Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Identifieur interne : 000436 ( Pmc/Curation ); précédent : 000435; suivant : 000437Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Auteurs : Marie Coutelier [France, Belgique] ; Cyril Goizet [France] ; Alexandra Durr [France] ; Florence Habarou [France] ; Sara Morais [France, Portugal] ; Alexandre Dionne-Laporte [Canada] ; Feifei Tao [États-Unis] ; Juliette Konop [France] ; Marion Stoll [Australie] ; Perrine Charles [France] ; Maxime Jacoupy [France] ; Raphaël Matusiak [France] ; Isabel Alonso [Portugal] ; Chantal Tallaksen [France] ; Mathilde Mairey [France] ; Marina Kennerson [Australie] ; Marion Gaussen [France] ; Rebecca Schule [États-Unis, Allemagne] ; Maxime Janin [France] ; Fanny Morice-Picard [France] ; Christelle M. Durand [France] ; Christel Depienne [France] ; Patrick Calvas [France] ; Paula Coutinho [Portugal] ; Jean-Marie Saudubray [France] ; Guy Rouleau [Canada] ; Alexis Brice [France] ; Garth Nicholson [Australie] ; Frédéric Darios [France] ; José L. Loureiro [Portugal] ; Stephan Zuchner [États-Unis] ; Chris Ottolenghi [France] ; Fanny Mochel [France] ; Giovanni Stevanin [France]Source :
- Brain [ 0006-8950 ] ; 2015.
Abstract
Mutations in
Url:
DOI: 10.1093/brain/awv143
PubMed: 26026163
PubMed Central: 4553756
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PMC:4553756Le document en format XML
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and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation></author><author><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation></author><author><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation></author><author><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</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:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF17">17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Durand, Christelle M" sort="Durand, Christelle M" uniqKey="Durand C" first="Christelle M." last="Durand">Christelle M. Durand</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF19">19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea></affiliation></author><author><name sortKey="Saudubray, Jean Marie" sort="Saudubray, Jean Marie" uniqKey="Saudubray J" first="Jean-Marie" last="Saudubray">Jean-Marie Saudubray</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. Loureiro</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation></author><author><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26026163</idno><idno type="pmc">4553756</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756</idno><idno type="RBID">PMC:4553756</idno><idno type="doi">10.1093/brain/awv143</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000436</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000436</idno><idno type="wicri:Area/Pmc/Curation">000436</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000436</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia</title><author><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF5">5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</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:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Habarou, Florence" sort="Habarou, Florence" uniqKey="Habarou F" first="Florence" last="Habarou">Florence Habarou</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation></author><author><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation></author><author><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation></author><author><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</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:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF17">17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Durand, Christelle M" sort="Durand, Christelle M" uniqKey="Durand C" first="Christelle M." last="Durand">Christelle M. Durand</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF19">19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea></affiliation></author><author><name sortKey="Saudubray, Jean Marie" sort="Saudubray, Jean Marie" uniqKey="Saudubray J" first="Jean-Marie" last="Saudubray">Jean-Marie Saudubray</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. Loureiro</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea></affiliation></author><author><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mutations in <italic>ALDH18A1</italic>, encoding an enzyme involved in glutamate metabolism, have been implicated in an autosomal recessive neurocutaneous disorder. Coutelier <italic>et al.</italic> widen the associated phenotype to include spastic paraplegia without cutaneous signs. They also report autosomal dominant transmission of <italic>ALDH18A1</italic> mutations, associated with abnormal levels of plasma amino acids.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26026163</article-id><article-id pub-id-type="pmc">4553756</article-id><article-id pub-id-type="doi">10.1093/brain/awv143</article-id><article-id pub-id-type="publisher-id">awv143</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>1030</subject></subj-group></article-categories><title-group><article-title>Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Coutelier</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF5"><sup>5</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Goizet</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="awv143-AFF7"><sup>7</sup></xref><xref ref-type="aff" rid="awv143-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Durr</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Habarou</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="awv143-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Morais</surname><given-names>Sara</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref><xref ref-type="aff" rid="awv143-AFF11"><sup>11</sup></xref><xref ref-type="aff" rid="awv143-AFF12"><sup>12</sup></xref><xref ref-type="aff" rid="awv143-AFF13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dionne-Laporte</surname><given-names>Alexandre</given-names></name><xref ref-type="aff" rid="awv143-AFF14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tao</surname><given-names>Feifei</given-names></name><xref ref-type="aff" rid="awv143-AFF15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Konop</surname><given-names>Juliette</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stoll</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="awv143-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Charles</surname><given-names>Perrine</given-names></name><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jacoupy</surname><given-names>Maxime</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Matusiak</surname><given-names>Raphaël</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Alonso</surname><given-names>Isabel</given-names></name><xref ref-type="aff" rid="awv143-AFF11"><sup>11</sup></xref><xref ref-type="aff" rid="awv143-AFF12"><sup>12</sup></xref><xref ref-type="aff" rid="awv143-AFF13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tallaksen</surname><given-names>Chantal</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="author-notes" rid="awv143-FN1"><sup>#</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mairey</surname><given-names>Mathilde</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kennerson</surname><given-names>Marina</given-names></name><xref ref-type="aff" rid="awv143-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gaussen</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schule</surname><given-names>Rebecca</given-names></name><xref ref-type="aff" rid="awv143-AFF15"><sup>15</sup></xref><xref ref-type="aff" rid="awv143-AFF17"><sup>17</sup></xref><xref ref-type="aff" rid="awv143-AFF18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Janin</surname><given-names>Maxime</given-names></name><xref ref-type="aff" rid="awv143-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Morice-Picard</surname><given-names>Fanny</given-names></name><xref ref-type="aff" rid="awv143-AFF7"><sup>7</sup></xref><xref ref-type="aff" rid="awv143-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Durand</surname><given-names>Christelle M.</given-names></name><xref ref-type="aff" rid="awv143-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Depienne</surname><given-names>Christel</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Calvas</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="awv143-AFF19"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Coutinho</surname><given-names>Paula</given-names></name><xref ref-type="aff" rid="awv143-AFF11"><sup>11</sup></xref><xref ref-type="aff" rid="awv143-AFF12"><sup>12</sup></xref><xref ref-type="aff" rid="awv143-AFF20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Saudubray</surname><given-names>Jean-Marie</given-names></name><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rouleau</surname><given-names>Guy</given-names></name><xref ref-type="aff" rid="awv143-AFF14"><sup>14</sup></xref><xref ref-type="aff" rid="awv143-AFF21"><sup>21</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nicholson</surname><given-names>Garth</given-names></name><xref ref-type="aff" rid="awv143-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Darios</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Loureiro</surname><given-names>José L.</given-names></name><xref ref-type="aff" rid="awv143-AFF11"><sup>11</sup></xref><xref ref-type="aff" rid="awv143-AFF20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zuchner</surname><given-names>Stephan</given-names></name><xref ref-type="aff" rid="awv143-AFF15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ottolenghi</surname><given-names>Chris</given-names></name><xref ref-type="aff" rid="awv143-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mochel</surname><given-names>Fanny</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Stevanin</surname><given-names>Giovanni</given-names></name><xref ref-type="aff" rid="awv143-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awv143-AFF2"><sup>2</sup></xref><xref ref-type="aff" rid="awv143-AFF3"><sup>3</sup></xref><xref ref-type="aff" rid="awv143-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="awv143-AFF6"><sup>6</sup></xref><xref ref-type="aff" rid="awv143-AFF9"><sup>9</sup></xref></contrib><aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</aff><aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</aff><aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</aff><aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</aff><aff id="awv143-AFF5">5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium</aff><aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</aff><aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</aff><aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</aff><aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</aff><aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</aff><aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</aff><aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</aff><aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</aff><aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</aff><aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</aff><aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</aff><aff id="awv143-AFF17">17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen, Germany</aff><aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</aff><aff id="awv143-AFF19">19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse, France</aff><aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</aff><aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</aff></contrib-group><author-notes><corresp id="awv143-COR1">Correspondence to: Giovanni Stevanin, Institut du Cerveau et de la Moelle épinière, CHU Pitié-Salpêtrière, 47 Bd de l’Hôpital, 75013, Paris, France E-mail: <email>giovanni.stevanin@upmc.fr</email></corresp><fn id="awv143-FN1"><p><sup>#</sup>Present address: Department of Neurology, Oslo University Hospital; and Faculty of Medicine, Oslo University, Oslo, Norway</p></fn></author-notes><pub-date pub-type="ppub"><month>8</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>30</day><month>5</month><year>2015</year></pub-date><volume>138</volume><issue>8</issue><fpage>2191</fpage><lpage>2205</lpage><history><date date-type="received"><day>07</day><month>2</month><year>2015</year></date><date date-type="rev-recd"><day>17</day><month>3</month><year>2015</year></date><date date-type="accepted"><day>04</day><month>4</month><year>2015</year></date></history><permissions><copyright-statement>© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2015</copyright-year></permissions><abstract abstract-type="precis"><p>Mutations in <italic>ALDH18A1</italic>, encoding an enzyme involved in glutamate metabolism, have been implicated in an autosomal recessive neurocutaneous disorder. Coutelier <italic>et al.</italic> widen the associated phenotype to include spastic paraplegia without cutaneous signs. They also report autosomal dominant transmission of <italic>ALDH18A1</italic> mutations, associated with abnormal levels of plasma amino acids.</p></abstract><abstract abstract-type="graphical"><p><fig fig-type="featured" id="fig1g" position="float"><caption><p>Mutations in <italic>ALDH18A1</italic>, encoding an enzyme involved in glutamate metabolism, have been implicated in an autosomal recessive neurocutaneous disorder. Coutelier <italic>et al.</italic> widen the associated phenotype to include spastic paraplegia without cutaneous signs. They also report autosomal dominant transmission of <italic>ALDH18A1</italic> mutations, associated with abnormal levels of plasma amino acids.</p></caption><graphic xlink:href="awv143fig1g"></graphic></fig></p></abstract><abstract><p>Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to <italic>ALDH18A1</italic> mutations. <italic>ALDH18A1</italic> encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), an enzyme that catalyses the first and common step of proline and ornithine biosynthesis from glutamate. Through exome sequencing and candidate gene screening, we report two families with autosomal recessive transmission of <italic>ALDH18A1</italic> mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment, without any cutaneous abnormality. More interestingly, we also identified monoallelic <italic>ALDH18A1</italic> mutations segregating in three independent families with autosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadic patients. Low levels of plasma ornithine, citrulline, arginine and proline in four individuals from two families suggested P5CS deficiency. Glutamine loading tests in two fibroblast cultures from two related affected subjects confirmed a metabolic block at the level of P5CS <italic>in vivo.</italic> Besides expanding the clinical spectrum of <italic>ALDH18A1</italic>-related pathology, we describe mutations segregating in an autosomal dominant pattern. The latter are associated with a potential trait biomarker; we therefore suggest including amino acid chromatography in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as the associated phenotype is not distinct from other causative genes.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>ornithine</kwd><kwd>hereditary spastic paraplegia</kwd><kwd>delta-1-pyrroline-5-carboxylate synthase</kwd><kwd><italic>ALDH18A1</italic></kwd><kwd>citrulline</kwd></kwd-group><counts><page-count count="15"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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