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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Identifieur interne : 000404 ( PubMed/Checkpoint ); précédent : 000403; suivant : 000405

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Auteurs : Kathrin Reetz [Allemagne] ; Imis Dogan [Allemagne] ; Ana S. Costa [Allemagne] ; Manuel Dafotakis [Allemagne] ; Kathrin Fedosov [Allemagne] ; Paola Giunti [Royaume-Uni] ; Michael H. Parkinson [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Caterina Mariotti [Italie] ; Marta Panzeri [Italie] ; Lorenzo Nanetti [Italie] ; Javier Arpa [Espagne] ; Irene Sanz-Gallego [Espagne] ; Alexandra Durr [France] ; Perrine Charles [France] ; Sylvia Boesch [Autriche] ; Wolfgang Nachbauer [Autriche] ; Thomas Klopstock [Allemagne] ; Ivan Karin [Allemagne] ; Chantal Depondt [Belgique] ; Jennifer Müller Vom Hagen [Allemagne] ; Ludger Schöls [Allemagne] ; Ilaria A. Giordano [Allemagne] ; Thomas Klockgether [Allemagne] ; Katrin Bürk [Allemagne] ; Massimo Pandolfo [Belgique] ; Jörg B. Schulz [Allemagne]

Source :

RBID : pubmed:25566998

English descriptors

Abstract

Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry.

DOI: 10.1016/S1474-4422(14)70321-7
PubMed: 25566998


Affiliations:


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pubmed:25566998

Le document en format XML

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<name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea>
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<region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
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<name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea>
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<settlement type="city">Londres</settlement>
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<name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name>
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<nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea>
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<settlement type="city">Londres</settlement>
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<name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
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<nlm:affiliation>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation>
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<name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
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<nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation>
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<nlm:affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
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<name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name>
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<country xml:lang="fr">Italie</country>
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<placeName>
<settlement type="city">Milan</settlement>
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<author>
<name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name>
<affiliation wicri:level="3">
<nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea>
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<settlement type="city">Madrid</settlement>
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<name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name>
<affiliation wicri:level="3">
<nlm:affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid</wicri:regionArea>
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<settlement type="city">Madrid</settlement>
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<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="3">
<nlm:affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea>
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<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<affiliation wicri:level="3">
<nlm:affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea>
<wicri:noRegion>Innsbruck</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea>
<wicri:noRegion>Innsbruck</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name>
<affiliation wicri:level="4">
<nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author>
<name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name>
<affiliation wicri:level="4">
<nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author>
<name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name>
<affiliation wicri:level="4">
<nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea>
<placeName>
<settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
<orgName type="university">Université libre de Bruxelles</orgName>
</affiliation>
</author>
<author>
<name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Neurology, Philipps University of Marburg, Marburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University of Marburg, Marburg</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name>
<affiliation wicri:level="4">
<nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea>
<placeName>
<settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
<orgName type="university">Université libre de Bruxelles</orgName>
</affiliation>
</author>
<author>
<name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address: jschulz@ukaachen.de.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea>
<wicri:noRegion>Jülich and Aachen</wicri:noRegion>
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<name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
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<nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich</wicri:regionArea>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich</wicri:regionArea>
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<country xml:lang="fr">Espagne</country>
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<nlm:affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
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<settlement type="city">Paris</settlement>
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<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
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<nlm:affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name>
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<nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea>
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<name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name>
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<nlm:affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea>
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<name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name>
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<nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich</wicri:regionArea>
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<region type="land" nuts="1">Bavière</region>
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<name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name>
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<nlm:affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich</wicri:regionArea>
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<settlement type="city">Munich</settlement>
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<nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea>
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<settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
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<orgName type="university">Université libre de Bruxelles</orgName>
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<name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name>
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<nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea>
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<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
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<name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
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<nlm:affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen</wicri:regionArea>
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<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
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<name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name>
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<nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
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<name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
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<nlm:affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn</wicri:regionArea>
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<region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
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<name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
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<nlm:affiliation>Department of Neurology, Philipps University of Marburg, Marburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University of Marburg, Marburg</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
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<name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name>
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<nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea>
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<settlement type="city">Bruxelles</settlement>
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<orgName type="university">Université libre de Bruxelles</orgName>
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<name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name>
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<nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address: jschulz@ukaachen.de.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen</wicri:regionArea>
<wicri:noRegion>Jülich and Aachen</wicri:noRegion>
<wicri:noRegion>Jülich and Aachen</wicri:noRegion>
<wicri:noRegion>Jülich and Aachen</wicri:noRegion>
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<title level="j">The Lancet. Neurology</title>
<idno type="eISSN">1474-4465</idno>
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<term>Friedreich Ataxia (diagnosis)</term>
<term>Friedreich Ataxia (epidemiology)</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prospective Studies</term>
<term>Translational Medical Research (methods)</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en">
<term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en">
<term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en">
<term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Friedreich Ataxia</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en">
<term>Translational Medical Research</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Activities of Daily Living</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Cohort Studies</term>
<term>Cross-Sectional Studies</term>
<term>Databases, Factual</term>
<term>Female</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prospective Studies</term>
<term>Young Adult</term>
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<front>
<div type="abstract" xml:lang="en">Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry.</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">25566998</PMID>
<DateCreated>
<Year>2015</Year>
<Month>03</Month>
<Day>16</Day>
</DateCreated>
<DateCompleted>
<Year>2015</Year>
<Month>07</Month>
<Day>17</Day>
</DateCompleted>
<DateRevised>
<Year>2015</Year>
<Month>03</Month>
<Day>16</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1474-4465</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>14</Volume>
<Issue>2</Issue>
<PubDate>
<Year>2015</Year>
<Month>Feb</Month>
</PubDate>
</JournalIssue>
<Title>The Lancet. Neurology</Title>
<ISOAbbreviation>Lancet Neurol</ISOAbbreviation>
</Journal>
<ArticleTitle>Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</ArticleTitle>
<Pagination>
<MedlinePgn>174-82</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/S1474-4422(14)70321-7</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S1474-4422(14)70321-7</ELocationID>
<Abstract>
<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Within the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) framework, we assessed a cohort of patients with genetically confirmed Friedreich's ataxia. The primary outcome measure was the Scale for the Assessment and Rating of Ataxia (SARA) and secondary outcome measures were the Inventory of Non-Ataxia Signs (INAS), the performance-based coordination test Spinocerebellar Ataxia Functional Index (SCAFI), the neurocognitive phonemic verbal fluency test, and two quality-of-life measures: the activities of daily living (ADL) part of the Friedreich's Ataxia Rating Scale and EQ-5D. The Friedreich's ataxia cohort was subdivided into three groups: early disease onset (≤14 years), intermediate onset (15-24 years), and late onset (≥25 years), which were compared for clinical characteristics and outcome measures. We used linear regression analysis to estimate the annual decline of clinical outcome measures based on disease duration. This study is registered with ClinicalTrials.gov, number NCT02069509.</AbstractText>
<AbstractText Label="FINDINGS" NlmCategory="RESULTS">We enrolled 592 patients with genetically confirmed Friedreich's ataxia between Sept 15, 2010, and April 30, 2013, at 11 sites in seven European countries. Age of disease onset was inversely correlated with the number of GAA repeats in the frataxin (FXN) gene: every 100 GAA repeats on the smaller repeat allele was associated with a 2·3 year (SE 0·2) earlier onset. Regression analyses showed significant estimated annual worsening of SARA (regression coefficient 0·86 points [SE 0·05], INAS (0·14 points [0·01]), SCAFI Z scores (-0·09 [0·01]), verbal fluency (-0·34 words [0·07]), and ADL (0·64 points [0·04]) during the first 25 years of disease; the regression slope for health-related quality-of-life state from EQ-5D was not significant (-0·33 points [0·18]). For SARA, the predicted annual rate of worsening was significantly higher in early-onset patients (n=354; 1·04 points [0·13]) and intermediate-onset patients (n=137; 1·17 points [0·22]) than in late-onset patients (n=100; 0·56 points [0·10]).</AbstractText>
<AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">The results of this cross-sectional baseline analysis of the EFACTS cohort suggest that earlier disease onset is associated with larger numbers of GAA repeats and more rapid disease progression. The differential estimated progression of ataxia symptoms related to age of onset have implications for the design of clinical trials in Friedreich's ataxia, for which SARA might be the most suitable measure to monitor disease progression.</AbstractText>
<AbstractText Label="FUNDING" NlmCategory="BACKGROUND">European Commission.</AbstractText>
<CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Reetz</LastName>
<ForeName>Kathrin</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Dogan</LastName>
<ForeName>Imis</ForeName>
<Initials>I</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany; Institute of Neuroscience and Medicine 4, Research Centre Jülich, Jülich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Costa</LastName>
<ForeName>Ana S</ForeName>
<Initials>AS</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Dafotakis</LastName>
<ForeName>Manuel</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Fedosov</LastName>
<ForeName>Kathrin</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Giunti</LastName>
<ForeName>Paola</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Parkinson</LastName>
<ForeName>Michael H</ForeName>
<Initials>MH</Initials>
<AffiliationInfo>
<Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sweeney</LastName>
<ForeName>Mary G</ForeName>
<Initials>MG</Initials>
<AffiliationInfo>
<Affiliation>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Mariotti</LastName>
<ForeName>Caterina</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Panzeri</LastName>
<ForeName>Marta</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Nanetti</LastName>
<ForeName>Lorenzo</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Arpa</LastName>
<ForeName>Javier</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sanz-Gallego</LastName>
<ForeName>Irene</ForeName>
<Initials>I</Initials>
<AffiliationInfo>
<Affiliation>Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, Instituto de Investigación Sanitaria, Hospital Universitario La Paz, Madrid, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Durr</LastName>
<ForeName>Alexandra</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Charles</LastName>
<ForeName>Perrine</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Assistance Publique - Hôpitaux de Paris, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France; Institut du Cerveau et de la Moelle épinière; Institut National de la Santé et de la Recherche Médicale U1127; Centre National de la Recherche Scientifique Unité mixte recherché 7225; Université Pierre et Marie Curie Paris VI Unité mixte recherché S975, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Boesch</LastName>
<ForeName>Sylvia</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Nachbauer</LastName>
<ForeName>Wolfgang</ForeName>
<Initials>W</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Klopstock</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo>
<Affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Karin</LastName>
<ForeName>Ivan</ForeName>
<Initials>I</Initials>
<AffiliationInfo>
<Affiliation>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Depondt</LastName>
<ForeName>Chantal</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>vom Hagen</LastName>
<ForeName>Jennifer Müller</ForeName>
<Initials>JM</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Schöls</LastName>
<ForeName>Ludger</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Giordano</LastName>
<ForeName>Ilaria A</ForeName>
<Initials>IA</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Klockgether</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Bürk</LastName>
<ForeName>Katrin</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Philipps University of Marburg, Marburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Pandolfo</LastName>
<ForeName>Massimo</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Schulz</LastName>
<ForeName>Jörg B</ForeName>
<Initials>JB</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address: jschulz@ukaachen.de.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<DataBankList CompleteYN="Y">
<DataBank>
<DataBankName>ClinicalTrials.gov</DataBankName>
<AccessionNumberList>
<AccessionNumber>NCT02069509</AccessionNumber>
</AccessionNumberList>
</DataBank>
</DataBankList>
<GrantList CompleteYN="Y">
<Grant>
<Agency>Department of Health</Agency>
<Country>United Kingdom</Country>
</Grant>
</GrantList>
<PublicationTypeList>
<PublicationType UI="D016430">Clinical Trial</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D016448">Multicenter Study</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2015</Year>
<Month>01</Month>
<Day>05</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo>
<Country>England</Country>
<MedlineTA>Lancet Neurol</MedlineTA>
<NlmUniqueID>101139309</NlmUniqueID>
<ISSNLinking>1474-4422</ISSNLinking>
</MedlineJournalInfo>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList>
<CommentsCorrections RefType="CommentIn">
<RefSource>Nat Rev Neurol. 2015 Apr;11(4):188-90</RefSource>
<PMID Version="1">25752951</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="CommentIn">
<RefSource>Lancet Neurol. 2015 Feb;14(2):130-1</RefSource>
<PMID Version="1">25566997</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList>
<MeshHeading>
<DescriptorName UI="D000203" MajorTopicYN="N">Activities of Daily Living</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003430" MajorTopicYN="N">Cross-Sectional Studies</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D016208" MajorTopicYN="Y">Databases, Factual</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005060" MajorTopicYN="N" Type="Geographic">Europe</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005621" MajorTopicYN="N">Friedreich Ataxia</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008137" MajorTopicYN="N">Longitudinal Studies</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D011446" MajorTopicYN="N">Prospective Studies</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D057170" MajorTopicYN="Y">Translational Medical Research</DescriptorName>
<QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D018911" MajorTopicYN="N">Trinucleotide Repeats</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
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<Month>1</Month>
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<Hour>6</Hour>
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<Month>7</Month>
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<Hour>6</Hour>
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<list>
<country>
<li>Allemagne</li>
<li>Autriche</li>
<li>Belgique</li>
<li>Espagne</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
</country>
<region>
<li>Angleterre</li>
<li>Bade-Wurtemberg</li>
<li>Bavière</li>
<li>Communauté de Madrid</li>
<li>District de Cologne</li>
<li>District de Giessen</li>
<li>District de Haute-Bavière</li>
<li>District de Tübingen</li>
<li>Grand Londres</li>
<li>Hesse (Land)</li>
<li>Lombardie</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Région de Bruxelles-Capitale</li>
<li>Île-de-France</li>
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<li>Bruxelles</li>
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<li>Madrid</li>
<li>Marbourg</li>
<li>Milan</li>
<li>Munich</li>
<li>Paris</li>
<li>Tübingen</li>
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<li>Université Louis-et-Maximilien de Munich</li>
<li>Université libre de Bruxelles</li>
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<name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
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<name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
<name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name>
<name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name>
<name sortKey="Dogan, Imis" sort="Dogan, Imis" uniqKey="Dogan I" first="Imis" last="Dogan">Imis Dogan</name>
<name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name>
<name sortKey="Giordano, Ilaria A" sort="Giordano, Ilaria A" uniqKey="Giordano I" first="Ilaria A" last="Giordano">Ilaria A. Giordano</name>
<name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name>
<name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
<name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name>
<name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
<name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name>
<name sortKey="Vom Hagen, Jennifer Muller" sort="Vom Hagen, Jennifer Muller" uniqKey="Vom Hagen J" first="Jennifer Müller" last="Vom Hagen">Jennifer Müller Vom Hagen</name>
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<name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
</region>
<name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name>
<name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
</country>
<country name="Italie">
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<name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
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<name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name>
<name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name>
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<country name="Espagne">
<region name="Communauté de Madrid">
<name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name>
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<name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name>
</country>
<country name="France">
<region name="Île-de-France">
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
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<country name="Autriche">
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<name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name>
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<name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name>
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<country name="Belgique">
<region name="Région de Bruxelles-Capitale">
<name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name>
</region>
<name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name>
</country>
</tree>
</affiliations>
</record>

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