Title :

NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study

Author(s) :

Linnemann, Christoph [Auteur]
Universitätsklinikum Tübingen - University Hospital of Tübingen
Université de Bâle = University of Basel = Basel Universität [Unibas]
Wilke, Carlo [Auteur]
German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen [DZNE]
Eberhard Karls Universität Tübingen = University of Tübingen
Mengel, David [Auteur]
German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen [DZNE]
Eberhard Karls Universität Tübingen = University of Tübingen
Zetterberg, Henrik [Auteur]
Sahlgrenska Academy at University of Gothenburg [Göteborg]
UK Dementia Research Institute [UK DRI]
Heller, Carolin [Auteur]
UK Dementia Research Institute [UK DRI]
UCL Queen Square Institute of Neurology
Kuhle, Jens [Auteur]
University Hospital Basel [Basel]
Université de Bâle = University of Basel = Basel Universität [Unibas]
Bouzigues, Arabella [Auteur]
UCL Queen Square Institute of Neurology
Russell, Lucy L [Auteur]
UCL Queen Square Institute of Neurology
Foster, Phoebe H [Auteur]
UCL Queen Square Institute of Neurology
Ferry-Bolder, Eve [Auteur]
UCL Queen Square Institute of Neurology
Van Swieten, John Cornelis [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Jiskoot, Lize C [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Seelaar, Harro [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Moreno, Fermin [Auteur]
BioDonostia Health Research Institute = Instituto de Investigación Sanitaria Biodonostia
Borroni, Barbara [Auteur]
Università degli Studi di Brescia = University of Brescia [UniBs]
Sánchez-Valle, Raquel [Auteur]
Institut d'Investigacions Biomèdiques August Pi i Sunyer [IDIBAPS]
Galimberti, Daniela [Auteur]
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Centro Dino Ferrari [Milano]
Laforce Jr, Robert [Auteur]
Université Laval [Québec] [ULaval]
Graff, Caroline [Auteur]
Karolinska University Hospital [Solna, Sweden] [KUH]
Karolinska Institute
Masellis, Mario [Auteur]
Sunnybrook Research Institute [Toronto] [SRI]
Tartaglia, Maria Carmela [Auteur]
Tanz Center Research in Neurodegenerative Diseases [Toronto]
Rowe, James Benedict [Auteur]
University of Cambridge [UK] [CAM]
Finger, Elizabeth [Auteur]
University of Western Ontario [UWO]
Vandenberghe, Rik [Auteur]
Universitair Ziekenhuis Leuven = University Hospital of Leuven = Hopital universitaire de Louvain [UZ Leuven]
Catholic University of Leuven = Katholieke Universiteit Leuven [KU Leuven]
De Mendonca, Alexandre [Auteur]
Faculdade de Medicina [Lisboa]
Butler, Chris R. [Auteur]
University of Oxford
Imperial College London
Gerhard, Alexander [Auteur]
Wolfson Molecular Imaging Centre [WMIC]
Ducharme, Simon [Auteur]
McGill University Health Center [Montreal] [MUHC]
McConnell Brain Imaging Centre [MNI]
Le Ber, Isabelle [Auteur]
Institut du Cerveau = Paris Brain Institute [ICM]
Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] [IM2A]
Tiraboschi, Pietro [Auteur]
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Santana, Isabel [Auteur]
Universidade de Coimbra = University of Coimbra [Portugal] [UC]
Hospitais da Universidade de Coimbra [H.U.C.]
Pasquier, Florence [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Levin, Johannes [Auteur]
Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München [LMU]
German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen [DZNE]
Otto, Markus [Auteur]
Universität Ulm - Ulm University [Ulm, Allemagne]
Sorbi, Sandro [Auteur]
Fondazione Don Carlo Gnocchi
Università degli Studi di Firenze = University of Florence = Université de Florence [UniFI]
Rohrer, Jonathan D. [Auteur]
UCL Queen Square Institute of Neurology
Synofzik, Matthis [Auteur]
Universitätsklinikum Tübingen - University Hospital of Tübingen
Hertie Institute for Clinical Brain Research [Tubingen]

Journal title :

Journal of Neurology, Neurosurgery and Psychiatry

Abbreviated title :

J Neurol Neurosurg Psychiatry

Volume number :

95

Pages :

822-828

Publisher :

BMJ Publishing Group

Publication date :

2024-01-19

ISSN :

1468-330X

English keyword(s) :

COGNITION
FRONTOTEMPORAL DEMENTIA
NEUROPSYCHIATRY

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Background : Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing ...
Show more >Background : Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4) stability across recruiting sites. Methods : Comparative analysis of blood NfL levels in a large gFTD cohort (GENFI) for (1)–(4), with n=344 samples (n=148 presymptomatic, n=11 converter, n=46 symptomatic subjects, with mutations in C9orf72, GRN or MAPT; and n=139 within-family controls), each measured in three different international labs by Simoa HD-1 analyzer. Results : NfL revealed an excellent consistency (intraclass correlation coefficient (ICC) 0.964) and high reliability across the three labs (maximal bias (pg/mL) in Bland-Altman analysis: 1.12±1.20). High concordance of NfL across laboratories was moreover reflected by high areas under the curve for discriminating conversion stage against the (non-converting) presymptomatic stage across all three labs. Serum and plasma NfL were largely comparable (ICC 0.967). The robustness of NfL across 13 recruiting sites was demonstrated by a linear mixed effect model. Conclusions : Our results underline the suitability of blood NfL in gFTD multicentre trials, including cross-lab reliable stratification of the highly trial-relevant conversion stage, matrix comparability and cross-site robustness.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires

Submission date :

2024-05-30T21:06:43Z
2025-02-26T14:37:17Z