-
Tytuł:
-
Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia.
-
Autorzy:
-
van der Ende EL; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Xiao M; Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
Xu D; Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
Poos JM; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Panman JL; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.; Department of Radiology, Leiden University Medical Center, Leiden, Netherlands.
Jiskoot LC; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Meeter LH; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Dopper EG; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Papma JM; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Heller C; Dementia Research Institute, Department of Neurodegenerative Disease, University College London, London, United Kingdom.
Convery R; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Moore K; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Bocchetta M; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Neason M; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Peakman G; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Cash DM; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Teunissen CE; Neurochemistry Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Center, Amsterdam, Netherlands.
Graff C; Karolinska Institutet, Dept NVS, Division of Neurogeriatrics, Bioclinicum, Stockholm, Sweden.; Unit of Hereditary Dementia, Theme Aging, Karolinska University Hospital-Solna, Stockholm, Sweden.
Synofzik M; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Moreno F; Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
Finger E; Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
Sánchez-Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clinic de Barcelona, Barcelona, Spain.
Vandenberghe R; Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Laforce R Jr; Clinique Interdisciplinaire de Mémoire du CHU de Québec, Département des Sciences Neurologiques, Université Laval, Québec, Quebec City, Canada.
Masellis M; Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
Tartaglia MC; Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada.
Rowe JB; Cambridge University Centre for Frontotemporal Dementia, University of Cambridge, Cambridge, United Kingdom.
Butler CR; Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom.
Ducharme S; Montreal Neurological Institute and McGill University Health Centre, McGill University, Montreal, Québec, Canada.
Gerhard A; Department of Nuclear Medicine and Geriatric Medicine, University Hospital Essen, Essen, Germany.; Divison of Neuroscience and Experimental Psychology, University of Manchester, Manchester, United Kingdom.
Danek A; Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany.
Levin J; Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases, (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, (SyNergy), Munich, Germany.
Pijnenburg YA; Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, Netherlands.
Otto M; Department of Neurology, Universität Ulm, Ulm, Germany.
Borroni B; Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Tagliavini F; Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.
de Mendonca A; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Santana I; Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Galimberti D; Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Seelaar H; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands.
Rohrer JD; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Worley PF; Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
van Swieten JC; Department of Neurology and Alzheimer Center, Erasmus University Medical Center, Rotterdam, Netherlands .
-
Corporate Authors:
-
Genetic Frontotemporal Dementia Initiative (GENFI)
-
Źródło:
-
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2020 Jun; Vol. 91 (6), pp. 612-621. Date of Electronic Publication: 2020 Apr 09.
-
Typ publikacji:
-
Journal Article; Research Support, Non-U.S. Gov't
-
Język:
-
English
-
Imprint Name(s):
-
Publication: London : BMJ Publishing Group
Original Publication: London : British Medical Association
-
MeSH Terms:
-
C-Reactive Protein/*cerebrospinal fluid
Frontotemporal Dementia/*diagnosis
Nerve Tissue Proteins/*cerebrospinal fluid
Adult ; Aged ; Biomarkers/cerebrospinal fluid ; Disease Progression ; Female ; Frontotemporal Dementia/cerebrospinal fluid ; Frontotemporal Dementia/genetics ; Heterozygote ; Humans ; Male ; Middle Aged ; Neurofilament Proteins/cerebrospinal fluid
-
References:
-
Brain Behav Immun. 2016 Nov;58:201-208. (PMID: 27444967)
Acta Neuropathol. 2008 Apr;115(4):471-8. (PMID: 17987278)
Arch Neurol. 2012 Jan;69(1):96-104. (PMID: 22232349)
Neurobiol Dis. 2018 Jun;114:120-128. (PMID: 29501530)
Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. (PMID: 11464847)
Neuroimage. 2015 Jan 1;104:366-72. (PMID: 25255942)
Neurology. 2011 Mar 15;76(11):1006-14. (PMID: 21325651)
Lancet Neurol. 2019 Dec;18(12):1103-1111. (PMID: 31701893)
Ann Clin Transl Neurol. 2019 Mar 07;6(4):698-707. (PMID: 31019994)
Lancet Neurol. 2015 Mar;14(3):253-62. (PMID: 25662776)
PLoS One. 2017 Aug 3;12(8):e0182098. (PMID: 28771542)
Alzheimers Dement. 2020 Jan;16(1):79-90. (PMID: 31477517)
Elife. 2017 Apr 25;6:. (PMID: 28440224)
Cell. 2016 May 5;165(4):921-35. (PMID: 27114033)
Alzheimers Res Ther. 2018 Jan 15;10(1):5. (PMID: 29370833)
Ann Neurol. 1991 Oct;30(4):572-80. (PMID: 1789684)
Elife. 2017 Mar 23;6:. (PMID: 28440221)
Nat Neurosci. 2010 Sep;13(9):1090-7. (PMID: 20729843)
Neuron. 2003 Jul 31;39(3):513-28. (PMID: 12895424)
Front Neural Circuits. 2018 May 16;12:37. (PMID: 29867371)
Neurobiol Dis. 2012 Feb;45(2):711-22. (PMID: 22062772)
Am J Alzheimers Dis Other Demen. 2010 Nov;25(7):547-55. (PMID: 20858652)
Brain. 2011 Sep;134(Pt 9):2456-77. (PMID: 21810890)
Cancer. 1950 Jan;3(1):32-5. (PMID: 15405679)
Neural Plast. 2018 Apr 11;2018:8413496. (PMID: 29755516)
Neuropathol Appl Neurobiol. 2015 Dec;41(7):858-81. (PMID: 26041104)
Neuron. 2015 Mar 18;85(6):1257-72. (PMID: 25754824)
J Neurosci. 2011 Aug 3;31(31):11126-32. (PMID: 21813674)
JAMA Neurol. 2016 May 1;73(5):561-71. (PMID: 27018940)
Nat Rev Neurosci. 2016 Dec;17(12):777-792. (PMID: 27829687)
J Neurosci. 1996 Apr 15;16(8):2463-78. (PMID: 8786423)
Proteomics Clin Appl. 2015 Aug;9(7-8):715-31. (PMID: 25676562)
Nat Rev Neurol. 2018 Oct;14(10):577-589. (PMID: 30171200)
Dement Neuropsychol. 2008 Apr-Jun;2(2):102-107. (PMID: 29213551)
F1000Res. 2018 Jul 5;7:1012. (PMID: 30191060)
Brain Res. 2009 Apr 10;1265:158-70. (PMID: 19368810)
IEEE Trans Med Imaging. 2015 Sep;34(9):1976-88. (PMID: 25879909)
Mol Neurodegener. 2014 Jun 06;9:22. (PMID: 24902845)
Mol Neurodegener. 2015 Apr 03;10:16. (PMID: 25888325)
-
Grant Information:
-
P30 AG066507 United States AG NIA NIH HHS; MC_UU_00005/12 United Kingdom MRC_ Medical Research Council; MR/M008525/1 United Kingdom MRC_ Medical Research Council; R35 NS097966 United States NS NINDS NIH HHS; MR/M023664/1 United Kingdom MRC_ Medical Research Council; 103838 United Kingdom WT_ Wellcome Trust; MR/K010395/1 United Kingdom MRC_ Medical Research Council; MC_U105597119 United Kingdom MRC_ Medical Research Council; United Kingdom WT_ Wellcome Trust
-
Contributed Indexing:
-
Investigator: MN Rossor; JD Warren; NC Fox; R Guerreiro; J Bras; J Nicholas; S Mead; L Jiskoot; L Meeter; J Panman; M Barandiaran; B Indakoetxea; A Gabilondo; M Tainta; M Arriba; A Gorostidi; M Zulaica; J Villanua; S Borrego-Ecija; J Olives; A Lladó; M Balasa; A Antonell; N Bargallo; E Premi; M Cosseddu; S Gazzina; A Padovani; R Gasparotti; S Archetti; S Black; S Mitchell; E Rogaeva; M Freedman; R Keren; D Tang-Wai; L Öijerstedt; C Andersson; V Jelic; H Thonberg; A Arighi; C Fenoglio; E Scarpini; G Fumagalli; T Cope; C Timberlake; T Rittman; C Shoesmith; R Bartha; R Rademakers; C Wilke; HO Karnarth; B Bender; R Bruffaerts; P Vandamme; M Vandenbulcke; CB Ferreira; G Miltenberger; C Maruta; A Verdelho; S Afonso; R Taipa; P Caroppo; GD Fede; G Giaccone; S Prioni; V Redaelli; G Rossi; P Tiraboschi; D Duro; MR Almeida; M Castelo-Branco; MJ Leitão; M Tabuas-Pereira; B Santiago; S Gauthier; P Rosa-Neto; M Veldsman; T Flanagan; C Prix; T Hoegen; E Wlasich; S Loosli; S Schonecker; E Semler; S Anderl-Straub; L Benussi; G Binetti; R Ghidoni; M Pievani; G Lombardi; B Nacmias; C Ferrari; V Bessi
-
Substance Nomenclature:
-
0 (Biomarkers)
0 (Nerve Tissue Proteins)
0 (Neurofilament Proteins)
0 (neurofilament protein L)
0 (neuronal pentraxin)
9007-41-4 (C-Reactive Protein)
-
Entry Date(s):
-
Date Created: 20200411 Date Completed: 20201109 Latest Revision: 20231115
-
Update Code:
-
20240105
-
PubMed Central ID:
-
PMC7279197
-
DOI:
-
10.1136/jnnp-2019-322493
-
PMID:
-
32273328
-
Introduction: Synapse dysfunction is emerging as an early pathological event in frontotemporal dementia (FTD), however biomarkers are lacking. We aimed to investigate the value of cerebrospinal fluid (CSF) neuronal pentraxins (NPTXs), a family of proteins involved in homeostatic synapse plasticity, as novel biomarkers in genetic FTD.
Methods: We included 106 presymptomatic and 54 symptomatic carriers of a pathogenic mutation in GRN , C9orf72 or MAPT , and 70 healthy non-carriers participating in the Genetic Frontotemporal dementia Initiative (GENFI), all of whom had at least one CSF sample. We measured CSF concentrations of NPTX2 using an in-house ELISA, and NPTX1 and NPTX receptor (NPTXR) by Western blot. We correlated NPTX2 with corresponding clinical and neuroimaging datasets as well as with CSF neurofilament light chain (NfL) using linear regression analyses.
Results: Symptomatic mutation carriers had lower NPTX2 concentrations (median 643 pg/mL, IQR (301-872)) than presymptomatic carriers (1003 pg/mL (624-1358), p<0.001) and non-carriers (990 pg/mL (597-1373), p<0.001) (corrected for age). Similar results were found for NPTX1 and NPTXR. Among mutation carriers, NPTX2 concentration correlated with several clinical disease severity measures, NfL and grey matter volume of the frontal, temporal and parietal lobes, insula and whole brain. NPTX2 predicted subsequent decline in phonemic verbal fluency and Clinical Dementia Rating scale plus FTD modules. In longitudinal CSF samples, available in 13 subjects, NPTX2 decreased around symptom onset and in the symptomatic stage.
Discussion: We conclude that NPTX2 is a promising synapse-derived disease progression biomarker in genetic FTD.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.)
