ArticleNeurology2022
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01037777 (Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7), which is not on this map. Cited by 14 papers.
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14citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7)
Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1.Biomedicines · 2025Review
- Longitudinal evaluation of serum neurofilament light levels in normal healthy volunteers: defining a threshold of concern.Journal of neurology · 2025Article
- Biomarkers in Spinocerebellar Ataxias.Cerebellum (London, England) · 2025Review
- An update on mammalian and non-mammalian animal models for biomarker development in neurodegenerative disorders.Cellular and molecular life sciences : CMLS · 2025Review
- Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study.Brain communications · 2025Article
- Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.Neurology · 2024Observational
- Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.Cerebellum (London, England) · 2024Article
- Plasma neurofilament light as a promising biomarker in neuronal intranuclear inclusion disease.Journal of neurology · 2024Article
- Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3.Disease models & mechanisms · 2023Article
- Therapeutic Strategies for Spinocerebellar Ataxia Type 1.Biomolecules · 2023Review
- Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.Neurology · 2023Observational
- Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Carlo WilkeFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.ORCID 0000-0002-7250-8597
David MengelFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Ludger SchölsFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Holger HengelFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Maria RakowiczFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Thomas KlockgetherFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Alexandra DurrFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.ORCID 0000-0002-8921-7104
Alessandro FillaFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Bela MeleghFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Rebecca SchüleFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Kathrin ReetzFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Heike JacobiFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.
Matthis SynofzikFrom the Division Translational Genomics of Neurodegenerative Diseases (C.W., D.M., M.S.) and Department of Neurodegenerative Diseases (L.S., H.H., R.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (C.W., D.M., L.S., H.H., R.S., M.S.), Tübingen, Germany; First Department of Neurology (M.R.), Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Neurology (T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K., H.J.), Bonn, Germany; Sorbonne Université (A.D.), Paris Brain Institute, APHP, INSERM, CNRS, France; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Department of Medical Genetics and Szentagothai Research Center (B.M.), University of Pécs Medical School, Hungary; Department of Neurology (K.R.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R.), Forschungszentrum Jülich, RWTH Aachen; and Department of Neurology (H.J.), University Hospital of Heidelberg, Germany.ORCID 0000-0002-2280-7273
German Center for Neurodegenerative Diseases · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesNeurofilament light (NfL) appears to be a promising fluid biomarker in repeat-expansion spinocerebellar ataxias (SCAs), with piloting studies in mixed SCA cohorts suggesting that NfL might be increased at the ataxic stage of SCA type 1 (SCA1). We here hypothesized that NfL is increased not only at the ataxic stage of SCA1, but also at its (likely most treatment-relevant) preataxic stage.
methodsWe assessed serum NfL (sNfL) and CSF NfL (cNfL) levels in both preataxic and ataxic SCA1, leveraging a multicentric cohort recruited at 6 European university centers, and clinical follow-up data, including actually observed (rather than only predicted) conversion to the ataxic stage. Levels of sNfL and cNfL were assessed by single-molecule array and ELISA technique, respectively.
resultsForty individuals with SCA1 (23 preataxic, 17 ataxic) and 89 controls were enrolled, including 11 preataxic individuals converting to the ataxic stage. sNfL levels were increased at the preataxic (median 15.5 pg/mL [interquartile range 10.5-21.1 pg/mL]) and ataxic stage (31.6 pg/mL [26.2-37.7 pg/mL]) compared to controls (6.0 pg/mL [4.7-8.6 pg/mL]), yielding high age-corrected effect sizes (preataxic: DISCUSSION: sNfL levels might provide easily accessible peripheral biomarkers in both preataxic and ataxic SCA1, allowing stratification of preataxic individuals regarding proximity to onset, early detection of neurodegeneration even before volumetric MRI alterations, and potentially capture of treatment response in clinical trials. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov Identifier: NCT01037777. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that NfL levels are increased in both ataxic and preataxic SCA1 and are associated with ataxia onset.
Indexed as
Cerebellar AtaxiaSpinocerebellar AtaxiasAtrophyBiomarkersCerebellumHumansIntermediate FilamentsNeurofilament ProteinsBiomarkersNeurofilament Proteins
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Registered trials
NCT01037777ClinicalTrials.gov
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