A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia,Brain

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A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia
Brain ( IF 10.6 ) Pub Date : 2021-10-11 , DOI: 10.1093/brain/awab382
Emma L van der Ende ₁ , Esther E Bron ₂ , Jackie M Poos ₁ , Lize C Jiskoot ₁ , Jessica L Panman ₁ , Janne M Papma ₁ , Lieke H Meeter ₁ , Elise G P Dopper ₁ , Carlo Wilke _{3,

4} , Matthis Synofzik _{3,

4} , Carolin Heller ₅ , Imogen J Swift ₅ , Aitana Sogorb-Esteve _{5,

6} , Arabella Bouzigues ₆ , Barbara Borroni ₇ , Raquel Sanchez-Valle ₈ , Fermin Moreno _{9,

10} , Caroline Graff _{11,

12} , Robert Laforce ₁₃ , Daniela Galimberti _{14,

15} , Mario Masellis ₁₆ , Maria Carmela Tartaglia ₁₇ , Elizabeth Finger ₁₈ , Rik Vandenberghe ₁₉ , James B Rowe ₂₀ , Alexandre de Mendonça ₂₁ , Fabrizio Tagliavini ₂₂ , Isabel Santana ₂₃ , Simon Ducharme ₂₄ , Christopher R Butler _{25,

26} , Alexander Gerhard _{27,

28} , Johannes Levin _{29,

30,

31} , Adrian Danek ₂₉ , Markus Otto ₃₂ , Yolande A L Pijnenburg ₃₃ , Sandro Sorbi ₃₄ , Henrik Zetterberg _{5,

35} , Wiro J Niessen ₂ , Jonathan D Rohrer ₆ , Stefan Klein ₂ , John C van Swieten ₁ , Vikram Venkatraghavan ₂ , Harro Seelaar ₁ ,

Affiliation

Department of Neurology and Alzheimer Center, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
UK Dementia Research Institute at University College London, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK.
Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK.
Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy.
Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, IDIBAPS, University of Barcelona, 08036 Barcelona, Spain.
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, 20014 Gipuzkoa, Spain.
Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.
Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, 17176 Solna, Sweden.
Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, 17176 Solna, Sweden.
Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, Université Laval, G1Z 1J4 Québec, Canada.
Centro Dino Ferrari, University of Milan, 20122 Milan, Italy.
Neurodegenerative Diseases Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, ON M4N 3M5 Toronto, Canada.
Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, M5S 1A8 Toronto, Canada.
Department of Clinical Neurological Sciences, University of Western Ontario, ON N6A 3K7 London, Ontario, Canada.
Laboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain Institute, KU Leuven, 3000 Leuven, Belgium.
Cambridge University Centre for Frontotemporal Dementia, University of Cambridge, CB2 0SZ Cambridge, UK.
Faculty of Medicine, University of Lisbon, 1649-028 Lisbon, Portugal.
Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, 3004-504 Coimbra, Portugal.
McConnell Brain Imaging Centre, Montreal Neurological Institute and McGill University Health Centre, McGill University, 3801 Montreal, Québec, Canada.
Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, OX3 9DU Oxford, UK.
Department of Brain Sciences, Imperial College London, SW7 2AZ London, UK.
Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, M20 3LJ Manchester, UK.
Department of Nuclear Medicine and Geriatric Medicine, University Hospital Essen, 45 147 Essen, Germany.
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
German Center for Neurodegenerative Diseases, 81377 Munich, Germany.
Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
Department of Neurology, University of Ulm, 89081 Ulm, Germany.
Department of Neurology, Alzheimer Center, Location VU University Medical Center Amsterdam Neuroscience, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.
Department of Neurofarba, University of Florence, 50139 Florence, Italy.
Department of Psychiatry and Neurochemistry, Sahlgrenska Academy at the University of Gothenburg, 405 30 Mölndal, Sweden.

Several CSF and blood biomarkers for genetic frontotemporal dementia (FTD) have been proposed, including those reflecting neuroaxonal loss (neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH)), synapse dysfunction (neuronal pentraxin 2 (NPTX2)), astrogliosis (glial fibrillary acidic protein (GFAP)), and complement activation (C1q, C3b). Determining the sequence in which biomarkers become abnormal over the course of disease could facilitate disease staging and help identify mutation carriers with prodromal or early-stage FTD, which is especially important as pharmaceutical trials emerge. We aimed to model the sequence of biomarker abnormalities in presymptomatic and symptomatic genetic FTD using cross-sectional data from the Genetic Frontotemporal dementia Initiative (GENFI), a longitudinal cohort study.

中文翻译：

遗传性额颞叶痴呆液体生物标志物的数据驱动疾病进展模型

已经提出了几种遗传性额颞叶痴呆 (FTD) 的脑脊液和血液生物标志物，包括反映神经轴突丢失（神经丝轻链 (NfL) 和磷酸化神经丝重链 (pNfH)）、突触功能障碍（神经元五聚蛋白 2 (NPTX2)）、星形胶质细胞增生的标志物（胶质纤维酸性蛋白（GFAP））和补体激活（C1q、C3b）。确定生物标志物在疾病过程中变得异常的序列可以促进疾病分期，并帮助识别具有前驱期或早期 FTD 的突变携带者，这在药物试验出现时尤其重要。我们的目的是使用纵向队列研究遗传额颞叶痴呆计划 (GENFI) 的横断面数据来模拟症状前和症状性遗传 FTD 中生物标志物异常的序列。

更新日期：2021-10-11

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