22 documents found, page 1 of 3
Examining empathy deficits across familial forms of frontotemporal dementia wit...
Foster, Phoebe H.; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Bouzigues, Arabella; Greaves, Caroline V.; Bocchetta, Martina; Cash, David M.Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD. Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 1...
A data-driven disease progression model of fluid biomarkers in genetic frontote...
van der Ende, Emma L.; Bron, Esther E.; Poos, Jackie M.; Jiskoot, Lize C.; Panman, Jessica L.; Papma, Janne M.; Meeter, Lieke H.; Dopper, Elise G. P.Several CSF and blood biomarkers for genetic frontotemporal dementia have been proposed, including those reflecting neuroaxonal loss (neurofilament light chain and phosphorylated neurofilament heavy chain), synapse dysfunction [neuronal pentraxin 2 (NPTX2)], astrogliosis (glial fibrillary acidic protein) and complement activation (C1q, C3b). Determining the sequence in which biomarkers become abnormal over the ...
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia:...
van der Ende, Emma L.; Heller, Carolin; Sogorb-Esteve, Aitana; Swift, Imogen J.; McFall, David; Peakman, Georgia; Bouzigues, Arabella; Poos, Jackie M.Background: Neuroinflammation is emerging as an important pathological process in frontotemporal dementia (FTD), but biomarkers are lacking. We aimed to determine the value of complement proteins, which are key components of innate immunity, as biomarkers in cerebrospinal fluid (CSF) and plasma of presymptomatic and symptomatic genetic FTD mutation carriers. Methods: We measured the complement proteins C1q and ...
Structural brain splitting is a hallmark of Granulin-related frontotemporal dem...
Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Alberici, Antonella; Benussi, Alberto; Archetti, Silvana; Gasparotti, Roberto; Bocchetta, MartinaFrontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We ...
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...
Differential early subcortical involvement in genetic FTD within the GENFI cohort
Bocchetta, Martina; Todd, Emily G.; Peakman, Georgia; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; Eugenio Iglesias, JuanBackground: Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups. Methods: 480 mutation carriers from the Genetic FTD Initiative (GENFI) were included (...
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.; 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 73 microtubule-associated protein tau [MAPT]) and 290 controls. Group differences and correlation...
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...
The Revised Self-Monitoring Scale detects early impairment of social cognition ...
Franklin, Hannah D.; Russell, Lucy L.; Peakman, Georgia; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Poos, Jackie; Convery, Rhian S.Background: Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. Methods: We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative...
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...