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Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dement...

The Genetic Frontotemporal Dementia Initiative (GENFI); Pasternak, Maurice; Mirza, Saira S.; Luciw, Nicholas; Mutsaerts, Henri J. M. M.; Petr, Jan

INTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 4...


The Benson Complex Figure Test detects deficits in visuoconstruction and visual...

Jiskoot, Lize C.; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Greaves, Caroline V.; Bocchetta, Martina; Poos, Jackie M.; Seelaar, Harro

Sensitive cognitive markers are still needed for frontotemporal dementia (FTD). The Benson Complex Figure Test (BCFT) is an interesting candidate test, as it assesses visuospatial, visual memory, and executive abilities, allowing the detection of multiple mechanisms of cognitive impairment. To investigate differences in BCFT Copy, Recall and Recognition in presymptomatic and symptomatic FTD mutation carriers, a...


Network structure and transcriptomic vulnerability shape atrophy in frontotempo...

Shafiei, Golia; Bazinet, Vincent; Dadar, Mahsa; Manera, Ana L.; Collins, D. Louis; Dagher, Alain; Borroni, Barbara; Sánchez-Valle, Raquel

Connections among brain regions allow pathological perturbations to spread from a single source region to multiple regions. Patterns of neurodegeneration in multiple diseases, including behavioural variant of frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate to structural network organization remains unknown. Here we investigate whether n...


Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new ...

Samra, Kiran; Macdougall, Amy; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.

Background Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neurops...


Genetic forms of primary progressive aphasia within the GENetic Frontotemporal ...

Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; Hardy, Chris

Primary progressive aphasia is most commonly a sporadic disorder, but in some cases, it can be genetic. This study aimed to understand the clinical, cognitive and imaging phenotype of the genetic forms of primary progressive aphasia in comparison to the canonical nonfluent, semantic and logopenic subtypes seen in sporadic disease. Participants with genetic primary progressive aphasia were recruited from the int...


Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new ...

Samra, Kiran; Macdougall, Amy; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.

Background: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuro...


Early neurotransmitters changes in prodromal frontotemporal dementia: a GENFI s...

Premi, Enrico; Pengo, Marta; Mattioli, Irene; Cantoni, Valentina; Dukart, Juergen; Gasparotti, Roberto; Buratti, Emanuele; Padovani, Alessandro

Background: Neurotransmitters deficits in Frontotemporal Dementia (FTD) are still poorly understood. Better knowledge of neurotransmitters impairment, especially in prodromal disease stages, might tailor symptomatic treatment approaches. Methods: In the present study, we applied JuSpace toolbox, which allowed for cross-modal correlation of Magnetic Resonance Imaging (MRI)-based measures with nuclear imaging der...


Altered plasma protein profiles in genetic FTD – a GENFI study

Ullgren, Abbe; Öijerstedt, Linn; Olofsson, Jennie; Bergström, Sofia; Remnestål, Julia; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro

Background: Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Methods: Blood samples from 693 pa...


Neurodevelopmental effects of genetic frontotemporal dementia in young adult mu...

Finger, Elizabeth; Malik, Rubina; Bocchetta, Martina; Coleman, Kristy; Graff, Caroline; Borroni, Barbara; Masellis, Mario; Laforce, Robert

While frontotemporal dementia has been considered a neurodegenerative disease that starts in mid-life or later, it is now clearly established that cortical and subcortical volume loss is observed more than a decade prior to symptom onset and progresses with ageing. To test the hypothesis that genetic mutations causing frontotemporal dementia have neurodevelopmental consequences, we examined the youngest adults ...


The Benson Complex Figure Test detects deficits in visuoconstruction and visual...

Jiskoot, Lize C.; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Greaves, Caroline V.; Bocchetta, Martina; Poos, Jackie M.; Seelaar, Harro

Objective: Sensitive cognitive markers are still needed for frontotemporal dementia (FTD). The Benson Complex Figure Test (BCFT) is an interesting candidate test, as it assesses visuospatial, visual memory, and executive abilities, allowing the detection of multiple mechanisms of cognitive impairment. To investigate differences in BCFT Copy, Recall and Recognition in presymptomatic and symptomatic FTD mutation ...


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