TY  - JOUR
AU  - Liu, Ella
AU  - Jones, Sherri Lee
AU  - Light, Victoria
AU  - Teunissen, Charlotte
AU  - Bouzigues, Arabella
AU  - Russell, Lucy L
AU  - Foster, Phoebe H
AU  - Ferry-Bolder, Eve
AU  - van Swieten, John C
AU  - Jiskoot, Lize C
AU  - Seelaar, Harro
AU  - Sanchez-Valle, Raquel
AU  - Laforce, Robert
AU  - Graff, Caroline
AU  - Galimberti, Daniela
AU  - Vandenberghe, Rik
AU  - de Mendonça, Alexandre
AU  - Tiraboschi, Pietro
AU  - Santana, Isabel
AU  - Gerhard, Alexander
AU  - Levin, Johannes
AU  - Sorbi, Sandro
AU  - Otto, Markus
AU  - Butler, Chris R
AU  - Ber, Isabelle Le
AU  - Finger, Elizabeth
AU  - Tartaglia, Maria Carmela
AU  - Masellis, Mario
AU  - Rowe, James B
AU  - Synofzik, Matthis
AU  - Moreno, Fermin
AU  - Borroni, Barbara
AU  - Zetterberg, Henrik
AU  - Rohrer, Jonathan D
AU  - Ducharme, Simon
TI  - Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders.
JO  - Journal of Alzheimer's disease
VL  - 106
IS  - 4
SN  - 1387-2877
CY  - Amsterdam
PB  - IOS Press
M1  - DZNE-2025-01048
SP  - 1337 - 1354
PY  - 2025
AB  - 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
KW  - Humans
KW  - Frontotemporal Dementia: genetics
KW  - Frontotemporal Dementia: blood
KW  - Frontotemporal Dementia: diagnosis
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Neurofilament Proteins: blood
KW  - Aged
KW  - Adult
KW  - C9orf72 Protein: genetics
KW  - Diagnosis, Differential
KW  - Aged, 80 and over
KW  - Biomarkers: blood
KW  - Mental Disorders: blood
KW  - Mental Disorders: diagnosis
KW  - Mental Disorders: genetics
KW  - Progranulins: genetics
KW  - tau Proteins: genetics
KW  - Mutation: genetics
KW  - Sensitivity and Specificity
KW  - Alzheimer's disease (Other)
KW  - biomarkers (Other)
KW  - diagnosis (Other)
KW  - frontotemporal dementia (Other)
KW  - neurofilament proteins (Other)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - neurofilament protein L (NLM Chemicals)
KW  - C9orf72 Protein (NLM Chemicals)
KW  - C9orf72 protein, human (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
KW  - Progranulins (NLM Chemicals)
KW  - tau Proteins (NLM Chemicals)
KW  - GRN protein, human (NLM Chemicals)
KW  - MAPT protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40605462
C2  - pmc:PMC12322341
DO  - DOI:10.1177/13872877251352103
UR  - https://pub.dzne.de/record/280966
ER  -