Dataset Information

Differential diagnostic performance of a panel of plasma biomarkers for different types of dementia.

ABSTRACT:

Introduction

We explored what combination of blood-based biomarkers (amyloid beta [Aβ]_1-42/1-40, phosphorylated tau [p-tau]181, neurofilament light [NfL], glial fibrillary acidic protein [GFAP]) differentiates Alzheimer's disease (AD) dementia, frontotemporal dementia (FTD), and dementia with Lewy bodies (DLB).

Methods

We measured the biomarkers with Simoa in two separate cohorts (n = 160 and n = 152). In one cohort, Aβ_1-42/1-40 was also measured with mass spectrometry (MS). We assessed the differential diagnostic value of the markers, by logistic regression with Wald's backward selection.

Results

MS and Simoa Aβ_1-42/1-40 similarly differentiated AD from controls. The Simoa panel that optimally differentiated AD from FTD consisted of NfL and p-tau181 (area under the curve [AUC] = 0.94; cohort 1) or NfL, GFAP, and p-tau181 (AUC = 0.90; cohort 2). For AD from DLB, the panel consisted of NfL, p-tau181, and GFAP (AUC = 0.88; cohort 1), and only p-tau181 (AUC = 0.81; cohort 2).

Discussion

A combination of plasma p-tau181, NfL, and GFAP, but not Aβ_1-42/1-40, might be useful to discriminate AD, FTD, and DLB.

SUBMITTER: Thijssen EH

PROVIDER: S-EPMC9107685 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Differential diagnostic performance of a panel of plasma biomarkers for different types of dementia.

Thijssen Elisabeth H EH Verberk Inge M W IMW Kindermans Jana J Abramian Adlin A Vanbrabant Jeroen J Ball Andrew J AJ Pijnenburg Yolande Y Lemstra Afina W AW van der Flier Wiesje M WM Stoops Erik E Hirtz Christophe C Teunissen Charlotte E CE

Alzheimer's & dementia (Amsterdam, Netherlands) 20220515 1

<h4>Introduction</h4>We explored what combination of blood-based biomarkers (amyloid beta [Aβ]<sub>1-42/1-40</sub>, phosphorylated tau [p-tau]181, neurofilament light [NfL], glial fibrillary acidic protein [GFAP]) differentiates Alzheimer's disease (AD) dementia, frontotemporal dementia (FTD), and dementia with Lewy bodies (DLB).<h4>Methods</h4>We measured the biomarkers with Simoa in two separate cohorts (n = 160 and n = 152). In one cohort, Aβ<sub>1-42/1-40</sub> was also measured with mass sp ...[more]

PMID: 35603139

Similar Datasets

Project description:IntroductionFrontotemporal dementia (FTD) is characterized by phenotypic and genetic heterogeneities. However, reports on the large Chinese FTD cohort are lacking.MethodsTwo hundred forty-eight patients with FTD were enrolled. All patients and 2010 healthy controls underwent next generation sequencing. Plasma samples were analyzed for glial fibrillary acidic protein (GFAP), α-synuclein (α-syn), neurofilament light chain (NfL), and phosphorylated tau protein 181 (p-tau181).ResultsGene sequencing identified 48 pathogenic or likely pathogenic mutations in a total of 19.4% of patients with FTD (48/248). The most common mutation was the C9orf72 dynamic mutation (5.2%, 13/248). Significantly increased levels of GFAP, α-syn, NfL, and p-tau181 were detected in patients compared to controls (all p < 0.05). GFAP and α-syn presented better performance for diagnosing FTD.DiscussionWe investigated the characteristics of phenotypic and genetic spectrum in a large Chinese FTD cohort, and highlighted the utility of plasma biomarkers for diagnosing FTD.HighlightsThis study used a frontotemporal dementia (FTD) cohort with a large sample size in Asia to update and reveal the clinical and genetic spectrum, and explore the relationship between multiple plasma biomarkers and FTD phenotypes as well as genotypes. We found for the first time that the C9orf72 dynamic mutation frequency ranks first among all mutations, which broke the previous impression that it was rare in Asian patients. Notably, it was the first time the C9orf72 G4C2 repeat expansion had been identified via whole-genome sequencing data, and this was verified using triplet repeat primed polymerase chain reaction (TP-PCR). We analyzed the diagnostic accuracy of four plasma biomarkers (glial fibrillary acidic protein [GFAP], α-synuclein [α-syn], neurofilament light chain [NfL], and phosphorylated tau protein 181 [p-tau181]) at the same time, especially for α-syn being included in the FTD cohort for the first time, and found GFAP and α-syn had the highest diagnostic accuracy for FTD and its varied subtypes.

Dataset Information

Differential diagnostic performance of a panel of plasma biomarkers for different types of dementia.

Introduction

Methods

Results

Discussion

Publications

Differential diagnostic performance of a panel of plasma biomarkers for different types of dementia.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets