biostudies-literatureSaracino DProgramme Hospitalier de Recherche CliniqueAgence Nationale de la RechercheFondation Vaincre Alzheimer1278-1288https://www.ebi.ac.uk/biostudies/studies/S-EPMC8606463biostudies-literatureUnknown92(12)<h4>Objective</h4>Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in <i>C9orf72</i> and <i>GRN</i> cohorts from presymptomatic to clinical stages.<h4>Methods</h4>We analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of <i>C9orf72</i> and <i>GRN</i> patients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical-genetic variables, and longitudinal NfL changes, were investigated using genJournal of neurology, neurosurgery, and psychiatryPlasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications.PMC8606463Predict-PGRN“Investissements d’avenir” ANR-11-INBS-0011FTLD-exomeFR-17035ANR-PRTS PREV-DEMALSLacomblez LHannequin DCeccaldi MLautrette GBoutoleau-Bretonniere CBissery AKuchinski GGolfier VLe Ber IFunkiewiez AMasmanian MChupin MFrench Research Network on FTD/FTD-ALSBertin HCouratier PRinaldi DAzuar CCausse-Lemercier VPayoux PAuffray-Calvier EBer ILAuriacombe SJornea LWallon DChastan MChen YDubois BBombois SDorgham KDidic MMigliaccio RBrice ABelliard SFormaglio MThauvin-Robinet CDelmaire CHabert MOClot FBerry IBertrand ARametti-Lacroux AGerardin EMonteil JBardinet ELevy RForlani SMartin-Hardy PPariente JColliot OSellal FSaracino DToullec BLPallardy ARollin-Sillaire AHouot MSauvee MPasquier FKas ABoncoeur MPVercelletto MBlanc FBenchetrit ECamuzat AThomas-Anterion CPetyt GGirard NSayah SPREV-DEMALS and Predict-PGRN study groupsMichel BFMackowiak MADuyckaerts CMartinaud OOya AHEtcharry-Bouyx FDelbeuck XDeramecourt VGuedj EfalsePlasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications.<h4>Objective</h4>Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in <i>C9orf72</i> and <i>GRN</i> cohorts from presymptomatic to clinical stages.<h4>Methods</h4>We analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of <i>C9orf72</i> and <i>GRN</i> patients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical-genetic variables, and longitudinal NfL changes, were investigated using gen2021-01-01T00:00:00Z2021 Dec2026-06-16T03:12:00.988Z2026-06-16T03:07:05.146ZS-EPMC86064633434900410.1136/jnnp-2021-326914