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September 04, 2018; 91 (10) Article

Nonataxia symptoms in Friedreich Ataxia

Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, the EFACTS Study Group
First published August 10, 2018, DOI: https://doi.org/10.1212/WNL.0000000000006121
Kathrin Reetz
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Imis Dogan
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Christian Hohenfeld
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Claire Didszun
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Paola Giunti
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Caterina Mariotti
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Alexandra Durr
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Sylvia Boesch
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Thomas Klopstock
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Francisco Javier Rodríguez de Rivera Garrido
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Ludger Schöls
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Ilaria Giordano
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Katrin Bürk
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Massimo Pandolfo
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Jörg B. Schulz
From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
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Nonataxia symptoms in Friedreich Ataxia
Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, the EFACTS Study Group
Neurology Sep 2018, 91 (10) e917-e930; DOI: 10.1212/WNL.0000000000006121

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Article Information

vol. 91 no. 10 e917-e930
DOI: 
https://doi.org/10.1212/WNL.0000000000006121
PubMed: 
30097477

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received January 9, 2018
  • Accepted in final form June 5, 2018
  • First Published August 10, 2018.

Article Versions

  • Previous version (August 10, 2018 - 12:45).
  • You are viewing the most recent version of this article.
Copyright & Usage: 
© 2018 American Academy of Neurology

Author Disclosures

    1. Kathrin Reetz, MD*,
    2. Imis Dogan, PhD*,
    3. Christian Hohenfeld,
    4. Claire Didszun, PhD,
    5. Paola Giunti, MD,
    6. Caterina Mariotti, MD,
    7. Alexandra Durr, MD, PhD,
    8. Sylvia Boesch, MD,
    9. Thomas Klopstock, MD,
    10. Francisco Javier Rodríguez de Rivera Garrido, MD,
    11. Ludger Schöls, MD,
    12. Ilaria Giordano, MD,
    13. Katrin Bürk, MD,
    14. Massimo Pandolfo, MD,
    15. Jörg B. Schulz, MD;
    16. the EFACTS Study Group
  1. Kathrin Reetz, MD*,
  2. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. KR was partly funded by the German Federal Ministry of Education and Research (BMBF 01GQ1402).

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  3. Imis Dogan, PhD*,
  4. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  5. Christian Hohenfeld,
  6. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  7. Claire Didszun, PhD,
  8. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  9. Paola Giunti, MD,
  10. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Dr. Giunti received speaker honoraria from TAKEDA

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. P. Giunti received research support from the European Community Grant FP7- HEALTH-F2-2010-242193 (EFACTS) and she is also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. Ataxia UK

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  11. Caterina Mariotti, MD,
  12. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. Research support from an FP7 Grant from the European Commission (HEALTH-F2-2010- 242193).European Friedreich Ataxia Consortium for Translational Studies (EFACTS)

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  13. Alexandra Durr, MD, PhD,
  14. Scientific Advisory Boards:
    1. Member of International Science Advisory Board of the Helmholtz Initiative on Personalized Medicine Germany Member of the Scientific Advisory Board of the Grenoble Neuroscience Institute of Grenoble, France Board of Directory of the ENP http://www.paris-neuroscience.fr

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. (1) Neurology Genetics, associated editor, (2)Journal of Huntington?s Disease, associated editor; (3) International Advisory Committee for Archives of Neurology, assocaited editor

    Patents:
    1. ?Anaplerotic therapy of Huntington disease and other polyglutamine diseases?, BIO06353 Mochel/Durr (EP 06291873.5, 12/4/2006)

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. (1) Roche, (2) Brainvectis

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. CoEn 2015 : WIN-HD - Decoding Presymptomatic white matter changes in Huntington Disease 2015-2018 AAPG ANR 2017: Restoring brain cholesterol metabolism: Development of clinical Gene therapy for Huntington's disease (HDcyp)

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. ?Anaplerotic therapy of Huntington disease and other polyglutamine diseases?, BIO06353 Mochel/Durr (EP 06291873.5, 12/4/2006)

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  15. Sylvia Boesch, MD,
  16. Scientific Advisory Boards:
    1. commercial: Abbvie, Gruenenthal, Allergan, Reata, Ipsen EFACTS (EU), E-RARE (EU)

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  17. Thomas Klopstock, MD,
  18. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. (1) commercial entity: Santhera Pharmaceuticals (speaker honoraria and travel costs) (2) commercial entity: GenSight Biologics (speaker honoraria and travel costs)

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. (1) commercial entity: Santhera Pharmaceuticals (2) commercial entity: GenSight Biologics

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. (1) commercial entity: Santhera Pharmaceuticals (2) commercial entity: GenSight Biologics (3) commercial entity: Genzyme (4) commercial entity: Actelion

    Research Support, Government Entities:
    1. (1) Bundesministerium f?r Bildung und Forschung (BMBF) (2) European Commission, 7th Framework Programme

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  19. Francisco Javier Rodríguez de Rivera Garrido, MD,
  20. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  21. Ludger Schöls, MD,
  22. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. (1) Speaker honorar from Actelion

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. I received the following grants: PI: Genetic disorders in Arab Societies (grant SCHO754/5-2), DFG: 2014-2017; PI: NEUROMICS (F5-2012-305121) EU: 2012-2017; PI: ESMI (01ED1602B), BMBF: 2016-2019

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. I received additional funding from the HSP-Selbsthilfegruppe Deutschland eV and the F?rderverein fuer HSP-Forschung

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  23. Ilaria Giordano, MD,
  24. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  25. Katrin Bürk, MD,
  26. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. Speaker honoraria from Desitin, Travel expenses from Medtronic, all outside the submitted work

    Editorial Boards:
    1. Editorial board member ?Cerebellum and Ataxias?

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. Paracelsus Elena Klinik Kassel Klinikstr. 16 34128 Kassel, Germany; Attending, 07/15 to date

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. Scientific grant from Actelion Inc. Clinical trial Amaryllis, Pfizer Inc.

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. Enroll-HD Grant from CHDI

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. Reviewer for EU programme Horizon 2020

  27. Massimo Pandolfo, MD,
  28. Scientific Advisory Boards:
    1. (1) Apopharma, DSMB and consulting (2) Voyager Therapeutics, Scientific Advisory Board (3) Biomarin, Scientific Advisory Board

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. (1) Acta Neurologica Belgica, Editorial Board Member, 2011- (2) Orphanet Journal of Rare Diseases, Editorial Board Member, 2013- (3) Neurology Genetics, Associate Editor, 2015-

    Patents:
    1. (1) Direct molecular diagnosis of Friedreich?s ataxia. M. Pandolfo, L. Montermini, M.D. L. Molto, M. Koenig, V. Campuzano, M. Cossee. US patent (2000) 6, 150, 091, WO patent (1997) 9705234.

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. (1) Biomarin (2) Voyager Therapeutics

    Research Support, Government Entities:
    1. (1) Fonds National de la Recherche Scientifique (Belgium)

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. (1) Offrez-moi-la-lune (2) Friedreich's Ataxia Research Alliance (3) Association Belge contre les Maladies neuro-Musculaires

    Stock/Stock Options/Board of Directors Compensation:
    1. (1) Voyager Therapeutics

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. (1) Friedreich's ataxia diagnostic test, Athena Diagnostics, since 1997

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  29. Jörg B. Schulz, MD;
  30. Scientific Advisory Boards:
    1. (1) Novartis; (2) MSD; both for AD, no relationship to the study

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. Travel and speaker honoraria from Pfizer, Novartis, Lilly

    Editorial Boards:
    1. Journal of Neurochemistry, Editor in Chief; eNeuro, Editorial Board; Synapse, Editorial Board

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. BMBF/01GS08137, BMBF/01GS0703, EU FP7, collaborative project #242193

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  31. the EFACTS Study Group
    1. From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.
    1. Correspondence
      Dr. Schulz jschulz{at}ukaachen.de
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