19 documents found, page 1 of 2
Data-driven staging of genetic frontotemporal dementia using multi-modal MRI
McCarthy, Jillian; Borroni, Barbara; Sánchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, DanielaFrontotemporal 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...
Data‐driven staging of genetic frontotemporal dementia using multi‐modal MRI
McCarthy, Jillian; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, DanielaFrontotemporal 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...
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patient...
Benussi, Alberto; Premi, Enrico; Gazzina, Stefano; Brattini, Chiara; Bonomi, Elisa; Alberici, Antonella; Jiskoot, Lize; van Swieten, John CIMPORTANCE Behavioral disturbances are core features of frontotemporal dementia (FTD); however, symptom progression across the course of disease is not well characterized in genetic FTD. OBJECTIVE To investigate behavioral symptom frequency and severity and their evolution and progression in different forms of genetic FTD. DESIGN, SETTING, AND PARTICIPANTS This longitudinal cohort study, the international Genet...
Progression of behavioral disturbances and neuropsychiatric symptoms in patient...
Benussi, Alberto; Premi, Enrico; Gazzina, Stefano; Brattini, Chiara; Bonomi, Elisa; Alberici, Antonella; Jiskoot, Lize; van Swieten, John CImportance: Behavioral disturbances are core features of frontotemporal dementia (FTD); however, symptom progression across the course of disease is not well characterized in genetic FTD. Objective: To investigate behavioral symptom frequency and severity and their evolution and progression in different forms of genetic FTD. Design, setting, and participants: This longitudinal cohort study, the international Ge...
MRI data-driven algorithm for the diagnosis of behavioural variant frontotempor...
Manera, Ana L; Dadar, Mahsa; Van Swieten, John Cornelis; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce Jr, Robert; Graff, CarolineIntroduction: 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 bet...
Common variants in Alzheimer's disease and risk stratification by polygenic ris...
de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E.; Pedersen, Nancy L.; Stringa, NajadaGenetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Her...
Stratifying the presymptomatic phase of genetic frontotemporal dementia by Seru...
Wilke, Carlo; Reich, Selina; Swieten, John C.; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, CarolineObjective: Although the presymptomatic stages of frontotemporal dementia (FTD) provide a unique chance to delay or even prevent neurodegeneration by early intervention, they remain poorly defined. Leveraging a large multicenter cohort of genetic FTD mutation carriers, we provide a biomarker-based stratification and biomarker cascade of the likely most treatment-relevant stage within the presymptomatic phase: th...
Age at symptom onset and death and disease duration in genetic frontotemporal d...
Moore, Katrina M.; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T.; Irwin, David J.; Massimo, Lauren; Van Deerlin, Vivianna M.Background: Frontotemporal 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,...
Brain functional network integrity sustains cognitive function despite atrophy ...
Tsvetanov, Kamen A.; Gazzina, Stefano; Jones, P. Simon; Swieten, John; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, Fermin; Laforce, RobertIntroduction: The presymptomatic phase of neurodegenerative disease can last many years, with sustained cognitive function despite progressive atrophy. We investigate this phenomenon in familial frontotemporal dementia (FTD). Methods: We studied 121 presymptomatic FTD mutation carriers and 134 family members without mutations, using multivariate data-driven approach to link cognitive performance with both struc...
Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive dec...
Malpetti, Maura; Jones, P. Simon; Tsvetanov, Kamen A.; Rittman, Timothy; Swieten, John C.; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, FerminIntroduction: 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 annua...