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| 001 | 280966 | ||
| 005 | 20250921002014.0 | ||
| 024 | 7 | _ | |a 10.1177/13872877251352103 |2 doi |
| 024 | 7 | _ | |a pmid:40605462 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC12322341 |2 pmc |
| 024 | 7 | _ | |a 1387-2877 |2 ISSN |
| 024 | 7 | _ | |a 1875-8908 |2 ISSN |
| 024 | 7 | _ | |a altmetric:179285813 |2 altmetric |
| 037 | _ | _ | |a DZNE-2025-01048 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Liu, Ella |0 0009-0003-1854-9835 |b 0 |
| 245 | _ | _ | |a Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders. |
| 260 | _ | _ | |a Amsterdam |c 2025 |b IOS Press |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1756887929_1282 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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% sensitivity, 86.2% specificity, AUC = 0.908). For mildly symptomatic subjects, a cutoff of 16.2 pg/mL (J = 0.601) differentiated groups with 86.7% sensitivity and 73.5% specificity (AUC = 0.870).ConclusionsNfL holds potential as a blood-based biomarker for symptomatic genetic FTD carriers, with moderate accuracy to distinguish PPD from mild forms including C9orf72. |
| 536 | _ | _ | |a 353 - Clinical and Health Care Research (POF4-353) |0 G:(DE-HGF)POF4-353 |c POF4-353 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 7 | |a Alzheimer's disease |2 Other |
| 650 | _ | 7 | |a biomarkers |2 Other |
| 650 | _ | 7 | |a diagnosis |2 Other |
| 650 | _ | 7 | |a frontotemporal dementia |2 Other |
| 650 | _ | 7 | |a neurofilament proteins |2 Other |
| 650 | _ | 7 | |a Neurofilament Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a neurofilament protein L |2 NLM Chemicals |
| 650 | _ | 7 | |a C9orf72 Protein |2 NLM Chemicals |
| 650 | _ | 7 | |a C9orf72 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Biomarkers |2 NLM Chemicals |
| 650 | _ | 7 | |a Progranulins |2 NLM Chemicals |
| 650 | _ | 7 | |a tau Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a GRN protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a MAPT protein, human |2 NLM Chemicals |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Frontotemporal Dementia: genetics |2 MeSH |
| 650 | _ | 2 | |a Frontotemporal Dementia: blood |2 MeSH |
| 650 | _ | 2 | |a Frontotemporal Dementia: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Neurofilament Proteins: blood |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a C9orf72 Protein: genetics |2 MeSH |
| 650 | _ | 2 | |a Diagnosis, Differential |2 MeSH |
| 650 | _ | 2 | |a Aged, 80 and over |2 MeSH |
| 650 | _ | 2 | |a Biomarkers: blood |2 MeSH |
| 650 | _ | 2 | |a Mental Disorders: blood |2 MeSH |
| 650 | _ | 2 | |a Mental Disorders: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Mental Disorders: genetics |2 MeSH |
| 650 | _ | 2 | |a Progranulins: genetics |2 MeSH |
| 650 | _ | 2 | |a tau Proteins: genetics |2 MeSH |
| 650 | _ | 2 | |a Mutation: genetics |2 MeSH |
| 650 | _ | 2 | |a Sensitivity and Specificity |2 MeSH |
| 700 | 1 | _ | |a Jones, Sherri Lee |0 0000-0003-0511-7198 |b 1 |
| 700 | 1 | _ | |a Light, Victoria |0 0009-0000-0621-7970 |b 2 |
| 700 | 1 | _ | |a Teunissen, Charlotte |0 0000-0002-4061-0837 |b 3 |
| 700 | 1 | _ | |a Bouzigues, Arabella |0 0000-0002-0267-8590 |b 4 |
| 700 | 1 | _ | |a Russell, Lucy L |0 0000-0001-5023-5893 |b 5 |
| 700 | 1 | _ | |a Foster, Phoebe H |0 0000-0001-6300-6598 |b 6 |
| 700 | 1 | _ | |a Ferry-Bolder, Eve |0 0009-0006-5083-0901 |b 7 |
| 700 | 1 | _ | |a van Swieten, John C |b 8 |
| 700 | 1 | _ | |a Jiskoot, Lize C |b 9 |
| 700 | 1 | _ | |a Seelaar, Harro |0 0000-0003-1989-7527 |b 10 |
| 700 | 1 | _ | |a Sanchez-Valle, Raquel |b 11 |
| 700 | 1 | _ | |a Laforce, Robert |0 0000-0002-2031-490X |b 12 |
| 700 | 1 | _ | |a Graff, Caroline |0 0000-0002-9949-2951 |b 13 |
| 700 | 1 | _ | |a Galimberti, Daniela |0 0000-0002-9284-5953 |b 14 |
| 700 | 1 | _ | |a Vandenberghe, Rik |0 0000-0001-6237-2502 |b 15 |
| 700 | 1 | _ | |a de Mendonça, Alexandre |0 0000-0002-0488-1453 |b 16 |
| 700 | 1 | _ | |a Tiraboschi, Pietro |b 17 |
| 700 | 1 | _ | |a Santana, Isabel |0 0000-0002-8114-9434 |b 18 |
| 700 | 1 | _ | |a Gerhard, Alexander |0 0000-0002-8071-6062 |b 19 |
| 700 | 1 | _ | |a Levin, Johannes |0 P:(DE-2719)2811659 |b 20 |
| 700 | 1 | _ | |a Sorbi, Sandro |b 21 |
| 700 | 1 | _ | |a Otto, Markus |b 22 |
| 700 | 1 | _ | |a Butler, Chris R |b 23 |
| 700 | 1 | _ | |a Ber, Isabelle Le |0 0000-0002-2508-5181 |b 24 |
| 700 | 1 | _ | |a Finger, Elizabeth |b 25 |
| 700 | 1 | _ | |a Tartaglia, Maria Carmela |0 0000-0002-5944-8497 |b 26 |
| 700 | 1 | _ | |a Masellis, Mario |b 27 |
| 700 | 1 | _ | |a Rowe, James B |b 28 |
| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 29 |u dzne |
| 700 | 1 | _ | |a Moreno, Fermin |0 0000-0001-5200-3164 |b 30 |
| 700 | 1 | _ | |a Borroni, Barbara |0 0000-0001-9340-9814 |b 31 |
| 700 | 1 | _ | |a Zetterberg, Henrik |0 0000-0003-3930-4354 |b 32 |
| 700 | 1 | _ | |a Rohrer, Jonathan D |b 33 |
| 700 | 1 | _ | |a Ducharme, Simon |0 0000-0002-7309-1113 |b 34 |
| 700 | 1 | _ | |a Initiative, Genetic Frontotemporal Dementia |b 35 |e GENFI |
| 700 | 1 | _ | |a Signature, Banque |b 36 |e Collaboration Author |
| 773 | _ | _ | |a 10.1177/13872877251352103 |g Vol. 106, no. 4, p. 1337 - 1354 |0 PERI:(DE-600)2070772-1 |n 4 |p 1337 - 1354 |t Journal of Alzheimer's disease |v 106 |y 2025 |x 1387-2877 |
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