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Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic...

Genetic FTD Initiative (GENFI); Samra, Kiran; Peakman, Georgia; MacDougall, Amy M.; Bouzigues, Arabella; Greaves, Caroline V.; Convery, Rhian S.

INTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in...


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...


Motor symptoms in genetic frontotemporal dementia: developing a new module for ...

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

Objective To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). Methods Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used t...


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...


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...


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...


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 ...


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, Emma

Background: 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, Kathryn

Background: 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...


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...


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