Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Identifieur interne : 000127 ( Ncbi/Checkpoint ); précédent : 000126; suivant : 000128Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Auteurs : Susan J. Hayflick [États-Unis] ; Michael C. Kruer [États-Unis] ; Allison Gregory [États-Unis] ; Tobias B. Haack [Allemagne] ; Manju A. Kurian [Royaume-Uni] ; Henry H. Houlden [Royaume-Uni] ; James Anderson [États-Unis] ; Nathalie Boddaert [France] ; Lynn Sanford [États-Unis] ; Sami I. Harik [États-Unis] ; Vasuki H. Dandu [États-Unis] ; Nardo Nardocci ; Giovanna Zorzi ; Todd Dunaway [États-Unis] ; Mark Tarnopolsky ; Steven Skinner [États-Unis] ; Kenton R. Holden [États-Unis] ; Steven Frucht [États-Unis] ; Era Hanspal [États-Unis] ; Connie Schrander-Stumpel [Pays-Bas] ; Cyril Mignot [France] ; Delphine Héron [France] ; Dawn E. Saunders [Royaume-Uni] ; Margaret Kaminska ; Jean-Pierre Lin ; Karine Lascelles ; Stephan M. Cuno [Allemagne] ; Esther Meyer [Royaume-Uni] ; Barbara Garavaglia [Italie] ; Kailash Bhatia [Royaume-Uni] ; Rajith De Silva [Royaume-Uni] ; Sarah Crisp [Royaume-Uni] ; Peter Lunt [Royaume-Uni] ; Martyn Carey [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Thomas Meitinger [Allemagne] ; Holger Prokisch [Allemagne] ; Penelope Hogarth [États-Unis]Source :
- Brain [ 0006-8950 ] ; 2013.
Abstract
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in
Url:
DOI: 10.1093/brain/awt095
PubMed: 23687123
PubMed Central: 3673459
Affiliations:
- Allemagne, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
- Arkansas, Bavière, Caroline du Sud, Dakota du Sud, District de Haute-Bavière, Lombardie, Oklahoma, Oregon, État de New York, Île-de-France
- Garching bei München, Milan, Paris, Portland
- Université technique de Munich
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<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
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<author><name sortKey="Hanspal, Era" sort="Hanspal, Era" uniqKey="Hanspal E" first="Era" last="Hanspal">Era Hanspal</name>
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<author><name sortKey="Cuno, Stephan M" sort="Cuno, Stephan M" uniqKey="Cuno S" first="Stephan M." last="Cuno">Stephan M. Cuno</name>
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<author><name sortKey="Meyer, Esther" sort="Meyer, Esther" uniqKey="Meyer E" first="Esther" last="Meyer">Esther Meyer</name>
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<author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name>
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<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
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<author><name sortKey="De Silva, Rajith" sort="De Silva, Rajith" uniqKey="De Silva R" first="Rajith" last="De Silva">Rajith De Silva</name>
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<author><name sortKey="Crisp, Sarah" sort="Crisp, Sarah" uniqKey="Crisp S" first="Sarah" last="Crisp">Sarah Crisp</name>
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<author><name sortKey="Carey, Martyn" sort="Carey, Martyn" uniqKey="Carey M" first="Martyn" last="Carey">Martyn Carey</name>
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</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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</affiliation>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
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</placeName>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation wicri:level="4"><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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</placeName>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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</affiliation>
</author>
<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>3 Department of Neurology, Oregon Health and Science University, Portland</wicri:regionArea>
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</placeName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation</title>
<author><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF2">2 Department of Paediatrics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Kruer, Michael C" sort="Kruer, Michael C" uniqKey="Kruer M" first="Michael C." last="Kruer">Michael C. Kruer</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF4">4 Sanford Children’s Health Research Centre, Sioux Falls, SD 57104 USA and Departments of Paediatrics and Neurosciences, University of South Dakota, Vermillion, SD 57069, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>4 Sanford Children’s Health Research Centre, Sioux Falls, SD 57104 USA and Departments of Paediatrics and Neurosciences, University of South Dakota, Vermillion, SD 57069</wicri:regionArea>
<placeName><region type="state">Dakota du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
<affiliation wicri:level="4"><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>5 Institute of Human Genetics, Technische Universität München, 85748 Munich</wicri:regionArea>
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<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Garching bei München</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A." last="Kurian">Manju A. Kurian</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU</wicri:regionArea>
<wicri:noRegion>University College London WC1N 3LU</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF8">8 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>8 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3JH</wicri:regionArea>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry H" sort="Houlden, Henry H" uniqKey="Houlden H" first="Henry H." last="Houlden">Henry H. Houlden</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF9">9 Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>9 Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Anderson, James" sort="Anderson, James" uniqKey="Anderson J" first="James" last="Anderson">James Anderson</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF10">10 Department of Radiology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>10 Department of Radiology, Oregon Health and Science University, Portland</wicri:regionArea>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF11">11 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>11 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland</wicri:regionArea>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harik, Sami I" sort="Harik, Sami I" uniqKey="Harik S" first="Sami I." last="Harik">Sami I. Harik</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR</wicri:regionArea>
<placeName><region type="state">Arkansas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dandu, Vasuki H" sort="Dandu, Vasuki H" uniqKey="Dandu V" first="Vasuki H." last="Dandu">Vasuki H. Dandu</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR</wicri:regionArea>
<placeName><region type="state">Arkansas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
<affiliation><nlm:aff id="awt095-AFF13">13 Unit of Child Neurology, Department of Paediatric Neuroscience IRCCS Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan Italy</nlm:aff>
<wicri:noCountry code="subfield">20133 Milan Italy</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name>
<affiliation><nlm:aff id="awt095-AFF13">13 Unit of Child Neurology, Department of Paediatric Neuroscience IRCCS Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan Italy</nlm:aff>
<wicri:noCountry code="subfield">20133 Milan Italy</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Dunaway, Todd" sort="Dunaway, Todd" uniqKey="Dunaway T" first="Todd" last="Dunaway">Todd Dunaway</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF14">14 Neurology LLPC, Tulsa OK 74104 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
<wicri:cityArea>14 Neurology LLPC</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name>
<affiliation><nlm:aff id="awt095-AFF15">15 Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Medical Centre, Hamilton L8N 3Z5 Canada</nlm:aff>
<wicri:noCountry code="subfield">Hamilton L8N 3Z5 Canada</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Skinner, Steven" sort="Skinner, Steven" uniqKey="Skinner S" first="Steven" last="Skinner">Steven Skinner</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
<wicri:cityArea>16 Greenwood Genetic Centre, Greenwood</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Holden, Kenton R" sort="Holden, Kenton R" uniqKey="Holden K" first="Kenton R." last="Holden">Kenton R. Holden</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
<wicri:cityArea>16 Greenwood Genetic Centre, Greenwood</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF17">17 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>17 Department of Neurology, Mount Sinai School of Medicine, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hanspal, Era" sort="Hanspal, Era" uniqKey="Hanspal E" first="Era" last="Hanspal">Era Hanspal</name>
<affiliation wicri:level="2"><nlm:aff id="awt095-AFF18">18 Parkinson’s Disease and Movement Disorders Centre, Albany Medical Centre, and Department of Neurology, Albany Medical College, NY 12208 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>18 Parkinson’s Disease and Movement Disorders Centre, Albany Medical Centre, and Department of Neurology, Albany Medical College</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Schrander Stumpel, Connie" sort="Schrander Stumpel, Connie" uniqKey="Schrander Stumpel C" first="Connie" last="Schrander-Stumpel">Connie Schrander-Stumpel</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF19">19 Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>19 Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF20">20 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>20 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF20">20 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>20 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Saunders, Dawn E" sort="Saunders, Dawn E" uniqKey="Saunders D" first="Dawn E." last="Saunders">Dawn E. Saunders</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF21">21 Department of Paediatric Radiology, Great Ormond Street Hospital, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>21 Department of Paediatric Radiology, Great Ormond Street Hospital, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kaminska, Margaret" sort="Kaminska, Margaret" uniqKey="Kaminska M" first="Margaret" last="Kaminska">Margaret Kaminska</name>
<affiliation><nlm:aff id="awt095-AFF22">22 Children’s Neurosciences Centre, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH UK</nlm:aff>
<wicri:noCountry code="subfield">London SE1 7EH UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Lin, Jean Pierre" sort="Lin, Jean Pierre" uniqKey="Lin J" first="Jean-Pierre" last="Lin">Jean-Pierre Lin</name>
<affiliation><nlm:aff id="awt095-AFF22">22 Children’s Neurosciences Centre, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH UK</nlm:aff>
<wicri:noCountry code="subfield">London SE1 7EH UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Lascelles, Karine" sort="Lascelles, Karine" uniqKey="Lascelles K" first="Karine" last="Lascelles">Karine Lascelles</name>
<affiliation><nlm:aff id="awt095-AFF22">22 Children’s Neurosciences Centre, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH UK</nlm:aff>
<wicri:noCountry code="subfield">London SE1 7EH UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Cuno, Stephan M" sort="Cuno, Stephan M" uniqKey="Cuno S" first="Stephan M." last="Cuno">Stephan M. Cuno</name>
<affiliation wicri:level="4"><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Garching bei München</settlement>
</placeName>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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</affiliation>
</author>
<author><name sortKey="Meyer, Esther" sort="Meyer, Esther" uniqKey="Meyer E" first="Esther" last="Meyer">Esther Meyer</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU</wicri:regionArea>
<wicri:noRegion>University College London WC1N 3LU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF23">23 Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>23 Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF24">24 Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>24 Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Silva, Rajith" sort="De Silva, Rajith" uniqKey="De Silva R" first="Rajith" last="De Silva">Rajith De Silva</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG</wicri:regionArea>
<wicri:noRegion>Essex RM7 0AG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Crisp, Sarah" sort="Crisp, Sarah" uniqKey="Crisp S" first="Sarah" last="Crisp">Sarah Crisp</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG</wicri:regionArea>
<wicri:noRegion>Essex RM7 0AG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF26">26 Clinical Genetics Department, University Hospitals Bristol, NHS Foundation Trust, Bristol BS2 8EG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>26 Clinical Genetics Department, University Hospitals Bristol, NHS Foundation Trust, Bristol BS2 8EG</wicri:regionArea>
<wicri:noRegion>Bristol BS2 8EG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carey, Martyn" sort="Carey, Martyn" uniqKey="Carey M" first="Martyn" last="Carey">Martyn Carey</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF27">27 Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham B15 2WB, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>27 Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham B15 2WB</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2WB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF9">9 Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>9 Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<affiliation wicri:level="4"><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>5 Institute of Human Genetics, Technische Universität München, 85748 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Garching bei München</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation wicri:level="4"><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>5 Institute of Human Genetics, Technische Universität München, 85748 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Garching bei München</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland</wicri:regionArea>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>3 Department of Neurology, Oregon Health and Science University, Portland</wicri:regionArea>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Brain</title>
<idno type="ISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in <italic>WDR45</italic>
, a new causative gene for neurodegeneration with brain iron accumulation located on the X chromosome. The study subjects consisted of <italic>WDR45</italic>
mutation-positive individuals identified after screening a large international cohort of patients with idiopathic neurodegeneration with brain iron accumulation. Their records were reviewed, including longitudinal clinical, laboratory and imaging data. Twenty-three mutation-positive subjects were identified (20 females). The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism and dementia. Common early comorbidities included seizures, spasticity and disordered sleep. The symptoms of parkinsonism improved with <sc>l</sc>
-DOPA; however, nearly all patients experienced early motor fluctuations that quickly progressed to disabling dyskinesias, warranting discontinuation of <sc>l</sc>
-DOPA. Brain magnetic resonance imaging showed iron in the substantia nigra and globus pallidus, with a ‘halo’ of T<sub>1</sub>
hyperintense signal in the substantia nigra. All patients harboured <italic>de novo</italic>
mutations in <italic>WDR45</italic>
, encoding a beta-propeller protein postulated to play a role in autophagy. Beta-propeller protein-associated neurodegeneration, the only X-linked disorder of neurodegeneration with brain iron accumulation, is associated with <italic>de novo</italic>
mutations in <italic>WDR45</italic>
and is recognizable by a unique combination of clinical, natural history and neuroimaging features.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Arkansas</li>
<li>Bavière</li>
<li>Caroline du Sud</li>
<li>Dakota du Sud</li>
<li>District de Haute-Bavière</li>
<li>Lombardie</li>
<li>Oklahoma</li>
<li>Oregon</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Garching bei München</li>
<li>Milan</li>
<li>Paris</li>
<li>Portland</li>
</settlement>
<orgName><li>Université technique de Munich</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Kaminska, Margaret" sort="Kaminska, Margaret" uniqKey="Kaminska M" first="Margaret" last="Kaminska">Margaret Kaminska</name>
<name sortKey="Lascelles, Karine" sort="Lascelles, Karine" uniqKey="Lascelles K" first="Karine" last="Lascelles">Karine Lascelles</name>
<name sortKey="Lin, Jean Pierre" sort="Lin, Jean Pierre" uniqKey="Lin J" first="Jean-Pierre" last="Lin">Jean-Pierre Lin</name>
<name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
<name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name>
<name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name>
</noCountry>
<country name="États-Unis"><region name="Oregon"><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name>
</region>
<name sortKey="Anderson, James" sort="Anderson, James" uniqKey="Anderson J" first="James" last="Anderson">James Anderson</name>
<name sortKey="Dandu, Vasuki H" sort="Dandu, Vasuki H" uniqKey="Dandu V" first="Vasuki H." last="Dandu">Vasuki H. Dandu</name>
<name sortKey="Dunaway, Todd" sort="Dunaway, Todd" uniqKey="Dunaway T" first="Todd" last="Dunaway">Todd Dunaway</name>
<name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<name sortKey="Hanspal, Era" sort="Hanspal, Era" uniqKey="Hanspal E" first="Era" last="Hanspal">Era Hanspal</name>
<name sortKey="Harik, Sami I" sort="Harik, Sami I" uniqKey="Harik S" first="Sami I." last="Harik">Sami I. Harik</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<name sortKey="Holden, Kenton R" sort="Holden, Kenton R" uniqKey="Holden K" first="Kenton R." last="Holden">Kenton R. Holden</name>
<name sortKey="Kruer, Michael C" sort="Kruer, Michael C" uniqKey="Kruer M" first="Michael C." last="Kruer">Michael C. Kruer</name>
<name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
<name sortKey="Skinner, Steven" sort="Skinner, Steven" uniqKey="Skinner S" first="Steven" last="Skinner">Steven Skinner</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
</region>
<name sortKey="Cuno, Stephan M" sort="Cuno, Stephan M" uniqKey="Cuno S" first="Stephan M." last="Cuno">Stephan M. Cuno</name>
<name sortKey="Cuno, Stephan M" sort="Cuno, Stephan M" uniqKey="Cuno S" first="Stephan M." last="Cuno">Stephan M. Cuno</name>
<name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A." last="Kurian">Manju A. Kurian</name>
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<name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
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<name sortKey="Crisp, Sarah" sort="Crisp, Sarah" uniqKey="Crisp S" first="Sarah" last="Crisp">Sarah Crisp</name>
<name sortKey="De Silva, Rajith" sort="De Silva, Rajith" uniqKey="De Silva R" first="Rajith" last="De Silva">Rajith De Silva</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Houlden, Henry H" sort="Houlden, Henry H" uniqKey="Houlden H" first="Henry H." last="Houlden">Henry H. Houlden</name>
<name sortKey="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A." last="Kurian">Manju A. Kurian</name>
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<name sortKey="Meyer, Esther" sort="Meyer, Esther" uniqKey="Meyer E" first="Esther" last="Meyer">Esther Meyer</name>
<name sortKey="Saunders, Dawn E" sort="Saunders, Dawn E" uniqKey="Saunders D" first="Dawn E." last="Saunders">Dawn E. Saunders</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
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<country name="Italie"><region name="Lombardie"><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name>
</region>
</country>
</tree>
</affiliations>
</record>
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