15 documents found, page 1 of 2
Association of rare APOE missense variants V236E and R251G with risk of Alzheim...
Le Guen, Yann; Belloy, Michael E.; Grenier-Boley, Benjamin; de Rojas, Itziar; Castillo-Morales, Atahualpa; Jansen, Iris; Nicolas, AudeImportance: The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE ε2 and APOE ε4 could provide crit...
Longitudinal cognitive changes in genetic frontotemporal dementia within the GE...
Poos, Jackie M.; MacDougall, Amy; van den Berg, Esther; Jiskoot, Lize C.; Papma, Janne M.; van der Ende, Emma L.; Seelaar, Harro; Russell, Lucy L.Background and objectives: Disease-modifying therapeutic trials for genetic frontotemporal dementia (FTD) are underway, but sensitive cognitive outcome measures are lacking. The aim of this study was to identify such cognitive tests in early stage FTD by investigating cognitive decline in a large cohort of genetic FTD pathogenic variant carriers and by investigating whether gene-specific differences are moderat...
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 SBackground: 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...
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...
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...
Characterizing the clinical features and atrophy patterns of MAPT-Related Front...
Young, Alexandra L.; Bocchetta, Martina; Russell, Lucy L.; Convery, Rhian S.; Peakman, Georgia; Todd, Emily; Cash, David M.; Greaves, Caroline V.Background and objective: Mutations in the MAPT gene cause frontotemporal dementia (FTD). Most previous studies investigating the neuroanatomical signature of MAPT mutations have grouped all different mutations together and shown an association with focal atrophy of the temporal lobe. However, the variability in atrophy patterns between each particular MAPT mutation is less well characterised. We aimed to inves...
Social cognition impairment in genetic frontotemporal dementia within the GENFI...
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; van Swieten, JohnA key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognit...
Social cognition impairment in genetic frontotemporal dementia within the GENFI...
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; van Swieten, JohnA key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognit...