Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Identifieur interne : 000A23 ( PubMed/Corpus ); précédent : 000A22; suivant : 000A24Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Auteurs : Eva C. Schulte ; 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
Links to Exploration step
pubmed:23436634Le document en format XML
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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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25256</idno><idno type="RBID">pubmed:23436634</idno><idno type="pmid">23436634</idno><idno type="wicri:Area/PubMed/Corpus">000A23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.</title><author><name sortKey="Schulte, Eva C" sort="Schulte, Eva C" uniqKey="Schulte E" first="Eva C" last="Schulte">Eva C. Schulte</name><affiliation><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation></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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23436634</PMID><DateCreated><Year>2013</Year><Month>02</Month><Day>25</Day></DateCreated><DateCompleted><Year>2013</Year><Month>08</Month><Day>06</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>2</Issue><PubDate><Year>2013</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.</ArticleTitle><Pagination><MedlinePgn>224-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25256</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">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).</AbstractText><AbstractText Label="METHODS/RESULTS" NlmCategory="RESULTS">We describe the clinical phenotype and MRI of 3 newly identified individuals with MPAN due to either previously reported or novel homozygous or compound heterozygous genetic alterations in C19orf12.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment. Typical additional features include axonal motor neuropathy and atrophy of the optic nerve. MRI showed iron deposition in the globus pallidus and substantia nigra without the eye-of-the-tiger sign, which is typical for PKAN, the most frequent form of NBIA.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorders Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Schulte</LastName><ForeName>Eva C</ForeName><Initials>EC</Initials><AffiliationInfo><Affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Claussen</LastName><ForeName>Malte C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Jochim</LastName><ForeName>Angela</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Haack</LastName><ForeName>Tobias</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Hartig</LastName><ForeName>Monika</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Hempel</LastName><ForeName>Maja</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Prokisch</LastName><ForeName>Holger</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Haun-Jünger</LastName><ForeName>Ursula</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Winkelmann</LastName><ForeName>Juliane</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hemmer</LastName><ForeName>Bernhard</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Förschler</LastName><ForeName>Annette</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ilg</LastName><ForeName>Rüdiger</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>11</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D033681">Mitochondrial Membrane Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>E1UOL152H7</RegistryNumber><NameOfSubstance UI="D007501">Iron</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001923">Brain Chemistry</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020233">Gait Disorders, Neurologic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005917">Globus Pallidus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007501">Iron</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D033681">Mitochondrial Membrane Transport Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016472">Motor Neuron Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019636">Neurodegenerative Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009901">Optic Nerve Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006211">Pantothenate Kinase-Associated Neurodegeneration</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013378">Substantia Nigra</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>1</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>9</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>9</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year><Month>11</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>8</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25256</ArticleId><ArticleId IdType="pubmed">23436634</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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