Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Identifieur interne : 000910 ( Main/Exploration ); précédent : 000909; suivant : 000911Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Auteurs : Eva C. Schulte [Allemagne] ; Malte C. Claussen ; Angela Jochim ; Tobias Haack ; Monika Hartig ; Maja Hempel ; Holger Prokisch ; Ursula Haun-Jünger ; Juliane Winkelmann ; Bernhard Hemmer ; Annette Förschler ; Rüdiger IlgSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Atrophy, Brain (pathology), Brain Chemistry (genetics), Child, Female, Gait Disorders, Neurologic (etiology), Gait Disorders, Neurologic (physiopathology), Globus Pallidus (pathology), Humans, Iron (metabolism), Magnetic Resonance Imaging, Male, Mitochondrial Membrane Transport Proteins (genetics), Motor Neuron Disease (genetics), Motor Neuron Disease (pathology), Movement Disorders (etiology), Movement Disorders (physiopathology), Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (physiopathology), Optic Nerve Diseases (genetics), Optic Nerve Diseases (pathology), Pantothenate Kinase-Associated Neurodegeneration (genetics), Pantothenate Kinase-Associated Neurodegeneration (physiopathology), Pedigree, Phenotype, Substantia Nigra (pathology), Young Adult.
- MESH :
- chemical , genetics : Mitochondrial Membrane Transport Proteins.
- chemical , metabolism : Iron.
- etiology : Gait Disorders, Neurologic, Movement Disorders.
- genetics : Brain Chemistry, Motor Neuron Disease, Neurodegenerative Diseases, Optic Nerve Diseases, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Brain, Globus Pallidus, Motor Neuron Disease, Optic Nerve Diseases, Substantia Nigra.
- physiopathology : Gait Disorders, Neurologic, Movement Disorders, Neurodegenerative Diseases, Pantothenate Kinase-Associated Neurodegeneration.
- Adolescent, Adult, Age of Onset, Atrophy, Child, Female, Humans, Magnetic Resonance Imaging, Male, Pedigree, Phenotype, Young Adult.
Abstract
Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN).
DOI: 10.1002/mds.25256
PubMed: 23436634
Affiliations:
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Le document en format XML
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Schulte</name><affiliation wicri:level="4"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université technique de Munich</orgName></affiliation></author><author><name sortKey="Claussen, Malte C" sort="Claussen, Malte C" uniqKey="Claussen M" first="Malte C" last="Claussen">Malte C. 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Schulte</name><affiliation wicri:level="4"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université technique de Munich</orgName></affiliation></author><author><name sortKey="Claussen, Malte C" sort="Claussen, Malte C" uniqKey="Claussen M" first="Malte C" last="Claussen">Malte C. Claussen</name></author><author><name sortKey="Jochim, Angela" sort="Jochim, Angela" uniqKey="Jochim A" first="Angela" last="Jochim">Angela Jochim</name></author><author><name sortKey="Haack, Tobias" sort="Haack, Tobias" uniqKey="Haack T" first="Tobias" last="Haack">Tobias Haack</name></author><author><name sortKey="Hartig, Monika" sort="Hartig, Monika" uniqKey="Hartig M" first="Monika" last="Hartig">Monika Hartig</name></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name></author><author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name></author><author><name sortKey="Haun Junger, Ursula" sort="Haun Junger, Ursula" uniqKey="Haun Junger U" first="Ursula" last="Haun-Jünger">Ursula Haun-Jünger</name></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></author><author><name sortKey="Hemmer, Bernhard" sort="Hemmer, Bernhard" uniqKey="Hemmer B" first="Bernhard" last="Hemmer">Bernhard Hemmer</name></author><author><name sortKey="Forschler, Annette" sort="Forschler, Annette" uniqKey="Forschler A" first="Annette" last="Förschler">Annette Förschler</name></author><author><name sortKey="Ilg, Rudiger" sort="Ilg, Rudiger" uniqKey="Ilg R" first="Rüdiger" last="Ilg">Rüdiger Ilg</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Atrophy</term><term>Brain (pathology)</term><term>Brain Chemistry (genetics)</term><term>Child</term><term>Female</term><term>Gait Disorders, Neurologic (etiology)</term><term>Gait Disorders, Neurologic (physiopathology)</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Iron (metabolism)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mitochondrial Membrane Transport Proteins (genetics)</term><term>Motor Neuron Disease (genetics)</term><term>Motor Neuron Disease (pathology)</term><term>Movement Disorders (etiology)</term><term>Movement Disorders (physiopathology)</term><term>Neurodegenerative Diseases (genetics)</term><term>Neurodegenerative Diseases (physiopathology)</term><term>Optic Nerve Diseases (genetics)</term><term>Optic Nerve Diseases (pathology)</term><term>Pantothenate Kinase-Associated Neurodegeneration (genetics)</term><term>Pantothenate Kinase-Associated Neurodegeneration (physiopathology)</term><term>Pedigree</term><term>Phenotype</term><term>Substantia Nigra (pathology)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Mitochondrial Membrane Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Chemistry</term><term>Motor Neuron Disease</term><term>Neurodegenerative Diseases</term><term>Optic Nerve Diseases</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Globus Pallidus</term><term>Motor Neuron Disease</term><term>Optic Nerve Diseases</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Movement Disorders</term><term>Neurodegenerative Diseases</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Atrophy</term><term>Child</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Pedigree</term><term>Phenotype</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN).</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement><orgName><li>Université technique de Munich</li></orgName></list><tree><noCountry><name sortKey="Claussen, Malte C" sort="Claussen, Malte C" uniqKey="Claussen M" first="Malte C" last="Claussen">Malte C. Claussen</name><name sortKey="Forschler, Annette" sort="Forschler, Annette" uniqKey="Forschler A" first="Annette" last="Förschler">Annette Förschler</name><name sortKey="Haack, Tobias" sort="Haack, Tobias" uniqKey="Haack T" first="Tobias" last="Haack">Tobias Haack</name><name sortKey="Hartig, Monika" sort="Hartig, Monika" uniqKey="Hartig M" first="Monika" last="Hartig">Monika Hartig</name><name sortKey="Haun Junger, Ursula" sort="Haun Junger, Ursula" uniqKey="Haun Junger U" first="Ursula" last="Haun-Jünger">Ursula Haun-Jünger</name><name sortKey="Hemmer, Bernhard" sort="Hemmer, Bernhard" uniqKey="Hemmer B" first="Bernhard" last="Hemmer">Bernhard Hemmer</name><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><name sortKey="Ilg, Rudiger" sort="Ilg, Rudiger" uniqKey="Ilg R" first="Rüdiger" last="Ilg">Rüdiger Ilg</name><name sortKey="Jochim, Angela" sort="Jochim, Angela" uniqKey="Jochim A" first="Angela" last="Jochim">Angela Jochim</name><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Schulte, Eva C" sort="Schulte, Eva C" uniqKey="Schulte E" first="Eva C" last="Schulte">Eva C. 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