Observational studyNeurology2023
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Erratum issued Registry-linked trialOpen access · greenAbstract readObservational Study
In one paragraph
Observational study in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT03487367 (Clinical Trial Readiness for SCA1 and SCA3), which is not on this map. Cited by 25 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Clinical Trial Readiness for SCA1 and SCA3
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.International journal of molecular sciences · 2024Pooled it
- Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia.Cerebellum (London, England) · 2024Trial
- Value of MRI Outcomes for Preventive and Early-Stage Trials in Spinocerebellar Ataxias 1 and 3.Annals of clinical and translational neurology · 2026Article
- Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3.Brain : a journal of neurology · 2026Article
- Pediatric-onset spinocerebellar ataxia type 3 with dualFrontiers in genetics · 2026Article
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias.Journal of neurology · 2025Article
- TMEM206 gene knockout improves balance performance in SCA1 transgenic mice.IBRO neuroscience reports · 2025Article
- Cognitive Changes in Pre-ataxic Spinocerebellar Ataxias: A Scoping Review.Movement disorders clinical practice · 2025Article
- Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.Scientific reports · 2025Article
- Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.Neurology · 2025Article
- Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.BMC neurology · 2025Article
- Fixel-Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia.Annals of clinical and translational neurology · 2025Article
- Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.The Lancet regional health. Europe · 2025Article
- The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).Cerebellum (London, England) · 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
- Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3.European journal of neurology · 2025Article
- Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6.Brain communications · 2025Article
- Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors at 1 institution in 2 countries.
Sophie Tezenas du MontcelFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis. sophie.tezenas@aphp.fr.ORCID 0000-0002-2866-4330
Emilien PetitFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Titilayo OlubajoFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Jennifer FaberFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Pauline Lallemant-DudekFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Khalaf BusharaFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Susan PerlmanFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Sub H SubramonyFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.ORCID 0000-0002-8052-9240
David MorganFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Brianna JackmanFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Karla P. FigueroaFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Stefan M. PulstFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Anne-Laure Fauret-AmsellemFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Claudia DufkeFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Henry Lauris PaulsonFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Gülin ÖzFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Thomas KlockgetherFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Alexandra DurrFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.ORCID 0000-0002-8921-7104
Tetsuo AshizawaFrom the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
READISCA Consortium Collaborators
Centre National de la Recherche Scientifique · FR
Funding
Research Education ComponentP30AG072931 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Nicholas M Kanaan · 2021 to 2026
$26.5MNINDS Biomarker RepositoryU24NS095871 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI TATIANA M. FOROUD · 2015 to 2026
$18.3MSupplementary funding for U01NS104326 Clinical Trial Readiness for SCA1 and SCA3 (“READISCA”)U01NS104326 · NINDS · METHODIST HOSPITAL RESEARCH INSTITUTE · PI ASHIZAWA, TETSUO, DURR, ALEXANDRA · 2018 to 2022
$6.1MAtaxin-2 complex proteins in neurodegeneration.R35NS127253 · NINDS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Stefan M. PULST · 2022 to 2026
$4.6MCognitive and Affective Network Dysfunction and Neuromodulation in Aging and SynucleinopathyK08AG071983 · NIA · UNIVERSITY OF FLORIDA · PI BURNS, MATTHEW ROBERT · 2021 to 2025
$772kNIA NIH HHS K08 AG071983NIA NIH HHS P30 AG072931NINDS NIH HHS R35 NS127253NINDS NIH HHS U01 NS104326NINDS NIH HHS U24 NS095871
Abstract
BACKGROUND AND
objectivesIn spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of patients with spinocerebellar ataxia type 1 (SCA1) and 3 (SCA3) to provide essential markers for therapeutic interventions. We looked for clinical, imaging, or biological markers that are present at an early stage of the disease.
methodsWe enrolled carriers of a pathologic
resultsWe enrolled 200 participants: 45 carriers of a pathologic DISCUSSION: READISCA showed the feasibility of harmonized data acquisition in a multinational network. NfL alterations, early sensory ataxia, and corticospinal signs were quantifiable between preataxic participants and controls. Patients with ataxia differed in many parameters from controls and expansion carriers without ataxia, with a graded increase of abnormal measures from control to preataxic to ataxic cohorts. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov NCT03487367.
Indexed as
Cerebellar AtaxiaMachado-Joseph DiseaseSpinocerebellar AtaxiasBiomarkersCerebellumHumansProspective StudiesBiomarkers
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT03487367ClinicalTrials.gov
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.