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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...


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...


Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Poos, Jackie M; Russell, Lucy L; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V; Jiskoot, Lize C; van der Ende, Emma L; Seelaar, Harro

Introduction:We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73microtubule-associated protein tau [MAPT]) and 290 controls.Group differences and correlations w...


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