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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF2">2 Department of Paediatrics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</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><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF8">8 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Anderson, James" sort="Anderson, James" uniqKey="Anderson J" first="James" last="Anderson">James Anderson</name>
<affiliation><nlm:aff id="awt095-AFF10">10 Department of Radiology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation><nlm:aff id="awt095-AFF11">11 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Dunaway, Todd" sort="Dunaway, Todd" uniqKey="Dunaway T" first="Todd" last="Dunaway">Todd Dunaway</name>
<affiliation><nlm:aff id="awt095-AFF14">14 Neurology LLPC, Tulsa OK 74104 USA</nlm:aff>
</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>
</affiliation>
</author>
<author><name sortKey="Skinner, Steven" sort="Skinner, Steven" uniqKey="Skinner S" first="Steven" last="Skinner">Steven Skinner</name>
<affiliation><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<affiliation><nlm:aff id="awt095-AFF17">17 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hanspal, Era" sort="Hanspal, Era" uniqKey="Hanspal E" first="Era" last="Hanspal">Era Hanspal</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation><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>
</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><nlm:aff id="awt095-AFF21">21 Department of Paediatric Radiology, Great Ormond Street Hospital, London WC1N 3BG, UK</nlm:aff>
</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>
</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>
</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>
</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><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meyer, Esther" sort="Meyer, Esther" uniqKey="Meyer E" first="Esther" last="Meyer">Esther Meyer</name>
<affiliation><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name>
<affiliation><nlm:aff id="awt095-AFF23">23 Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
<affiliation><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>
</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><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Crisp, Sarah" sort="Crisp, Sarah" uniqKey="Crisp S" first="Sarah" last="Crisp">Sarah Crisp</name>
<affiliation><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation><nlm:aff id="awt095-AFF26">26 Clinical Genetics Department, University Hospitals Bristol, NHS Foundation Trust, Bristol BS2 8EG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Carey, Martyn" sort="Carey, Martyn" uniqKey="Carey M" first="Martyn" last="Carey">Martyn Carey</name>
<affiliation><nlm:aff id="awt095-AFF27">27 Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham B15 2WB, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<affiliation><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23687123</idno>
<idno type="pmc">3673459</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673459</idno>
<idno type="RBID">PMC:3673459</idno>
<idno type="doi">10.1093/brain/awt095</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">000222</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000222</idno>
</publicationStmt>
<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><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF2">2 Department of Paediatrics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</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><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF8">8 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Anderson, James" sort="Anderson, James" uniqKey="Anderson J" first="James" last="Anderson">James Anderson</name>
<affiliation><nlm:aff id="awt095-AFF10">10 Department of Radiology, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation><nlm:aff id="awt095-AFF11">11 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</nlm:aff>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Dunaway, Todd" sort="Dunaway, Todd" uniqKey="Dunaway T" first="Todd" last="Dunaway">Todd Dunaway</name>
<affiliation><nlm:aff id="awt095-AFF14">14 Neurology LLPC, Tulsa OK 74104 USA</nlm:aff>
</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>
</affiliation>
</author>
<author><name sortKey="Skinner, Steven" sort="Skinner, Steven" uniqKey="Skinner S" first="Steven" last="Skinner">Steven Skinner</name>
<affiliation><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
</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><nlm:aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<affiliation><nlm:aff id="awt095-AFF17">17 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029 USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hanspal, Era" sort="Hanspal, Era" uniqKey="Hanspal E" first="Era" last="Hanspal">Era Hanspal</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation><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>
</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><nlm:aff id="awt095-AFF21">21 Department of Paediatric Radiology, Great Ormond Street Hospital, London WC1N 3BG, UK</nlm:aff>
</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>
</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>
</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>
</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><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meyer, Esther" sort="Meyer, Esther" uniqKey="Meyer E" first="Esther" last="Meyer">Esther Meyer</name>
<affiliation><nlm:aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name>
<affiliation><nlm:aff id="awt095-AFF23">23 Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
<affiliation><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>
</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><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Crisp, Sarah" sort="Crisp, Sarah" uniqKey="Crisp S" first="Sarah" last="Crisp">Sarah Crisp</name>
<affiliation><nlm:aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation><nlm:aff id="awt095-AFF26">26 Clinical Genetics Department, University Hospitals Bristol, NHS Foundation Trust, Bristol BS2 8EG, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Carey, Martyn" sort="Carey, Martyn" uniqKey="Carey M" first="Martyn" last="Carey">Martyn Carey</name>
<affiliation><nlm:aff id="awt095-AFF27">27 Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham B15 2WB, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<affiliation><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation><nlm:aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<affiliation><nlm:aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</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="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>
<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">23687123</article-id>
<article-id pub-id-type="pmc">3673459</article-id>
<article-id pub-id-type="doi">10.1093/brain/awt095</article-id>
<article-id pub-id-type="publisher-id">awt095</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title>Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Hayflick</surname>
<given-names>Susan J.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kruer</surname>
<given-names>Michael C.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF4"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gregory</surname>
<given-names>Allison</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Haack</surname>
<given-names>Tobias B.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF5"><sup>5</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kurian</surname>
<given-names>Manju A.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF7"><sup>7</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF8"><sup>8</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Houlden</surname>
<given-names>Henry H.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF9"><sup>9</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Anderson</surname>
<given-names>James</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF10"><sup>10</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Boddaert</surname>
<given-names>Nathalie</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF11"><sup>11</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sanford</surname>
<given-names>Lynn</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Harik</surname>
<given-names>Sami I.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF12"><sup>12</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dandu</surname>
<given-names>Vasuki H.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF12"><sup>12</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nardocci</surname>
<given-names>Nardo</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF13"><sup>13</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zorzi</surname>
<given-names>Giovanna</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF13"><sup>13</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dunaway</surname>
<given-names>Todd</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF14"><sup>14</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tarnopolsky</surname>
<given-names>Mark</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF15"><sup>15</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Skinner</surname>
<given-names>Steven</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF16"><sup>16</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Holden</surname>
<given-names>Kenton R.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF16"><sup>16</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Frucht</surname>
<given-names>Steven</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF17"><sup>17</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hanspal</surname>
<given-names>Era</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF18"><sup>18</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schrander-Stumpel</surname>
<given-names>Connie</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF19"><sup>19</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mignot</surname>
<given-names>Cyril</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF20"><sup>20</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Héron</surname>
<given-names>Delphine</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF20"><sup>20</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saunders</surname>
<given-names>Dawn E.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF21"><sup>21</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kaminska</surname>
<given-names>Margaret</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF22"><sup>22</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lin</surname>
<given-names>Jean-Pierre</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF22"><sup>22</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lascelles</surname>
<given-names>Karine</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF22"><sup>22</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cuno</surname>
<given-names>Stephan M.</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF5"><sup>5</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meyer</surname>
<given-names>Esther</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF7"><sup>7</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Garavaglia</surname>
<given-names>Barbara</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF23"><sup>23</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bhatia</surname>
<given-names>Kailash</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF24"><sup>24</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>de Silva</surname>
<given-names>Rajith</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF25"><sup>25</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Crisp</surname>
<given-names>Sarah</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF25"><sup>25</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lunt</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF26"><sup>26</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Carey</surname>
<given-names>Martyn</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF27"><sup>27</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hardy</surname>
<given-names>John</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF9"><sup>9</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meitinger</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF5"><sup>5</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Prokisch</surname>
<given-names>Holger</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF5"><sup>5</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hogarth</surname>
<given-names>Penelope</given-names>
</name>
<xref ref-type="aff" rid="awt095-AFF1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="awt095-AFF3"><sup>3</sup>
</xref>
</contrib>
</contrib-group>
<aff id="awt095-AFF1">1 Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA</aff>
<aff id="awt095-AFF2">2 Department of Paediatrics, Oregon Health and Science University, Portland, 97239 USA</aff>
<aff id="awt095-AFF3">3 Department of Neurology, Oregon Health and Science University, Portland, 97239 USA</aff>
<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</aff>
<aff id="awt095-AFF5">5 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany</aff>
<aff id="awt095-AFF6">6 Institute of Human Genetics, Helmholtz Zentrum München, German Research Centre for Environmental Health, 85764 Neuherberg, Germany</aff>
<aff id="awt095-AFF7">7 Neurosciences Unit, Institute of Child Health, University College London WC1N 3LU, UK</aff>
<aff id="awt095-AFF8">8 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK</aff>
<aff id="awt095-AFF9">9 Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</aff>
<aff id="awt095-AFF10">10 Department of Radiology, Oregon Health and Science University, Portland, 97239 USA</aff>
<aff id="awt095-AFF11">11 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France</aff>
<aff id="awt095-AFF12">12 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205 USA</aff>
<aff id="awt095-AFF13">13 Unit of Child Neurology, Department of Paediatric Neuroscience IRCCS Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan Italy</aff>
<aff id="awt095-AFF14">14 Neurology LLPC, Tulsa OK 74104 USA</aff>
<aff id="awt095-AFF15">15 Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Medical Centre, Hamilton L8N 3Z5 Canada</aff>
<aff id="awt095-AFF16">16 Greenwood Genetic Centre, Greenwood, SC 29646 USA</aff>
<aff id="awt095-AFF17">17 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029 USA</aff>
<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</aff>
<aff id="awt095-AFF19">19 Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands</aff>
<aff id="awt095-AFF20">20 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France</aff>
<aff id="awt095-AFF21">21 Department of Paediatric Radiology, Great Ormond Street Hospital, London WC1N 3BG, UK</aff>
<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</aff>
<aff id="awt095-AFF23">23 Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘Carlo Besta’, 20133 Milan, Italy</aff>
<aff id="awt095-AFF24">24 Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</aff>
<aff id="awt095-AFF25">25 Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK</aff>
<aff id="awt095-AFF26">26 Clinical Genetics Department, University Hospitals Bristol, NHS Foundation Trust, Bristol BS2 8EG, UK</aff>
<aff id="awt095-AFF27">27 Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham B15 2WB, UK</aff>
<author-notes><corresp id="awt095-COR1">Correspondence to: Susan Hayflick, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, 97239 USA E-mail: <email>hayflick@ohsu.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>6</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>17</day>
<month>5</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>6</month>
<year>2014</year>
</pub-date>
<pmc-comment> PMC Release delay is 12 months and 0 days and was based on the
. </pmc-comment>
<volume>136</volume>
<issue>6</issue>
<fpage>1708</fpage>
<lpage>1717</lpage>
<history><date date-type="received"><day>3</day>
<month>12</month>
<year>2012</year>
</date>
<date date-type="rev-recd"><day>22</day>
<month>2</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>24</day>
<month>2</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>© The Author (2013). 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>2013</copyright-year>
</permissions>
<abstract><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>
</abstract>
<kwd-group kwd-group-type="keywords"><kwd>iron</kwd>
<kwd>NBIA</kwd>
<kwd>autophagy</kwd>
<kwd>basal ganglia</kwd>
<kwd>Rett syndrome</kwd>
</kwd-group>
<counts><page-count count="10"></page-count>
</counts>
</article-meta>
</front>
</pmc>
</record>
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