Journal Articles Dementia and Geriatric Cognitive Disorders Year : 2018

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia

Abstract

Background/Aims: The aim of the study was to assess the theory of haploinsufficiency in C9ORF72 expansion carriers, the most frequent causative gene of frontotemporal dementia. Methods: Plasmatic concentrations of C9orf72 protein were measured in 33 patients suspected of familial frontotemporal dementia using an enzyme-linked immunosorbent assay. Results: No difference was observed between C9ORF72 expansion carriers (21.2% of patients) and noncarriers (78.8% of patients). C9orf72 protein determination is not a suitable biomarker for screening C9ORF72 expansion carriers. Conclusion: Our results provide new evidence against the hypothesis of haploinsufficiency leading to frontotemporal dementia in C9ORF72 expansion carriers.
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hal-04795977 , version 1 (24-01-2025)

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Anthony Fourier, Maité Formaglio, Mathilde Sauvée, Armand Perret-Liaudet, Philippe Latour, et al.. C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia. Dementia and Geriatric Cognitive Disorders, 2018, 46 (3-4), pp.180-185. ⟨10.1159/000492963⟩. ⟨hal-04795977⟩
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