8 documents found, page 1 of 1
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog
Poos, Jackie M; Moore, Katrina M; Nicholas, Jennifer; Russell, Lucy L; Peakman, Georgia; Convery, Rhian S; Jiskoot, Lize C; van der Ende, EmmaBackground: 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 neuropsychol...
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...
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...
Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study
Poos, Jackie M; Russell, Lucy L; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V; Jiskoot, Lize C; van der Ende, Emma L; Seelaar, HarroIntroduction:We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73microtubule-associated protein tau [MAPT]) and 290 controls.Group differences and correlations w...
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...
White matter hyperintensities in progranulin-associated frontotemporal dementia...
Sudre, Carole H.; Bocchetta, Martina; Heller, Carolin; Convery, Rhian; Neason, Mollie; Moore, Katrina M.; Cash, David M.; Thomas, David L.Frontotemporal dementia (FTD) is a heterogeneous group of neurodegenerative disorders with both sporadic and genetic forms. Mutations in the progranulin gene (GRN) are a common cause of genetic FTD, causing either a behavioural presentation or, less commonly, language impairment. Presence on T2-weighted images of white matter hyperintensities (WMH) has been previously shown to be more commonly associated with G...