% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Liu:280966,
      author       = {Liu, Ella and Jones, Sherri Lee and Light, Victoria and
                      Teunissen, Charlotte and Bouzigues, Arabella and Russell,
                      Lucy L and Foster, Phoebe H and Ferry-Bolder, Eve and van
                      Swieten, John C and Jiskoot, Lize C and Seelaar, Harro and
                      Sanchez-Valle, Raquel and Laforce, Robert and Graff,
                      Caroline and Galimberti, Daniela and Vandenberghe, Rik and
                      de Mendonça, Alexandre and Tiraboschi, Pietro and Santana,
                      Isabel and Gerhard, Alexander and Levin, Johannes and Sorbi,
                      Sandro and Otto, Markus and Butler, Chris R and Ber,
                      Isabelle Le and Finger, Elizabeth and Tartaglia, Maria
                      Carmela and Masellis, Mario and Rowe, James B and Synofzik,
                      Matthis and Moreno, Fermin and Borroni, Barbara and
                      Zetterberg, Henrik and Rohrer, Jonathan D and Ducharme,
                      Simon},
      collaboration = {Signature, Banque},
      othercontributors = {Initiative, Genetic Frontotemporal Dementia},
      title        = {{A}ccuracy of blood-based neurofilament light to different
                      genetic frontotemporal dementia from primary psychiatric
                      disorders.},
      journal      = {Journal of Alzheimer's disease},
      volume       = {106},
      number       = {4},
      issn         = {1387-2877},
      address      = {Amsterdam},
      publisher    = {IOS Press},
      reportid     = {DZNE-2025-01048},
      pages        = {1337 - 1354},
      year         = {2025},
      abstract     = {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.},
      keywords     = {Humans / Frontotemporal Dementia: genetics / Frontotemporal
                      Dementia: blood / Frontotemporal Dementia: diagnosis / Male
                      / Female / Middle Aged / Neurofilament Proteins: blood /
                      Aged / Adult / C9orf72 Protein: genetics / Diagnosis,
                      Differential / Aged, 80 and over / Biomarkers: blood /
                      Mental Disorders: blood / Mental Disorders: diagnosis /
                      Mental Disorders: genetics / Progranulins: genetics / tau
                      Proteins: genetics / Mutation: genetics / Sensitivity and
                      Specificity / Alzheimer's disease (Other) / biomarkers
                      (Other) / diagnosis (Other) / frontotemporal dementia
                      (Other) / neurofilament proteins (Other) / Neurofilament
                      Proteins (NLM Chemicals) / neurofilament protein L (NLM
                      Chemicals) / C9orf72 Protein (NLM Chemicals) / C9orf72
                      protein, human (NLM Chemicals) / Biomarkers (NLM Chemicals)
                      / Progranulins (NLM Chemicals) / tau Proteins (NLM
                      Chemicals) / GRN protein, human (NLM Chemicals) / MAPT
                      protein, human (NLM Chemicals)},
      cin          = {AG Levin / Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111016 / I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40605462},
      pmc          = {pmc:PMC12322341},
      doi          = {10.1177/13872877251352103},
      url          = {https://pub.dzne.de/record/280966},
}