ArticleJournal of neurology, neurosurgery, and psychiatry2022
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for
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Article in Journal of neurology, neurosurgery, and psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
3.5field-weighted citation impact, top 6% of its field
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Autologous SVF therapy modulates neuroinflammation in ALS: phase I trial demonstrating safety and CSF biomarker dynamics.Frontiers in aging neuroscience · 2026Article
- Design considerations for C9orf72 disease prevention trials.Brain : a journal of neurology · 2025Review
- CTAD taskforce: genetic therapies in Alzheimer's disease.The journal of prevention of Alzheimer's disease · 2025Review
- Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics.The Lancet. Neurology · 2025Review
- Emerging biomarkers in amyotrophic lateral sclerosis: from pathogenesis to clinical applications.Frontiers in molecular biosciences · 2025Review
- A Review of Biomarkers of Amyotrophic Lateral Sclerosis: A Pathophysiologic Approach.International journal of molecular sciences · 2024Review
- Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.Autophagy · 2024Article
- SIMOA Diagnostics on Alzheimer's Disease and Frontotemporal Dementia.Biomedicines · 2024Article
- Fluid biomarkers for amyotrophic lateral sclerosis: a review.Molecular neurodegeneration · 2024Review
- Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.Neurology and therapy · 2023Article
- Methods to Discover and Validate Biofluid-Based Biomarkers in Neurodegenerative Dementias.Molecular & cellular proteomics : MCP · 2023Article
- Frontotemporal lobar degeneration.Nature reviews. Disease primers · 2023Review
- Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis.BMC medical genomics · 2023Article
- RNA Dysmetabolism and Repeat-Associated Non-AUG Translation in Frontotemporal Lobar Degeneration/Amyotrophic Lateral Sclerosis due toJMA journal · 2023Review
- Blood biomarkers in ALS: challenges, applications and novel frontiers.Acta neurologica Scandinavica · 2022Review
Corrections and comments
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Authors and funding
40 authors at 20 institutions in 10 countries.
Katherine M Wilson *UK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Eszter Katona *UK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Idoia GlariaUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Mireia CarcoléUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-5054-9016
Imogen J SwiftUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Aitana Sogorb-EsteveUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Carolin HellerUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-1934-6162
Arabella BouziguesDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Amanda J HeslegraveUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Ashvini KeshavanDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Kathryn KnowlesUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.
Saurabh PatilWave Life Sciences, Cambridge, Massachusetts, USA.
Susovan MohapatraWave Life Sciences, Cambridge, Massachusetts, USA.
Yuanjing LiuWave Life Sciences, Cambridge, Massachusetts, USA.
Jaya GoyalWave Life Sciences, Cambridge, Massachusetts, USA.
Raquel Sanchez-ValleAlzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.
Robert Jr LaforceClinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2280-7273
James B RoweDepartment of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7216-8679
Elizabeth FingerDepartment of Clinical Neurological Sciences, University of Western Ontario, University of Western Ontario, London, Ontario, Canada.ORCID 0000-0003-4461-7427
Rik VandenbergheLeuven Brain Institute, KU Leuven, Leuven, Belgium.
Christopher R ButlerNuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Alexander GerhardDivision of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, The University of Manchester, Manchester, UK.ORCID 0000-0002-8071-6062
John C Van SwietenDepartment of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.ORCID 0000-0001-6278-6844
Harro SeelaarDepartment of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.ORCID 0000-0003-1989-7527
Barbara BorroniNeurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.ORCID 0000-0001-9340-9814
Daniela GalimbertiFondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.ORCID 0000-0002-9284-5953
Alexandre de MendonçaFaculty of Medicine, University of Lisbon, Lisbon, Portugal.
Mario MasellisSunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
M Carmela TartagliaTanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada.
Markus OttoDepartment of Neurology, University of Ulm, Ulm, Germany.
Caroline GraffCenter for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden.
Simon DucharmeMcConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.ORCID 0000-0002-7309-1113
Jonathan M SchottDementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-2059-024X
Andrea MalaspinaBarts and The London School of Medicine and Dentistry Blizard Institute, London, UK.
Henrik ZetterbergUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-3930-4354
Ramakrishna BoyanapalliWave Life Sciences, Cambridge, Massachusetts, USA.
Jonathan D RohrerUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-6155-8417
Adrian M IsaacsUK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, London, UK a.isaacs@ucl.ac.uk.ORCID 0000-0002-6820-5534
Genetic FTD Initiative (GENFI)
UK Dementia Research Institute · GBWave Life Sciences (United States) · USErasmus University Rotterdam · NLGerman Center for Neurodegenerative Diseases · DEKarolinska University Hospital · SEMontreal Neurological Institute and Hospital · CAMRC Cognition and Brain Sciences Unit · GBQueen Mary University of London · GBSunnybrook Health Science Centre · CAUniversitat de Barcelona · ESUniversität Ulm · DEUniversité Laval · CAUniversity of Brescia · ITUniversity of Lisbon · PTUniversity of Manchester · GBUniversity of Milan · ITUniversity of Oxford · GBUniversity of Toronto · CAVIB-KU Leuven Center for Brain & Disease Research · BEWestern University · CA
Funding
British Heart Foundation PG/17/90/33415Medical Research Council MC_U105597119Medical Research Council MC_UU_00005/12Medical Research Council MC_UU_00030/14Medical Research Council MR/M008525/1Medical Research Council MR/M023664/1Medical Research Council MR/T046015/1Motor Neurone Disease Association MALASPINA/APR13/817-791Motor Neurone Disease Association TURNER/OCT15/972-797Wellcome Trust
Abstract
objectiveA GGGGCC repeat expansion in the
methodsWe used the single molecule array (Simoa) platform to develop an immunoassay for measuring poly(GP) dipeptide repeat proteins (DPRs) generated by the RESULTS AND
conclusionsWe show the assay to be highly sensitive and robust, passing extensive qualification criteria including low intraplate and interplate variability, a high precision and accuracy in measuring both calibrators and samples, dilutional parallelism, tolerance to sample and standard freeze-thaw and no haemoglobin interference. We used this assay to measure poly(GP) in CSF samples collected through the Genetic FTD Initiative (N=40
Indexed as
Amyotrophic Lateral SclerosisFrontotemporal DementiaBiomarkersC9orf72 ProteinDNA Repeat ExpansionHumansBiomarkersC9orf72 ProteinC9orf72 protein, humanFRONTOTEMPORAL DEMENTIAMOTOR NEURON DISEASE
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LicenceCC BY
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.