%0 Journal Article
%A Liu, Ella
%A Jones, Sherri Lee
%A Light, Victoria
%A Teunissen, Charlotte
%A Bouzigues, Arabella
%A Russell, Lucy L
%A Foster, Phoebe H
%A Ferry-Bolder, Eve
%A van Swieten, John C
%A Jiskoot, Lize C
%A Seelaar, Harro
%A Sanchez-Valle, Raquel
%A Laforce, Robert
%A Graff, Caroline
%A Galimberti, Daniela
%A Vandenberghe, Rik
%A de Mendonça, Alexandre
%A Tiraboschi, Pietro
%A Santana, Isabel
%A Gerhard, Alexander
%A Levin, Johannes
%A Sorbi, Sandro
%A Otto, Markus
%A Butler, Chris R
%A Ber, Isabelle Le
%A Finger, Elizabeth
%A Tartaglia, Maria Carmela
%A Masellis, Mario
%A Rowe, James B
%A Synofzik, Matthis
%A Moreno, Fermin
%A Borroni, Barbara
%A Zetterberg, Henrik
%A Rohrer, Jonathan D
%A Ducharme, Simon
%T Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders.
%J Journal of Alzheimer's disease
%V 106
%N 4
%@ 1387-2877
%C Amsterdam
%I IOS Press
%M DZNE-2025-01048
%P 1337 - 1354
%D 2025
%X BackgroundGenetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to significant symptom overlap, particular as FTD often presents with prolonged psychiatric prodromes.ObjectiveThis study aims to evaluate whether blood-based neurofilament light chain (NfL) can differentiate genetic FTD from PPD, and to determine a global clinical cutoff to differentiate genetic FTD carriers from PPD with high specificity and sensitivity.MethodsData (ages 40-81) were obtained from FTD mutation carriers (GENFI; n = 474; n = 120 C9orf72, n = 114 GRN, n = 50 MAPT, n = 190 controls), and PPD (Biobanque Signature; n = 848). Blood-based NfL was measured with SIMOA HD-X (BbS) and SIMOA HD-1 (GENFI).ResultsBlood-based NfL was higher in all symptomatic mutations compared to PPD. Mildly symptomatic (0 < FTLD CDR-SOB-NM < 4) C9orf72 and GRN carriers also had higher NfL. ROC curve revealed an optimal blood-based NfL cutoff of 22.1 pg/mL (J = 0.647) to distinguish symptomatic genetic FTD from PPD (78.5
%K Humans
%K Frontotemporal Dementia: genetics
%K Frontotemporal Dementia: blood
%K Frontotemporal Dementia: diagnosis
%K Male
%K Female
%K Middle Aged
%K Neurofilament Proteins: blood
%K Aged
%K Adult
%K C9orf72 Protein: genetics
%K Diagnosis, Differential
%K Aged, 80 and over
%K Biomarkers: blood
%K Mental Disorders: blood
%K Mental Disorders: diagnosis
%K Mental Disorders: genetics
%K Progranulins: genetics
%K tau Proteins: genetics
%K Mutation: genetics
%K Sensitivity and Specificity
%K Alzheimer's disease (Other)
%K biomarkers (Other)
%K diagnosis (Other)
%K frontotemporal dementia (Other)
%K neurofilament proteins (Other)
%K Neurofilament Proteins (NLM Chemicals)
%K neurofilament protein L (NLM Chemicals)
%K C9orf72 Protein (NLM Chemicals)
%K C9orf72 protein, human (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%K Progranulins (NLM Chemicals)
%K tau Proteins (NLM Chemicals)
%K GRN protein, human (NLM Chemicals)
%K MAPT protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40605462
%2 pmc:PMC12322341
%R 10.1177/13872877251352103
%U https://pub.dzne.de/record/280966