Begoña Indakoetxea
Carlos III Health Institute
Publications 18
#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
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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...
#1Timothy Rittman (University of Cambridge)H-Index: 19
#2Robin J Borchert (University of Cambridge)H-Index: 4
Last.Miren ZulaicaH-Index: 2
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The 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 functional MRI data and assessed using graph theoretical analysis. We found that despit...
3 CitationsSource
#1Enrico Premi (University of Brescia)H-Index: 18
#2Vince D. Calhoun (UNM: University of New Mexico)H-Index: 93
Last.Miren ZulaicaH-Index: 2
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Abstract Frontotemporal 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-varying patterns of connectivity) to evaluate measures of dynamic connectivity in 4...
2 CitationsSource
Many factors may converge in healthy ageing in the oldest old, but their association and predictive power on healthy o functionally impaired ageing has yet to be demonstrated. By detecting healthy ageing and in turn, poor ageing, we could take action to prevent chronic diseases associated with age. We conducted a pilot study comparing results of a set of markers (peripheral blood mononuclear cell telomere length or PBMC, circulating Aβ peptides, anti-Aβ antibodies, and ApoE status) previously as...
2 CitationsSource
#1Fermin MorenoH-Index: 13
Last.Suzee E. LeeH-Index: 18
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1 CitationsSource
#1Pau PastorH-Index: 38
#2Fermin MorenoH-Index: 13
Last.Pascual Sánchez-JuanH-Index: 29
view all 38 authors...
Spanish Ministry of Science and Innovation SAF 2006-10126 (2006–2009) and SAF2010-22329-C02-01 (2011–2013) to P.P and by the UTE project FIMA to P.P. Grants from the Ministry of Science (SAF2010-15558) and CIBERNED. Agust´in Ruiz is supported by grant PI13/02434 (Accion Estrategica en Salud. Instituto de Salud Carlos III. Ministerio de Economia y Competitividad, Spain). Grant: Consolider (CSD2010-00045).
15 CitationsSource
#1Mathias Thelen (University of Bonn)H-Index: 4
#2Cristina Razquin (University of Navarra)H-Index: 24
Last.Alfredo Ramirez (University of Bonn)H-Index: 35
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Abstract Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous disorder. Rare TREM2 variants have been recently identified in families affected by FTD-like phenotype. However, genetic studies of the role of rare TREM2 variants in FTD have generated conflicting results possibly because of difficulties on diagnostic accuracy. The aim of the present study was to investigate associations between rare TREM2 variants and specific FTD subtypes (FTD-S). The entire coding sequence o...
27 CitationsSource
#1Fermin Moreno (ISCIII: Carlos III Health Institute)H-Index: 13
#2Roser Sala-Llonch (University of Barcelona)H-Index: 24
Last.Begoña Indakoetxea (ISCIII: Carlos III Health Institute)H-Index: 9
view all 12 authors...
Abstract Studies in asymptomatic granulin gene ( GRN ) mutation carriers are essential to improve our understanding of the pattern and timing of early morphologic brain changes in frontotemporal lobar degeneration. The main objectives of this study were to assess the effect of age in cortical thickness changes (CTh) in preclinical GRN mutation carriers and to study the relationship of CTh with cognitive performance in GRN mutation carriers. We calculated CTh maps in 13 asymptomatic carriers of t...
9 CitationsSource
Mutations in the progranulin (PGRN) gene have been identified as a cause of frontotemporal dementia (FTD). However, little is known about the neuropsychological abilities of asymptomatic carriers of these mutations. The aim of the study was to assess cognitive functioning in asymptomatic c.709-1G>A PGRN mutation carriers. We hypothesized that poorer neuropsychological performance could be present before the development of clinically significant FTD symptoms. Thirty-two asymptomatic first-degree ...
11 CitationsSource