Fermin Moreno
Carlos III Health Institute
PathologyFrontotemporal lobar degenerationFrontotemporal dementiaMutationBiology
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Publications 45
#1Gabriella Le Blanc (McGill University)
#2Vincent Jetté Pomerleau (MUHC: McGill University Health Centre)
Last. Matthis SynofzikH-Index: 37
view all 28 authors...
OBJECTIVE: C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS: Data were obtained from the Genetic Frontotemporal Dementia Initiative. T1-weighted MRI scans were processed with CIVET 2.1 to extract vertex-wide CTh and CSA. Symptomatic and presymptomat...
#1Emma L. Van Der Ende (Erasmus University Medical Center)
#2Meifang Xiao (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 13
Last. Carolin Heller (UCL: University College London)H-Index: 3
view all 43 authors...
Introduction Synapse dysfunction is emerging as an early pathological event in frontotemporal dementia (FTD), however biomarkers are lacking. We aimed to investigate the value of cerebrospinal fluid (CSF) neuronal pentraxins (NPTXs), a family of proteins involved in homeostatic synapse plasticity, as novel biomarkers in genetic FTD. Methods We included 106 presymptomatic and 54 symptomatic carriers of a pathogenic mutation in GRN, C9orf72 or MAPT, and 70 healthy non-carriers participating in the...
#1Katrina M. Moore (UCL Institute of Neurology)H-Index: 1
#2Rhian S. Convery (UCL Institute of Neurology)H-Index: 2
Last. John C. van Swieten (EUR: Erasmus University Rotterdam)H-Index: 53
view all 38 authors...
AbstractImpaired semantic knowledge is a characteristic feature of some forms of frontotemporal dementia (FTD), particularly the sporadic disorder semantic dementia. Less is known about semantic co...
#1Katrina M. Moore (UCL: University College London)H-Index: 1
#2Jennifer M. Nicholas (Lond: University of London)H-Index: 20
Last. Daniel H. GeschwindH-Index: 129
view all 171 authors...
Summary Background Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72. Methods In this international, retrospective cohort study, we col...
4 CitationsSource
#1Carolin Heller (UCL: University College London)
#1Carolin Heller (UCL: University College London)H-Index: 3
Last. Jonathan D. RohrerH-Index: 50
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Background There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, a known pathological process of FTD, but has yet to be explored as potential biomarker. Methods Plasma GFAP and neurofilament light chain (NfL) concentration were measured in 469 individuals enrolled in the Genetic FTD Initiative: 114 C9orf72 expansion carriers (74 presymptomatic, 40 symptomatic), 119 GRN mutation carriers (88 presymptomatic, ...
3 CitationsSource
#1Ana Laura Manera (Montreal Neurological Institute and Hospital)H-Index: 1
#2Mahsa Dadar (Montreal Neurological Institute and Hospital)H-Index: 10
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INTRODUCTION: Brain structural imaging is paramount for the diagnosis of behavioral 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 databases (training and validation cohorts) were included to perform voxel-wise deformation-based morphometry analysis to identify regions with significant differences between bvFTD and controls. A random forest classifier was used to individually...
#1Andre Altmann (UCL: University College London)H-Index: 21
#2David M. Cash (UCL: University College London)H-Index: 26
Last. Jonathan D. Rohrer (UCL: University College London)H-Index: 50
view all 35 authors...
Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder characterized by neuronal loss in the frontal and temporal lobes. Despite progress in understanding which genes are associated with the aetiology of FTD (C9orf72, GRN and MAPT), the biological basis of how mutations in these genes lead to cell loss in specific cortical regions remains unclear. In this work we combined gene expression data for 16,912 genes from the Allen Institute for Brain Science atlas with brain maps o...
#1Emma L. van der Ende (EUR: Erasmus University Rotterdam)H-Index: 4
#2Lieke H.H. Meeter (EUR: Erasmus University Rotterdam)H-Index: 8
Last. John C. van Swieten (EUR: Erasmus University Rotterdam)H-Index: 53
view all 43 authors...
Summary Background Neurofilament light chain (NfL) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in GRN, C9orf72, and MAPT. A better understanding of NfL dynamics is essential for upcoming therapeutic trials. We aimed to study longitudinal NfL trajectories in people with presymptomatic and symptomatic genetic frontotemporal dementia. Methods We recruited participants from 14 centres collaborating in the Geneti...
7 CitationsSource
#1Kamen A. Tsvetanov (University of Cambridge)H-Index: 10
#2Stefano Gazzina (University of Cambridge)H-Index: 10
Last. James B. Rowe (University of Cambridge)H-Index: 57
view all 29 authors...
INTRODUCTION: 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 structural and functional magnetic resonance imaging. Atrophy and brain network connectivit...
#1Itziar de RojasH-Index: 1
#2Sonia MorenoH-Index: 21
Last. Agustín RuizH-Index: 37
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BACKGROUND: Disentangling the genetic constellation underlying Alzheimer9s disease (AD) is important. Doing so allows us to identify biological pathways underlying AD, point towards novel drug targets and use the variants for individualised risk predictions in disease modifying or prevention trials. In the present work we report on the largest genome-wide association study (GWAS) for AD risk to date and show the combined utility of proven AD loci for precision medicine using polygenic risk score...
2 CitationsSource