000280966 001__ 280966
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000280966 0247_ $$2doi$$a10.1177/13872877251352103
000280966 0247_ $$2pmid$$apmid:40605462
000280966 0247_ $$2pmc$$apmc:PMC12322341
000280966 0247_ $$2ISSN$$a1387-2877
000280966 0247_ $$2ISSN$$a1875-8908
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000280966 037__ $$aDZNE-2025-01048
000280966 041__ $$aEnglish
000280966 082__ $$a610
000280966 1001_ $$00009-0003-1854-9835$$aLiu, Ella$$b0
000280966 245__ $$aAccuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders.
000280966 260__ $$aAmsterdam$$bIOS Press$$c2025
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000280966 520__ $$aBackgroundGenetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to significant symptom overlap, particular as FTD often presents with prolonged psychiatric prodromes.ObjectiveThis study aims to evaluate whether blood-based neurofilament light chain (NfL) can differentiate genetic FTD from PPD, and to determine a global clinical cutoff to differentiate genetic FTD carriers from PPD with high specificity and sensitivity.MethodsData (ages 40-81) were obtained from FTD mutation carriers (GENFI; n = 474; n = 120 C9orf72, n = 114 GRN, n = 50 MAPT, n = 190 controls), and PPD (Biobanque Signature; n = 848). Blood-based NfL was measured with SIMOA HD-X (BbS) and SIMOA HD-1 (GENFI).ResultsBlood-based NfL was higher in all symptomatic mutations compared to PPD. Mildly symptomatic (0 < FTLD CDR-SOB-NM < 4) C9orf72 and GRN carriers also had higher NfL. ROC curve revealed an optimal blood-based NfL cutoff of 22.1 pg/mL (J = 0.647) to distinguish symptomatic genetic FTD from PPD (78.5% sensitivity, 86.2% specificity, AUC = 0.908). For mildly symptomatic subjects, a cutoff of 16.2 pg/mL (J = 0.601) differentiated groups with 86.7% sensitivity and 73.5% specificity (AUC = 0.870).ConclusionsNfL holds potential as a blood-based biomarker for symptomatic genetic FTD carriers, with moderate accuracy to distinguish PPD from mild forms including C9orf72.
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000280966 650_7 $$2Other$$aAlzheimer's disease
000280966 650_7 $$2Other$$abiomarkers
000280966 650_7 $$2Other$$adiagnosis
000280966 650_7 $$2Other$$afrontotemporal dementia
000280966 650_7 $$2Other$$aneurofilament proteins
000280966 650_7 $$2NLM Chemicals$$aNeurofilament Proteins
000280966 650_7 $$2NLM Chemicals$$aneurofilament protein L
000280966 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000280966 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000280966 650_7 $$2NLM Chemicals$$aBiomarkers
000280966 650_7 $$2NLM Chemicals$$aProgranulins
000280966 650_7 $$2NLM Chemicals$$atau Proteins
000280966 650_7 $$2NLM Chemicals$$aGRN protein, human
000280966 650_7 $$2NLM Chemicals$$aMAPT protein, human
000280966 650_2 $$2MeSH$$aHumans
000280966 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000280966 650_2 $$2MeSH$$aFrontotemporal Dementia: blood
000280966 650_2 $$2MeSH$$aFrontotemporal Dementia: diagnosis
000280966 650_2 $$2MeSH$$aMale
000280966 650_2 $$2MeSH$$aFemale
000280966 650_2 $$2MeSH$$aMiddle Aged
000280966 650_2 $$2MeSH$$aNeurofilament Proteins: blood
000280966 650_2 $$2MeSH$$aAged
000280966 650_2 $$2MeSH$$aAdult
000280966 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000280966 650_2 $$2MeSH$$aDiagnosis, Differential
000280966 650_2 $$2MeSH$$aAged, 80 and over
000280966 650_2 $$2MeSH$$aBiomarkers: blood
000280966 650_2 $$2MeSH$$aMental Disorders: blood
000280966 650_2 $$2MeSH$$aMental Disorders: diagnosis
000280966 650_2 $$2MeSH$$aMental Disorders: genetics
000280966 650_2 $$2MeSH$$aProgranulins: genetics
000280966 650_2 $$2MeSH$$atau Proteins: genetics
000280966 650_2 $$2MeSH$$aMutation: genetics
000280966 650_2 $$2MeSH$$aSensitivity and Specificity
000280966 7001_ $$00000-0003-0511-7198$$aJones, Sherri Lee$$b1
000280966 7001_ $$00009-0000-0621-7970$$aLight, Victoria$$b2
000280966 7001_ $$00000-0002-4061-0837$$aTeunissen, Charlotte$$b3
000280966 7001_ $$00000-0002-0267-8590$$aBouzigues, Arabella$$b4
000280966 7001_ $$00000-0001-5023-5893$$aRussell, Lucy L$$b5
000280966 7001_ $$00000-0001-6300-6598$$aFoster, Phoebe H$$b6
000280966 7001_ $$00009-0006-5083-0901$$aFerry-Bolder, Eve$$b7
000280966 7001_ $$avan Swieten, John C$$b8
000280966 7001_ $$aJiskoot, Lize C$$b9
000280966 7001_ $$00000-0003-1989-7527$$aSeelaar, Harro$$b10
000280966 7001_ $$aSanchez-Valle, Raquel$$b11
000280966 7001_ $$00000-0002-2031-490X$$aLaforce, Robert$$b12
000280966 7001_ $$00000-0002-9949-2951$$aGraff, Caroline$$b13
000280966 7001_ $$00000-0002-9284-5953$$aGalimberti, Daniela$$b14
000280966 7001_ $$00000-0001-6237-2502$$aVandenberghe, Rik$$b15
000280966 7001_ $$00000-0002-0488-1453$$ade Mendonça, Alexandre$$b16
000280966 7001_ $$aTiraboschi, Pietro$$b17
000280966 7001_ $$00000-0002-8114-9434$$aSantana, Isabel$$b18
000280966 7001_ $$00000-0002-8071-6062$$aGerhard, Alexander$$b19
000280966 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b20
000280966 7001_ $$aSorbi, Sandro$$b21
000280966 7001_ $$aOtto, Markus$$b22
000280966 7001_ $$aButler, Chris R$$b23
000280966 7001_ $$00000-0002-2508-5181$$aBer, Isabelle Le$$b24
000280966 7001_ $$aFinger, Elizabeth$$b25
000280966 7001_ $$00000-0002-5944-8497$$aTartaglia, Maria Carmela$$b26
000280966 7001_ $$aMasellis, Mario$$b27
000280966 7001_ $$aRowe, James B$$b28
000280966 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b29$$udzne
000280966 7001_ $$00000-0001-5200-3164$$aMoreno, Fermin$$b30
000280966 7001_ $$00000-0001-9340-9814$$aBorroni, Barbara$$b31
000280966 7001_ $$00000-0003-3930-4354$$aZetterberg, Henrik$$b32
000280966 7001_ $$aRohrer, Jonathan D$$b33
000280966 7001_ $$00000-0002-7309-1113$$aDucharme, Simon$$b34
000280966 7001_ $$aInitiative, Genetic Frontotemporal Dementia$$b35$$eGENFI
000280966 7001_ $$aSignature, Banque$$b36$$eCollaboration Author
000280966 773__ $$0PERI:(DE-600)2070772-1$$a10.1177/13872877251352103$$gVol. 106, no. 4, p. 1337 - 1354$$n4$$p1337 - 1354$$tJournal of Alzheimer's disease$$v106$$x1387-2877$$y2025
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