7 documents found, page 1 of 1
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...
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...
Functional network resilience to pathology in presymptomatic genetic frontotemp...
Rittman, Timothy; Borchert, Robin; Jones, Simon; van Swieten, John; Borroni, Barbara; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria CarmelaThe presymptomatic phase of neurodegenerative diseases are characterized by structural brain changes without significant clinical features. We set out to investigate the contribution of functional network resilience to preserved cognition in presymptomatic genetic frontotemporal dementia. We studied 172 people from families carrying genetic abnormalities in C9orf72, MAPT, or PGRN. Networks were extracted from f...
The inner fluctuations of the brain in presymptomatic frontotemporal dementia: ...
Premi, Enrico; Calhoun, Vince D.; Diano, Matteo; Gazzina, Stefano; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Paternicò, DonataFrontotemporal Dementia (FTD) is preceded by a long period of subtle brain changes, occurring in the absence of overt cognitive symptoms, that need to be still fully characterized. Dynamic network analysis based on resting-state magnetic resonance imaging (rs-fMRI) is a potentially powerful tool for the study of preclinical FTD. In the present study, we employed a "chronnectome" approach (recurring, time-varyin...
Spatiotemporal analysis for detection of pre-symptomatic shape changes in neuro...
Cury, Claire; Durrleman, Stanley; Cash, David M.; Lorenzi, Marco; Nicholas, Jennifer M.; Bocchetta, Martina; van Swieten, John C.; Borroni, BarbaraBrain atrophy as measured from structural MR images, is one of the primary imaging biomarkers used to track neurodegenerative disease progression. In diseases such as frontotemporal dementia or Alzheimer's disease, atrophy can be observed in key brain structures years before any clinical symptoms are present. Atrophy is most commonly captured as volume change of key structures and the shape changes of these str...
White matter hyperintensities are seen only in GRN mutation carriers in the GEN...
Sudre, Carole H.; Bocchetta, Martina; Cash, David; Thomas, David L.; Woollacott, Ione; Dick, Katrina M.; van Swieten, John; Borroni, BarbaraGenetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported the presence of cerebral white matter hyperintensities (WMH) in genetic FTD but this has not been systematically studied across the different mutations. In this study WMH were assessed...