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 : 000397 ( PubMed/Curation ); précédent : 000396; suivant : 000398Biological 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 :
- The Lancet. Neurology [ 1474-4465 ] ; 2015.
English descriptors
- KwdEn :
- Activities of Daily Living, Adolescent, Adult, Aged, Child, Cohort Studies, Cross-Sectional Studies, Databases, Factual, Europe (epidemiology), Female, Friedreich Ataxia (diagnosis), Friedreich Ataxia (epidemiology), Friedreich Ataxia (genetics), Humans, Longitudinal Studies, Male, Middle Aged, Prospective Studies, Translational Medical Research (methods), Trinucleotide Repeats (genetics), Young Adult.
- MESH :
- geographic , epidemiology : Europe.
- diagnosis : Friedreich Ataxia.
- epidemiology : Friedreich Ataxia.
- genetics : Friedreich Ataxia, Trinucleotide Repeats.
- methods : Translational Medical Research.
- Activities of Daily Living, Adolescent, Adult, Aged, Child, Cohort Studies, Cross-Sectional Studies, Databases, Factual, Female, Humans, Longitudinal Studies, Male, Middle Aged, Prospective Studies, Young Adult.
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
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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; 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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<author><name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name>
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<author><name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name>
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<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
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<author><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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<author><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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<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name>
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<author><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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<author><name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name>
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<author><name sortKey="Sanz Gallego, Irene" sort="Sanz Gallego, Irene" uniqKey="Sanz Gallego I" first="Irene" last="Sanz-Gallego">Irene Sanz-Gallego</name>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
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<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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<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>
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<author><name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name>
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<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, Medical University Innsbruck, Innsbruck</wicri:regionArea>
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<author><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name>
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<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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<author><name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name>
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<wicri:regionArea>Friedrich-Baur-Institute, Department of Neurology, University of Munich, Munich</wicri:regionArea>
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<author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name>
<affiliation wicri:level="1"><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>
</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>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</title>
<author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</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; 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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<author><name sortKey="Dogan, Imis" sort="Dogan, Imis" uniqKey="Dogan I" first="Imis" last="Dogan">Imis Dogan</name>
<affiliation wicri:level="1"><nlm: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.</nlm:affiliation>
<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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<author><name sortKey="Costa, Ana S" sort="Costa, Ana S" uniqKey="Costa A" first="Ana S" last="Costa">Ana S. Costa</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany.</nlm:affiliation>
<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</wicri:regionArea>
</affiliation>
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<author><name sortKey="Dafotakis, Manuel" sort="Dafotakis, Manuel" uniqKey="Dafotakis M" first="Manuel" last="Dafotakis">Manuel Dafotakis</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fedosov, Kathrin" sort="Fedosov, Kathrin" uniqKey="Fedosov K" first="Kathrin" last="Fedosov">Kathrin Fedosov</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Parkinson, Michael H" sort="Parkinson, Michael H" uniqKey="Parkinson M" first="Michael H" last="Parkinson">Michael H. Parkinson</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name>
<affiliation wicri:level="1"><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>
<wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Panzeri, Marta" sort="Panzeri, Marta" uniqKey="Panzeri M" first="Marta" last="Panzeri">Marta Panzeri</name>
<affiliation wicri:level="1"><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>
<wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name>
<affiliation wicri:level="1"><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>
<wicri:regionArea>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Arpa, Javier" sort="Arpa, Javier" uniqKey="Arpa J" first="Javier" last="Arpa">Javier Arpa</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><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="1"><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>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Karin, Ivan" sort="Karin, Ivan" uniqKey="Karin I" first="Ivan" last="Karin">Ivan Karin</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
</author>
</analytic>
<series><title level="j">The Lancet. Neurology</title>
<idno type="eISSN">1474-4465</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
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<term>Cohort Studies</term>
<term>Cross-Sectional Studies</term>
<term>Databases, Factual</term>
<term>Europe (epidemiology)</term>
<term>Female</term>
<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>
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<term>Translational Medical Research (methods)</term>
<term>Trinucleotide Repeats (genetics)</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Friedreich Ataxia</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>
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<AffiliationInfo><Affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.</Affiliation>
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<MeshHeading><DescriptorName UI="D018911" MajorTopicYN="N">Trinucleotide Repeats</DescriptorName>
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