24 documents found, page 1 of 3
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, JanINTRODUCTION: 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...
Language impairment in the genetic forms of behavioural variant frontotemporal ...
On Behalf of the Genetic FTD Initiative (GENFI); Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particularly in the genetic forms. Methods: Participants with genetic bv...
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, HarroBackground: 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, RobertWhile 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 ...
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog
Poos, Jackie M; Moore, Katrina M; Nicholas, Jennifer; Russell, Lucy L; Peakman, Georgia; Convery, Rhian S; Jiskoot, Lize C; van der Ende, EmmaBackground: Clinical endpoints for upcoming therapeutic trials in frontotemporal dementia (FTD) are increasingly urgent. Cognitive composite scores are often used as endpoints but are lacking in genetic FTD. We aimed to create cognitive composite scores for genetic frontotemporal dementia (FTD) as well as recommendations for recruitment and duration in clinical trial design. Methods: A standardized neuropsychol...
CSF glial markers are elevated in a subset of patients with genetic frontotempo...
the Genetic FTD Initiative, GENFI; Woollacott, Ione O.C.; Swift, Imogen J.; Sogorb-Esteve, Aitana; Heller, Carolin; Knowles, KathrynBackground: Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying different glia-derived biomarkers in cerebrospinal fluid. However, only a few studies so far have taken place in FTD, and even fewer focusing on the genetic forms of FTD. Methods: We i...
Language impairment in the genetic forms of behavioural variant frontotemporal ...
Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; van Swieten, John C.Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particularly in the genetic forms. Methods: Participants with genetic bv...
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mu...
Bouzigues, Arabella; Russell, Lucy L.; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V.; Convery, Rhian S.; Todd, Emily; Rowe, James B.Introduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail. Methods: We inves...
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 ...