Trials and Supportive Activities, Neurological, Clinical Sciences, Neurosciences, Geriatrics
Abstract

BACKGROUND: Frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative conditions, affecting the frontal and/or temporal lobes. Ongoing research has provided insight into developing clinical trials for FTLD and key clinical measures such as structural MRI. To inform clinical trial design and optimize participation, it is imperative to explore facilitators and barriers for potential candidates. OBJECTIVE: The objective of this study is to explore facilitators and barriers to participating in future clinical trials for FTLD. METHODS: Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) are observational studies focused on characterizing FTLD syndromes in preparation for clinical trials. The 584 participants enrolled across 18 research sites in the United States and Canada completed a survey assessing interest in clinical trial participation. RESULTS: 29% of respondents self-reported as patients (63±10 years), 26% self-reported as caregivers answering on behalf of patients (65±10 years), and 45% self-reported as healthy but at risk for FTLD (48±14 years). Travel reimbursement was the most common factor reported to positively influence participation (≧66%), with the healthy but at risk group showing the strongest endorsement (83%). Cost and time involved in travel were possible barriers for about half of the patients (48%) and healthy but at risk respondents (53%). The respondents value receiving feedback on the study findings (≧80%) and being informed of their individual disease progression (≧75%). Particularly, keeping participation confidential was very important for the healthy but at risk group (62%). In regard to research assessments, most participants demonstrated a high interest in physical and neurological exams at a research center (≧87%) whereas only half were interested in doing more invasive procedures such as the lumbar puncture (≧52%). Overall, respondents showed a positive attitude and support for research participation (≧77%) and trusted that their health information would remain confidential in a clinical trial (≧53%). CONCLUSIONS: Favorable attitudes and interest towards medical research exist among participants. To optimize participation, clinical trials should allocate funding for travel and involve participants in feedback about study results and their disease progression. Alternatives to invasive assessments may increase participation.

Published
2021

4. Presymptomatic and symptomatic MAPT mutation carriers feature functional connectivity alterations

Author

Zhang, Liwen, Flagan, Taru M, Chu, Stephanie A, Häkkinen, Suvi, Brown, Jesse A, Lee, Alex Jihun, Pasquini, Lorenzo, Mandelli, Maria Luisa, Tempini, Maria Luisa Gorno, Appleby, Brian, Dickerson, Brad C, Domoto‐Reilly, Kimiko, Geschwind, Daniel H, Ghoshal, Nupur, Graff‐Radford, Neill R, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huey, Edward D, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Knopman, David S, Litvan, Irene, Mackenzie, Ian R, Mendez, Mario, Onyike, Chiadi U, Ramos, Eliana Marisa, Roberson, Erik D, Trataglia, Maria Carmela, Toga, Arthur W, Weintraub, Sandra, Forsberg, Leah K, Heuer, Hilary W, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Miller, Bruce L, Seeley, William W, Lee, Suzee E, and Consortia, ARTFL LEFFTDS

Subjects
Brain Disorders, Clinical Research, Neurodegenerative, Biomedical Imaging, Rare Diseases, Neurosciences, Dementia, Acquired Cognitive Impairment, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurological, Clinical Sciences, Geriatrics
Published
2021

5. Studying the natural history of frontotemporal lobar degeneration (FTLD): The ARTFL LEFFTDS longitudinal FTLD (ALLFTD) protocol

Author

Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Forsberg, Leah K, Heuer, Hilary W, Brushaber, Danielle, Appleby, Brian, Biernacka, Joanna M, Bordelon, Yvette M, Botha, Hugo, Brannelly, Patrick, Dickerson, Brad C, Dickson, Dennis W, Kimiko, Domoto‐Reilly, Faber, Kelley, Fagan, Anne, Fields, Julie A, Fishman, Ann, Foroud, Tatiana M, Galasko, Doug R, Gavrilova, Ralitza H, Gendron, Tania F, Geschwind, Daniel H, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill R, Grant, Ian, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huang, Eric J, Huey, Edward, Irwin, David J, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Knopman, David S, Kramer, Joel H, Kremers, Walter K, Kornak, John, Kukull, Walter A, Lagone, Emma, Leger, Gabriel C, Litvan, Irene, Ljubenkov, Peter A, Lucente, Diane E, Mackenzie, Ian R, Manoochehri, Masood, Masdeu, Joseph C, McGinnis, Scott, Mendez, Mario F, Miller, Bruce L, Miyagawa, Toji, Nelson, Kevin M, Onyike, Chiadi U, Pantelyat, Alex, Pascual, Belen, Pearlman, Rodney, Petrucelli, Leonard, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Rexach, Jessica E, Ritter, Aaron, Roberson, Erik D, Rojas, Julio C, Sabbagh, Marwan N, Salmon, David P, Savica, Rodolfo, Seeley, William W, Staffaroni, Adam M, Syrjanen, Jeremy, Tartaglia, Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W, Weintraub, Sandra, Wheaton, Diana, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Brain Disorders, Rare Diseases, Acquired Cognitive Impairment, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Trials and Supportive Activities, Clinical Research, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), Genetics, Neurosciences, Dementia, 2.1 Biological and endogenous factors, Geriatrics, Clinical Sciences
Published
2020

6. Plasma neurofilament light chain levels reflect caregiver burden and social cognition measures in familial frontotemporal lobar degeneration (FTLD)

Author

Heuer, Hilary W, Rojas, Julio C, Toller, Gianina, Rankin, Katherine, Brushaber, Danielle, Appleby, Brian, Bordelon, Yvette M, Dickerson, Brad C, Kimiko, Domoto‐Reilly, Faber, Kelley, Foroud, Tatiana M, Forsberg, Leah K, Ghoshal, Nupur, Grant, Ian, Graff‐Radford, Neill R, Grossman, Murray, Hsiung, Ging‐Yuek Robin, Huey, Edward D, Karydas, Anna M, Kaufer, Daniel, Kerwin, Diana R, Lagone, Emma, Litvan, Irene, Ljubenkov, Peter A, Mackenzie, Ian R, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi U, Ramos, Eliana Marisa, Rascovsky, Katya, Roberson, Erik D, Tartaglia, Carmela, Weintraub, Sandra, Boeve, Bradley F, Rosen, Howard J, and Boxer, Adam L

Subjects
Neurodegenerative, Clinical Trials and Supportive Activities, Acquired Cognitive Impairment, Genetics, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Neurosciences, Dementia, Clinical Research, Brain Disorders, Behavioral and Social Science, Neurological, Geriatrics, Clinical Sciences
Published
2020

7. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

Author

Gentry, Melanie T, Lapid, Maria I, Syrjanen, Jeremy, Calvert, Kendrick, Hughes, Samantha, Brushaber, Danielle, Kremers, Walter, Bove, Jessica, Brannelly, Patrick, Coppola, Giovanni, Dheel, Christina, Dickerson, Bradley, Dickinson, Susan, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Deb, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grossman, Murray, Haley, Dana, Heuer, Hilary, Hsiung, Ging‐Yuek, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Knopman, David, Kornak, John, Kramer, Joel, Kukull, Walter, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian, Manoochehri, Masood, McGinnis, Scott, Miller, Bruce, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Sengdy, Pheth, Shaw, Leslie, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boeve, Bradley F, Boxer, Adam, Rosen, Howard, and Consortium, the LEFFTDS

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Frontotemporal Dementia (FTD), Dementia, Brain Disorders, Behavioral and Social Science, Burden of Illness, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Caregiving Research, Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease Related Dementias (ADRD), Clinical Research, Alzheimer's Disease, Adolescent, Adult, Aged, Aged, 80 and over, Caregivers, Cohort Studies, Cost of Illness, Female, Frontotemporal Lobar Degeneration, Humans, Longitudinal Studies, Male, Middle Aged, Quality of Life, Young Adult, C9orf72, frontotemporal dementia, GRN, MAPT, quality of life, tau, TDP-43, LEFFTDS Consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

ObjectiveThe Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects evaluates familial frontotemporal lobar degeneration (FTLD) kindreds with MAPT, GRN, or C9orf72 mutations. Objectives were to examine whether health-related quality of life (HRQoL) correlates with clinical symptoms and caregiver burden, and whether self-rated and informant-rated HRQoL would correlate with each other.MethodsIndividuals were classified using the Clinical Dementia Rating (CDR® ) Scale plus National Alzheimer's Coordinating Center (NACC) FTLD. HRQoL was measured with DEMQOL and DEMQOL-proxy; caregiver burden with the Zarit Burden Interview (ZBI). For analysis, Pearson correlations and weighted kappa statistics were calculated.ResultsThe cohort of 312 individuals included symptomatic and asymptomatic individuals. CDR® plus NACC FTLD was negatively correlated with DEMQOL (r = -0.20, P = .001), as were ZBI and DEMQOL (r = -0.22, P = .0009). There was fair agreement between subject and informant DEMQOL (κ = 0.36, P

Published
2020

8. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

Author

Boeve, Bradley, Bove, Jessica, Brannelly, Patrick, Brushaber, Danielle, Coppola, Giovanni, Dever, Rielly, Dheel, Christina, Dickerson, Bradford, Dickinson, Susan, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Ghoshal, Nupur, Goldman, Jennifer, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grossman, Murray, Haley, Dana, Heuer, Hilary, Hsiung, Ging‐Yuek Robin, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Knopman, David, Kornak, John, Kraft, Ruth, Kramer, Joel, Kremers, Walter, Kukull, Walter, Lapid, Maria, Lucente, Diane, Mackenzie, Ian, Manoochehri, Masood, McGinnis, Scott, Miller, Bruce, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Kate, Rascovsky, Katya, Sengdy, Pheth, Shaw, Les, Syrjanen, Jeremy, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam, Rosen, Howard, and Consortium, on Behalf of the LEFFTDS

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Frontotemporal Dementia (FTD), Dementia, Aging, Brain Disorders, Clinical Research, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Rare Diseases, Clinical Trials and Supportive Activities, Alzheimer's Disease Related Dementias (ADRD), Biomedical Imaging, Acquired Cognitive Impairment, Neurodegenerative, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Adult, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neuropsychological Tests, tau Proteins, C9orf72, Frontotemporal dementia, Genetics, GRN, MAPT, Tau, TDP-43, LEFFTDS Consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionIt is important to establish the natural history of familial frontotemporal lobar degeneration (f-FTLD) and provide clinical and biomarker data for planning these studies, particularly in the asymptomatic phase.MethodsThe Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects protocol was designed to enroll and follow at least 300 subjects for more than at least three annual visits who are members of kindreds with a mutation in one of the three most common f-FTLD genes-microtubule-associated protein tau, progranulin, or chromosome 9 open reading frame 72.ResultsWe present the theoretical considerations of f-FTLD and the aims/objectives of this protocol. We also describe the design and methodology for evaluating and rating subjects, in which detailed clinical and neuropsychological assessments are performed, biofluid samples are collected, and magnetic resonance imaging scans are performed using a standard protocol.DiscussionThese data and samples, which are available to interested investigators worldwide, will facilitate planning for upcoming disease-modifying therapeutic trials in f-FTLD.

Published
2020

9. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

Author

Staffaroni, Adam M, Cobigo, Yann, Goh, Sheng‐Yang M, Kornak, John, Bajorek, Lynn, Chiang, Kevin, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford C, Dickinson, Susan, Dominguez, Sophia, Domoto‐Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie A, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K, Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Heuer, Hilary W, Hsiung, Ging‐Yuek, Huey, Edward D, Irwin, David J, Jones, David T, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel I, Kerwin, Diana R, Knopman, David S, Kraft, Ruth, Kramer, Joel H, Kremers, Walter K, Kukull, Walter A, Litvan, Irene, Ljubenkov, Peter A, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R, Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M, McKinley, Emily, Mendez, Mario F, Miller, Bruce L, Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine P, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M, Syrjanen, Jeremy, Tartaglia, M Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Weintraub, Sandra, Wang, Ping, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L, Boeve, Brad F, Rosen, Howard J, and consortium, on behalf of the ARTFL LEFFTDS

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Frontotemporal Dementia (FTD), Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Brain Disorders, Aging, Alzheimer's Disease Related Dementias (ADRD), Neurological, Atrophy, Brain, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neuropsychological Tests, Progranulins, tau Proteins, Frontotemporal dementia, Genetics, Magnetic resonance imaging, Tau, TDP-43, ARTFL/LEFFTDS consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionSome models of therapy for neurodegenerative diseases envision starting treatment before symptoms develop. Demonstrating that such treatments are effective requires accurate knowledge of when symptoms would have started without treatment. Familial frontotemporal lobar degeneration offers a unique opportunity to develop predictors of symptom onset.MethodsWe created dementia risk scores in 268 familial frontotemporal lobar degeneration family members by entering covariate-adjusted standardized estimates of brain atrophy into a logistic regression to classify asymptomatic versus demented participants. The score's predictive value was tested in a separate group who were followed up longitudinally (stable vs. converted to dementia) using Cox proportional regressions with dementia risk score as the predictor.ResultsCross-validated logistic regression achieved good separation of asymptomatic versus demented (accuracy = 90%, SE = 0.06). Atrophy scores predicted conversion from asymptomatic or mildly/questionably symptomatic to dementia (HR = 1.51, 95% CI: [1.16,1.98]).DiscussionIndividualized quantification of baseline brain atrophy is a promising predictor of progression in asymptomatic familial frontotemporal lobar degeneration mutation carriers.

Published
2020

10. Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

Author

Miyagawa, Toji, Brushaber, Danielle, Syrjanen, Jeremy, Kremers, Walter, Fields, Julie, Forsberg, Leah K, Heuer, Hilary W, Knopman, David, Kornak, John, Boxer, Adam, Rosen, Howard J, Boeve, Bradley F, Appleby, Brian, Bordelon, Yvette, Bove, Jessica, Brannelly, Patrick, Caso, Christina, Coppola, Giovanni, Dever, Reilly, Dheel, Christina, Dickerson, Bradford, Dickinson, Susan, Dominguez, Sophia, Domoto‐Reilly, Kimiko, Faber, Kelley, Ferrell, Jessica, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Gavrilova, Ralitza, Gearhart, Debra, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill S, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Robin, Huey, Edward, Irwin, David, Jones, David, Jones, Lynne, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Kraft, Ruth, Kramer, Joel, Kukull, Walter, Litvan, Irene, Lucente, Diane, Lungu, Codrin, Mackenzie, Ian, Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott, McKinley, Emily, Mendez, Mario F, Miller, Bruce, Multani, Namita, Onyike, Chiadi, Padmanabhan, Jaya, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Leonard, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana M, Rankin, Kate, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie, Tartaglia, Maria C, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Wang, Ping, Weintraub, Sandra, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Aphasia, Aging, Neurosciences, Acquired Cognitive Impairment, Alzheimer's Disease Related Dementias (ADRD), Frontotemporal Dementia (FTD), Clinical Trials and Supportive Activities, Dementia, Clinical Research, Rare Diseases, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Aged, Aphasia, Primary Progressive, Cross-Sectional Studies, Female, Frontotemporal Lobar Degeneration, Humans, Male, Mental Status and Dementia Tests, Middle Aged, behavior, comportment, personality, CDR, CDR plus NACC FTLD, frontotemporal lobar degeneration, global rating, language, CDR®, behavior, comportment, and personality, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionWe created global rating scoring rules for the CDR® plus NACC FTLD to detect and track early frontotemporal lobar degeneration (FTLD) and to conduct clinical trials in FTLD.MethodsThe CDR plus NACC FTLD rating was applied to 970 sporadic and familial participants from the baseline visit of Advancing Research and Treatment in Frontotemporal Lobar Degeneration (ARTFL)/Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS). Each of the eight domains of the CDR plus NACC FTLD was equally weighed in determining the global score. An interrater reliability study was completed for 40 participants.ResultsThe CDR plus NACC FTLD showed very good interrater reliability. It was especially useful in detecting clinical features of mild non-fluent/agrammatic variant primary progressive aphasia participants.DiscussionThe global CDR plus NACC FTLD score could be an attractive outcome measure for clinical trials in symptomatic FTLD, and may be useful in natural history studies and clinical trials in FTLD spectrum disorders.

Published
2020

11. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

Author

Ramos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y, Deverasetty, Sandeep, Qin, Yue, van Blitterswijk, Marka, Jackson, Jazmyne, Appleby, Brian, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle E, Dickerson, Bradford, Dickinson, Susan, Domoto‐Reilly, Kimiko, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K, Gavrilova, Ralitza, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill, Grant, Ian, Grossman, Murray, Heuer, Hilary W, Hsiung, Ging‐Yuek R, Huey, Edward, Irwin, David, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Knopman, David, Kornak, John, Kramer, Joel H, Kremers, Walter, Kukull, Walter, Litvan, Irene, Ljubenkov, Peter, Lungu, Codrin, Mackenzie, Ian, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rankin, Katherine P, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily, Shaw, Leslie, Syrjanen, Jeremy, Tartaglia, Maria Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Rademakers, Rosa, Boeve, Brad F, Rosen, Howard J, Boxer, Adam L, consortium, on behalf of the ARTFL LEFFTDS, and Coppola, Giovanni

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Dementia, Genetic Testing, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Genetics, Clinical Research, Alzheimer's Disease Related Dementias (ADRD), Rare Diseases, Frontotemporal Dementia (FTD), Brain Disorders, Aging, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Neurological, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Progranulins, tau Proteins, C9orf72, familial, frontotemporal dementia, GRN, MAPT, sporadic, ARTFL/LEFFTDS consortium, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionThe Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.MethodsWe screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies.ResultsAmong the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes.DiscussionOur study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history.

Published
2020

12. Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

Author

Olney, Nicholas T, Ong, Elise, Goh, Sheng‐Yang M, Bajorek, Lynn, Dever, Reilly, Staffaroni, Adam M, Cobigo, Yann, Bock, Meredith, Chiang, Kevin, Ljubenkov, Peter, Kornak, John, Heuer, Hilary W, Wang, Ping, Rascovsky, Katya, Wolf, Amelia, Appleby, Brian, Bove, Jessica, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle, Caso, Christine, Coppola, Giovanni, Dickerson, Bradford C, Dickinson, Susan, Domoto‐Reilly, Kimiko, Faber, Kelly, Ferrall, Jessica, Fields, Julie, Fishman, Ann, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K, Gearhart, Debra J, Ghazanfari, Behnaz, Ghoshal, Nupur, Goldman, Jill, Graff‐Radford, Jonathan, Graff‐Radford, Neill R, Grant, Ian, Grossman, Murray, Haley, Dana, Hsiung, Gingyuek, Huey, Edward D, Irwin, David J, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Kerwin, Diana, Knopman, David S, Kramer, Joel H, Kraft, Ruth, Kremers, Walter, Kukull, Walter, Lapid, Maria I, Litvan, Irene, Mackenzie, Ian R, Maldonado, Miranda, Manoochehri, Masood, McGinnis, Scott M, McKinley, Emily C, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Len, Potter, Madeleine, Rademakers, Rosa, Ramos, Eliana M, Rankin, Katherine P, Roberson, Erik D, Rogalski, Emily, Sengdy, Pheth, Shaw, Leslie M, Syrjanen, Jeremy, Tartaglia, M Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q, Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Boxer, Adam L, Boeve, Brad F, Rosen, Howard J, and consortia, on behalf of the ARTFL and LEFFTDS

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Biomedical Imaging, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease Related Dementias (ADRD), Neurodegenerative, Rare Diseases, Frontotemporal Dementia (FTD), Clinical Research, Basic Behavioral and Social Science, Brain Disorders, Acquired Cognitive Impairment, Behavioral and Social Science, Alzheimer's Disease, Neurosciences, Aging, 2.1 Biological and endogenous factors, Neurological, Atrophy, C9orf72 Protein, Female, Frontotemporal Lobar Degeneration, Genetic Predisposition to Disease, Humans, Image Processing, Computer-Assisted, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Progranulins, Temporal Lobe, tau Proteins, C9ORF72, Familial, Frontotemporalobar degeneration, Genetic, GRN, MAPT, ARTFL and LEFFTDS consortia, Frontotemporal lobar degeneration, Clinical Sciences, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionThe Advancing Research and Treatment in Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects longitudinal studies were designed to describe the natural history of familial-frontotemporal lobar degeneration due to autosomal dominant mutations.MethodsWe examined cognitive performance, behavioral ratings, and brain volumes from the first time point in 320 MAPT, GRN, and C9orf72 family members, including 102 non-mutation carriers, 103 asymptomatic carriers, 43 mildly/questionably symptomatic carriers, and 72 carriers with dementia.ResultsAsymptomatic carriers showed similar scores on all clinical measures compared with noncarriers but reduced frontal and temporal volumes. Those with mild/questionable impairment showed decreased verbal recall, fluency, and Trail Making Test performance and impaired mood and self-monitoring. Dementia was associated with impairment in all measures. All MAPT carriers with dementia showed temporal atrophy, but otherwise, there was no single cognitive test or brain region that was abnormal in all subjects.DiscussionImaging changes appear to precede clinical changes in familial-frontotemporal lobar degeneration, but specific early clinical and imaging changes vary across individuals.

Published
2020

13. P2-314: THE MULTIDOMAIN IMPAIRMENT RATING (MIR) SCALE: INITIAL RELIABILITY DATA ON A MULTIDIMENSIONAL SCALE DESIGNED FOR FTLD SPECTRUM DISORDERS

Author

Forsberg, Leah K, Boeve, Bradley F, Boxer, Adam L, Rosen, Howard J, Kornak, John, Heuer, Hilary W, Fields, Julie A, Brushaber, Danielle, Machulda, Mary M, Sturm, Virginia, Staffaroni, Adam M, Ljubenkov, Peter A, Denver, Reilly, Ong, Elise, Appleby, Brian, Bordelon, Yvette M, Brannelly, Patrick, Coppola, Giovanni, Dickerson, Brad C, Dickinson, Susan, Kimiko, Domoto-Reilly, Faber, Kelley, Fong, Jamie, Foroud, Tatiana M, Gavrilova, Ralitza H, Gearhart, Debra, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neil R, Grossman, Murray, Robin Hsiung, Ging-Yuek, Huey, Edward D, Irwin, David, Jones, David T, Kantarci, Kejal, Karydas, Anna M, Kaufer, Daniel, Kerwin, Diana R, Knopman, David S, Kraft, Ruth A, Kramer, Joel H, Kremers, Walter K, Kukull, Walter A, Litvan, Irene, Lucente, Diane E, Lungu, Codrin, Mackenzie, Ian R, McGinnis, Scott M, Mendez, Mario F, Miller, Bruce L, Onyike, Chiadi U, Pantelyat, Alex, Pearlman, Rodney, Petrucelli, Leonard, Potter, Madeline, Rademakers, Rosa, Ramos, Eliana Marisa, Rankin, Katherine, Rascovsky, Katya, Roberson, Erik D, Rogalski, Emily J, Shaw, Leslie M, Sutherland, Marg, Syrjanen, Jeremy, Tartaglia, Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W, Trojanowski, John Q, Weintraub, Sandra, Wong, Bonnie, and Wszolek, Zbigniew

Subjects
Geriatrics, Clinical Sciences, Neurosciences
Published
2019

14. Genetic screen in a large series of patients with primary progressive aphasia

Author

Ramos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y, Miller, Zachary A, Karydas, Anna M, Bigio, Eileen H, Rogalski, Emily, Weintraub, Sandra, Rader, Benjamin, Miller, Bruce L, Gorno‐Tempini, Maria Luisa, Mesulam, Marek‐Marsel, and Coppola, Giovanni

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease Related Dementias (ADRD), Aging, Frontotemporal Dementia (FTD), Genetics, Alzheimer's Disease, Clinical Research, Acquired Cognitive Impairment, Brain Disorders, Rare Diseases, Neurodegenerative, Aphasia, 2.1 Biological and endogenous factors, Neurological, Aged, Aphasia, Primary Progressive, C9orf72 Protein, Cohort Studies, DNA-Binding Proteins, Female, Frontotemporal Dementia, Humans, Male, Middle Aged, Mutation, Progranulins, Primary progressive aphasia, C9orf72, GRN, TARDBP, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionPrimary progressive aphasia (PPA) is a neurological syndrome, associated with both frontotemporal dementia and Alzheimer's disease, in which progressive language impairment emerges as the most salient clinical feature during the initial stages of disease.MethodsWe screened the main genes associated with Alzheimer's disease and frontotemporal dementia for pathogenic and risk variants in a cohort of 403 PPA cases.ResultsIn this case series study, 14 (3.5%) cases carried (likely) pathogenic variants: four C9orf72 expansions, nine GRN, and one TARDBP mutation. Rare risk variants, TREM2 R47H and MAPT A152T, were associated with a three- to seven-fold increase in risk for PPA.DiscussionOur results show that while pathogenic variants within the most common dementia genes were rarely associated with PPA, these were found almost exclusively in GRN and C9orf72, suggesting that PPA is more TDP43- than tau-related in our series. This is consistent with the finding that PPA frequency in dominantly inherited dementias is the highest in kindreds with GRN variants.

Published
2019

16. Gyrification abnormalities in young adult presymptomatic carriers of frontotemporal lobar degeneration mutations

Author

Vargas, Andrea Gorham, primary, Lombardi, Jolina, additional, Zhang, Liwen, additional, Flagan, Taru M., additional, Mandelli, Maria Luisa, additional, Brown, Jesse A., additional, Rosen, Howard J., additional, Kantarci, Kejal, additional, Ramos, Eliana Marisa, additional, Miller, Bruce L., additional, Seeley, William W., additional, Tempini, Maria Luisa Gorno, additional, and Lee, Suzee E., additional

Published
2023
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17. Neurite‐based white matter alterations in MAPT mutation carriers: A multi‐shell diffusion MRI study in the ALLFTD consortium

Author

Corriveau‐Lecavalier, Nick, primary, Tosakulwong, Nirubol, additional, Lesnick, Timothy G., additional, Reid, Robert I., additional, Schwarz, Christopher G., additional, Senjem, Matthew L., additional, Jack, Clifford R., additional, Jones, David T., additional, Vemuri, Prashanthi, additional, Rademakers, Rosa, additional, Ramos, Eliana Marisa, additional, Geschwind, Daniel H., additional, Knopman, David S., additional, Botha, Hugo, additional, Savica, Rodolfo, additional, Radford, Jonathan Graff, additional, Ramanan, Vijay K, additional, Graff‐Radford, Neill R, additional, Wszolek, Zbigniew, additional, Forsberg, Leah K., additional, Petersen, Ronald C., additional, Heuer, Hilary W., additional, Boxer, Adam L., additional, Rosen, Howard J., additional, Boeve, Brad F., additional, and Kantarci, Kejal, additional

Published
2023
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18. Functional connectivity trajectories in genetic frontotemporal dementia

Author

Zhang, Liwen, primary, Flagan, Taru M., additional, Staffaroni, Adam M., additional, Häkkinen, Suvi, additional, Brown, Jesse A., additional, Mandelli, Maria Luisa, additional, Rosen, Howard J., additional, Kantarci, Kejal, additional, Ramos, Eliana Marisa, additional, Tempini, Maria Luisa Gorno, additional, Miller, Bruce L, additional, Seeley, William W., additional, and Lee, Suzee E., additional

Published
2023
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19. Clinical value of CSF tau, p‐tau181, neurogranin and neurofilaments in familial frontotemporal lobar degeneration

Author

Rojas, Julio C., primary, Heuer, Hilary W., additional, Chen, Weiping, additional, Czerkowicz, Julie, additional, Graham, Danielle, additional, Forsberg, Leah K., additional, Brushaber, Danielle, additional, Appleby, Brian, additional, Ramos, Eliana Marisa, additional, Coppolla, Giovanni, additional, Bordelon, Yvette M., additional, Botha, Hugo, additional, Dickerson, Brad C., additional, Dickson, Dennis W., additional, Domoto‐Reilly, Kimiko, additional, Fagan, Anne M., additional, Fields, Julie A., additional, Fong, Jamie C., additional, Foroud, Tatiana M., additional, Galasko, Doug R., additional, Gavrilova, Ralitza H., additional, Geschwind, Daniel H., additional, Ghoshal, Nupur, additional, Goldman, Jill, additional, Graff‐Radford, Neill R., additional, Graff‐Radford, Jonathan, additional, Grant, Ian, additional, Grossman, Murray, additional, Hsiung, Ging‐Yuek Robin, additional, Huang, Eric J., additional, Huey, Edward D., additional, Irwin, David J., additional, Jones, David T., additional, Kantarci, Kejal, additional, Knopman, David S., additional, Kornak, John, additional, Kremers, Walter K., additional, Lapid, Maria I., additional, Leger, Gabriel C., additional, Litvan, Irene, additional, Ljubenkov, Peter A., additional, Lucente, Diane E., additional, Mackenzie, Ian R, additional, Masdeu, Joseph C., additional, McMillan, Corey T., additional, Mendez, Mario F., additional, Miller, Bruce L., additional, Miyagawa, Toji, additional, Onyike, Chiadi U., additional, Pascual, Belen, additional, Pedraza, Otto, additional, Petrucelli, Leonard, additional, Rademakers, Rosa, additional, Rankin, Katherine P., additional, Rascovsky, Katya, additional, Rexach, Jessica E., additional, Ritter, Aaron, additional, Roberson, Erik D., additional, Savica, Rodolfo, additional, Seeley, William W., additional, Staffaroni, Adam M., additional, Tartaglia, Maria Carmela, additional, Toga, Arthur W., additional, Weintraub, Sandra, additional, Wong, Bonnie, additional, Wszolek, Zbigniew, additional, Vandevrede, Lawren, additional, Boeve, Bradley F., additional, Rosen, Howard J., additional, and Boxer, Adam L., additional

Published
2021
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20. Diagnostic value of plasma P‐tau217 in frontotemporal dementia spectrum disorders

Author

Rojas, Julio C., primary, Vandevrede, Lawren, additional, Heuer, Hilary W., additional, Toller, Gianina, additional, Thijssen, Elisabeth H., additional, Proctor, Nicholas, additional, Forsberg, Leah K., additional, Brushaber, Danielle, additional, Ramos, Eliana Marisa, additional, Coppola, Giovanni, additional, Appleby, Brian, additional, Bordelon, Yvette M., additional, Botha, Hugo, additional, Dickerson, Brad C., additional, Dickson, Dennis W., additional, Domoto‐Reilly, Kimiko, additional, Fagan, Anne M., additional, Fields, Julie A., additional, Fong, Jamie C., additional, Foroud, Tatiana M., additional, Galasko, Doug R., additional, Gavrilova, Ralitza H., additional, Geschwind, Daniel H., additional, Ghoshal, Nupur, additional, Goldman, Jill, additional, Graff‐Radford, Neill R., additional, Graff‐Radford, Jonathan, additional, Grant, Ian, additional, Grossman, Murray, additional, Hsiung, Ging‐Yuek Robin, additional, Huang, Eric J., additional, Huey, Edward D., additional, Irwin, David J., additional, Jones, David T., additional, Kantarci, Kejal, additional, Knopman, David S., additional, Kornak, John, additional, Kremers, Walter K., additional, Lapid, Maria I., additional, Leger, Gabriel C., additional, Litvan, Irene, additional, Ljubenkov, Peter A., additional, Lucente, Diane E., additional, Mackenzie, Ian R., additional, Masdeu, Joseph C., additional, McMillan, Corey T., additional, Mendez, Mario, additional, Miller, Bruce L., additional, Miyagawa, Toji, additional, Onyike, Chiadi U., additional, Pascual, Belen, additional, Pedraza, Otto, additional, Petrucelli, Leonard, additional, Rademakers, Rosa, additional, Rankin, Katherine P., additional, Rascovsky, Katya, additional, Rexach, Jessica E., additional, Ritter, Aaron, additional, Roberson, Erik D., additional, Savica, Rodolfo, additional, Seeley, William W., additional, Staffaroni, Adam M., additional, Trataglia, Maria Carmela, additional, Toga, Arthur W., additional, Weintraub, Sandra, additional, Wong, Bonnie, additional, Wszolek, Zbigniew, additional, Dage, Jeffrey L., additional, Boeve, Bradley F., additional, Rosen, Howard J., additional, and Boxer, Adam L., additional

Published
2021
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21. Neuropsychiatric abnormalities in familial frontotemporal dementia: Findings from the LEFFTDS Cohort

Author

Forsberg, Leah K., primary, Boeve, Bradley F., additional, Rosen, Howard J., additional, Boxer, Adam L., additional, Syrjanen, Jeremy, additional, Brushaber, Danielle, additional, Coppolla, Giovanni, additional, Dickerson, Brad C., additional, Fields, Julie A., additional, Fong, Jamie, additional, Gavrilova, Ralitza H., additional, Ghoshal, Nupur, additional, Goldman, Jill, additional, Graff‐Radford, Jonathan, additional, Graff‐Radford, Neill R., additional, Grossman, Murray, additional, Heuer, Hilary W., additional, Hsiung, Ging‐Yuek Robin, additional, Huey, Edward, additional, Irwin, David J., additional, Jones, David T., additional, Kantarci, Kejal, additional, Karydas, Anna M., additional, Knopman, David S., additional, Kornak, John, additional, Kramer, Joel H., additional, Kremers, Walter K., additional, Kukull, Walter A., additional, Ljubenkov, Peter A., additional, Mackenzie, Ian R., additional, McGinnis, Scott, additional, Miller, Bruce L., additional, Rademakers, Rosa, additional, Ramos, Eliana Marisa, additional, Rankin, Katherine, additional, Rascovsky, Katya, additional, Sturm, Virginia, additional, Staffaroni, Adam M., additional, Taylor, Joanne, additional, Wong, Bonnie, additional, and Wszolek, Zbigniew, additional

Published
2020
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22. Tracking neurodegeneration in frontotemporal dementia and Alzheimer’s disease: A comparative study of plasma tau and neurofilament light chain

Author

Illán‐Gala, Ignacio, primary, Lleó, Alberto, additional, Karydas, Anna M., additional, Staffaroni, Adam M., additional, Zetterberg, Henrik, additional, Sivasankaran, Rajeev, additional, Grinberg, Lea Tenenholz, additional, Spina, Salvatore, additional, Kramer, Joel H., additional, Ramos, Eliana Marisa, additional, Coppolla, Giovanni, additional, Joie, Renaud, additional, Rabinovici, Gil D., additional, Perry, David C., additional, Tempini, Maria Luisa Gorno, additional, Seeley, William W., additional, Rosen, Howard J., additional, Boxer, Adam L., additional, and Rojas, Julio C., additional

Published
2020
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23. P2-329: TRACKING WHITE MATTER DEGENERATION IN ASYMPTOMATIC AND SYMPTOMATIC MAPT MUTATION CARRIERS WITH DTI

Author

Chen, Qin, primary, Boeve, Bradley F., additional, Schwarz, Christopher G., additional, Reid, Robert I., additional, Tosakulwong, Nirubol, additional, Lesnick, Timothy G., additional, Bove, Jessica, additional, Brannelly, Patrick, additional, Brushaber, Danielle, additional, Coppola, Giovanni, additional, Dheel, Christina, additional, Dickerson, Brad C., additional, Dickinson, Susan, additional, Faber, Kelley, additional, Fields, Julie A., additional, Fong, Jamie, additional, Foroud, Tatiana M., additional, Forsberg, Leah K., additional, Gavrilova, Ralitza H., additional, Gearhart, Debra, additional, Ghoshal, Nupur, additional, Goldman, Jill, additional, Graff-Radford, Jonathan, additional, Graff-Radford, Neill R., additional, Grossman, Murray, additional, Haley, Dana, additional, Heuer, Hilary W., additional, Robin Hsiung, Ging-Yuek, additional, Huey, Edward D., additional, Irwin, David, additional, Jack, Clifford R., additional, Jones, David T., additional, Jones, Lynne, additional, Karydas, Anna M., additional, Knopman, David S., additional, Kornak, John, additional, Kramer, Joel H., additional, Kremers, Walter K., additional, Kukull, Walter A., additional, Lapid, Maria I., additional, Lucente, Diane E., additional, Lungu, Codrin, additional, Mackenzie, Ian R., additional, Manoochehri, Masood, additional, McGinnis, Scott, additional, Miller, Bruce L., additional, Pearlman, Rodney, additional, Petrucelli, Leonard, additional, Potter, Madeline, additional, Rademakers, Rosa, additional, Ramos, Eliana Marisa, additional, Rankin, Katherine, additional, Rascovsky, Katya, additional, Sengdy, Pheth, additional, Shaw, Leslie M., additional, Syrjanen, Jeremy, additional, Tatton, Nadine, additional, Taylor, Joanne, additional, Toga, Arthur W., additional, Trojanowski, John Q., additional, Weintraub, Sandra, additional, Wong, Bonnie, additional, Boxer, Adam L., additional, Rosen, Howard J., additional, Wszolek, Zbigniew, additional, and Kantarci, Kejal, additional

Published
2019
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24. Genetic screen in a large series of patients with primary progressive aphasia

Author

Ramos, Eliana Marisa, primary, Dokuru, Deepika Reddy, additional, Van Berlo, Victoria, additional, Wojta, Kevin, additional, Wang, Qing, additional, Huang, Alden Y., additional, Miller, Zachary A., additional, Karydas, Anna M., additional, Bigio, Eileen H., additional, Rogalski, Emily, additional, Weintraub, Sandra, additional, Rader, Benjamin, additional, Miller, Bruce L., additional, Gorno‐Tempini, Maria Luisa, additional, Mesulam, Marek‐Marsel, additional, and Coppola, Giovanni, additional

Published
2018
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