Observational studyNeurology2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.
Registry-linked trialAbstract readObservational Study
In one paragraph
Observational study in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04288128 (Integrated Functional Evaluation of the Cerebellum), which is not on this map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
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.
Integrated Functional Evaluation of the Cerebellum
Who cites it
14 citing papers in PubMed.
- Neuroprotection Across Cerebellar and Nigrostriatal Degeneration: Translational Insights from Parkinson's Disease to Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Review
- MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.Nature reviews. Neurology · 2026Review
- Neurochemical Endpoints to Inform Early-Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting.Annals of clinical and translational neurology · 2026Article
- Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.Cerebellum (London, England) · 2026Article
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
- Integrated Plasma and Glial Cell Evidence Indicates a Functional Role for hsa-miR-342-5p in Spinocerebellar Ataxia Type 7 and Its Potential Use as a Biomarker.International journal of molecular sciences · 2026Article
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Predicting disease progression in progressive cerebellar ataxias: integrating clinical, imaging, fluid, genetic, and digital biomarkers.Frontiers in neurology · 2026Review
- Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.Scientific reports · 2025Article
- Neurofilament Light Chain from Neuronally Derived Extracellular Vesicles in Differentiating Parkinson's Disease from Essential Tremor with Resting Tremor.Molecular neurobiology · 2025Article
- Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.Neurology · 2025Article
- Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7.International journal of molecular sciences · 2025Article
- Biomarkers in Spinocerebellar Ataxias.Cerebellum (London, England) · 2025Review
- Substantia nigra degeneration in spinocerebellar ataxia 2 and 7 using neuromelanin-sensitive imaging.European journal of neurology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Giulia CoarelliFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-7824-8343
Charlotte Dubec-FleuryFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Emilien PetitFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Sabrina SayahFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Clara FischerFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Marco NassisiFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Peggy GatignolFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Karim DorghamFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Lina DaghsenFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Pierre DayeFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Paulina CunhaFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Radhia KacherFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Rania HilabFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Hortense HurmicFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Antonin LamazièreFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Jean-Charles LamyFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Marie-Laure WelterFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.ORCID 0000-0003-1423-5620
Marie ChupinFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Jean-François ManginFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Roger LaneFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Bertrand GaymardFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Pierre PougetFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Isabelle AudoFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Alexis BriceFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Sophie Tezenas du MontcelFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-2866-4330
Alexandra DurrFrom the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-8921-7104
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesBrain MRI abnormalities and increases in neurofilament light chain (NfL) have mostly been observed in cross-sectional studies before ataxia onset in polyglutamine spinocerebellar ataxias. Our study aimed to identify longitudinal changes in biological, clinical, and/or imaging biomarkers in spinocerebellar ataxia (SCA) 2 and SCA7 carriers over 1 year.
methodsWe studied SCA2 and SCA7 carriers and controls (expansion-negative relatives) at the Paris Brain Institute. Inclusion criteria included Scale for the Assessment and Rating of Ataxia (SARA) scores between 0 and 15. Assessments at baseline, 6 months, and 12 months comprised neurologic, quality of life, orofacial motor, neuropsychological, and ophthalmologic examinations, along with gait and oculomotor recordings, brain MRI, CSF, and blood sampling. The primary outcome was the longitudinal change in these assessments over 1 year.
resultsWe included 15 SCA2 carriers, 15 SCA7 carriers, and 10 controls between May 2020 and April 2021. At baseline, the ages were similar (41 [37, 46] for SCA2, 38 [28.5, 39.8] for SCA7, and 39.5 [31, 54.5] for controls, DISCUSSION: Despite the limitation of the small sample size, we detected annual changes in preataxic and early ataxic SCA individuals across brain MRI imaging, clinical scores, gait parameters, and retinal thickness. These parameters could serve as potential end points for future therapeutic trials in the preataxic phase. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov NCT04288128.
Indexed as
BiomarkersMagnetic Resonance ImagingNeurofilament ProteinsSpinocerebellar AtaxiasAdultAtaxin-2Ataxin-7BrainDisease ProgressionFemaleHeterozygoteHumansLongitudinal StudiesMaleMiddle AgedAtaxin-2Ataxin-7ATXN2 protein, humanATXN7 protein, humanBiomarkersneurofilament protein LNeurofilament Proteins
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
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Registered trials
NCT04288128ClinicalTrials.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.