title: Quantifiable evaluation of cerebellar signs in children.
abstract: OBJECTIVE
  To validate, examine the internal validity, and adapt to children the electronic version of the composite cerebellar functional severity (CCFS) score.
  
  
  METHODS
  In this multicenter study, we compared the validated manual device with the new electronic version (n = 46) and analyzed its kinetics in 146 patients with Friedreich ataxia through the EFACTS (European Friedreich's Ataxia Consortium for Translational Studies) network, 77 patients with spinocerebellar ataxia, and 48 controls. We validated the CCFS in cerebellar ataxias in healthy children (n = 120) and children with Friedreich ataxia through the EFACTS network (n = 33).
  
  
  RESULTS
  We showed that the electronic CCFS is a reliable replacement for the manual version (intraclass correlation coefficient: 0.98 [0.97-0.99]), and that the electronic CCFS is consistent when performed several times (0.92 [0.84-0.97]). Analysis of kinetics data showed an acceleration and irregularity that is not relevant compared with total speed. The CCFS was tested after modification in a population of patients with Friedreich ataxia between 8 and 19 years old, and showed similar values as adult patients with Friedreich ataxia (1.203 ± 0.125 vs 1.228 ± 0.167) and significantly higher values than controls of the same age (0.863 ± 0.042).
  
  
  CONCLUSIONS
  The electronic CCFS is a quantified measurement of cerebellar ataxia independent of age, usable in individuals aged from 7 to 80 years. The automated nature of the electronic test device makes it reproducible between operators and centers, as well as easy to use.
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Filipovic Pierucci
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Caterina
authors.initials: C
authors.lastname: Mariotti
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Marta
authors.initials: M
authors.lastname: Panzeri
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Paola
authors.initials: P
authors.lastname: Giunti
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Boesch
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Jörg B
authors.initials: JB
authors.lastname: Schulz
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Massimo
authors.initials: M
authors.lastname: Pandolfo
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.affiliation: From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France. sophie.tezenas@psl.aphp.fr.
authors.forename: Sophie
authors.initials: S
authors.lastname: Tezenas du Montcel
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002526:Cerebellar Diseases / Q000175:diagnosis*; D002648:Child; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests / Q000592:standards*; D015203:Reproducibility of Results; D012720:Severity of Illness Index; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis; D020754:Spinocerebellar Ataxias / Q000175:diagnosis; D055815:Young Adult