Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia.
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ABSTRACT: Introduction
Trials to test disease-modifying treatments for frontotemporal dementia are eagerly awaited and sensitive instruments to assess potential treatment effects are increasingly urgent, yet lacking thus far. We aimed to identify gene-specific instruments assessing clinical onset and disease progression by comparing cognitive functioning between bvFTD patients across genetic mutations.Methods
We examined differences in 7 cognitive domains between bvFTD patients with GRN (n = 20), MAPT (n = 29) or C9orf72 (n = 31) mutations, and non-carriers (n = 24), and described longitudinal (M = 22.6 months, SD = 16.6) data in a subsample (n = 27).Results
Patients showed overall cognitive impairment, except memory recall, working memory and visuoconstruction. GRN patients performed lower on executive function (mean difference - 2.1; 95%CI - 4.1 to - 0.5) compared to MAPT and lower on attention compared to MAPT (mean difference - 2.5; 95%CI - 4.7 to - 0.3) and C9orf72 (mean difference - 2.4; 95%CI - 4.5 to - 0.3). Only MAPT patients were impaired on delayed recall (mean difference - 1.4; 95%CI - 2.1 to - 0.7). GRN patients declined rapidly on attention and memory, MAPT declined in confrontation naming, whereas C9orf72 patients were globally impaired but remained relatively stable over time on all cognitive domains.Discussion
This study shows gene-specific cognitive profiles in bvFTD, which underlines the value of neuropsychological tests as outcome measures in upcoming trials for genetic bvFTD.
SUBMITTER: Poos JM
PROVIDER: S-EPMC7293665 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Publications
Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia.
Poos J M JM Jiskoot L C LC Leijdesdorff S M J SMJ Seelaar H H Panman J L JL van der Ende E L EL Mol M O MO Meeter L H H LHH Pijnenburg Y A L YAL Donker Kaat L L de Jong F J FJ van Swieten J C JC Papma J M JM van den Berg E E
Journal of neurology 20200212 6
<h4>Introduction</h4>Trials to test disease-modifying treatments for frontotemporal dementia are eagerly awaited and sensitive instruments to assess potential treatment effects are increasingly urgent, yet lacking thus far. We aimed to identify gene-specific instruments assessing clinical onset and disease progression by comparing cognitive functioning between bvFTD patients across genetic mutations.<h4>Methods</h4>We examined differences in 7 cognitive domains between bvFTD patients with GRN (n ...[more]
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