14 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...
Disease-related cortical thinning in presymptomatic granulin mutation carriers
Borrego-Écija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermín; Masellis, Mario; Tartaglia, Carmela; Graff, CarolineMutations 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...
Disease-related cortical thinning in presymptomatic granulin mutation carriers
Borrego-Écija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermín; Masellis, Mario; Tartaglia, Carmela; Graff, CarolineMutations 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...
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...
Disease-related cortical thinning in presymptomatic granulin mutation carriers
Borrego-Écija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermín; Masellis, Mario; Tartaglia, Carmela; Graff, CarolineMutations 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...
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...
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...
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...