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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF5">5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Habarou, Florence" sort="Habarou, Florence" uniqKey="Habarou F" first="Florence" last="Habarou">Florence Habarou</name><affiliation><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></affiliation></author><author><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></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><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation></author><author><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name><affiliation><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></affiliation></author><author><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation><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></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation><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></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation><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></affiliation><affiliation><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></affiliation><affiliation><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation><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></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><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff></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><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation><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></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><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></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><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation><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></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></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><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><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></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation><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></affiliation></author><author><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><affiliation><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></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></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></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><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF5">5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Habarou, Florence" sort="Habarou, Florence" uniqKey="Habarou F" first="Florence" last="Habarou">Florence Habarou</name><affiliation><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></affiliation></author><author><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></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><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation></author><author><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name><affiliation><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></affiliation></author><author><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation><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></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation><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></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation><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></affiliation><affiliation><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></affiliation><affiliation><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation><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></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><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff></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><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation><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></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><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></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><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation><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></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></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><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff></affiliation><affiliation><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></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation><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></affiliation></author><author><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><affiliation><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></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff></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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