A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Identifieur interne : 000E00 ( PubMed/Curation ); précédent : 000D99; suivant : 000E01A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Auteurs : Rita Horvath [Royaume-Uni] ; Elke Holinski-Feder ; Vivienne C M. Neeve ; Angela Pyle ; Helen Griffin ; Deephthi Ashok ; Charlotte Foley ; Gavin Hudson ; Bernd Rautenstrauss ; Gudrun Nürnberg ; Peter Nürnberg ; Jörg Kortler ; Birgit Neitzel ; Ingelore B Ssmann ; Thahira Rahman ; Bernard Keavney ; John Loughlin ; Sophie Hambleton ; Benedikt Schoser ; Hanns Lochmüller ; Mauro Santibanez-Koref ; Patrick F. ChinnerySource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Brain (metabolism), Brain (pathology), Child, Consanguinity, Dystonic Disorders (genetics), Dystonic Disorders (metabolism), Dystonic Disorders (pathology), Humans, Iron (metabolism), Male, Mutation, Missense, Nerve Degeneration (genetics), Nerve Degeneration (metabolism), Nerve Degeneration (pathology), Optic Atrophy (genetics), Optic Atrophy (metabolism), Optic Atrophy (pathology), Pedigree, Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (metabolism), Peripheral Nervous System Diseases (pathology), Syndrome.
- MESH :
- chemical , metabolism : Iron.
- genetics : Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- metabolism : Brain, Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- pathology : Brain, Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- Adolescent, Child, Consanguinity, Humans, Male, Mutation, Missense, Pedigree, Syndrome.
Abstract
Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.
DOI: 10.1002/mds.24980
PubMed: 22508347
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Neeve</name></author><author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name></author><author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name></author><author><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name></author><author><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name></author><author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name></author><author><name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name></author><author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name></author><author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name></author><author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name></author><author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name></author><author><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name></author><author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Child</term><term>Consanguinity</term><term>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (metabolism)</term><term>Dystonic Disorders (pathology)</term><term>Humans</term><term>Iron (metabolism)</term><term>Male</term><term>Mutation, Missense</term><term>Nerve Degeneration (genetics)</term><term>Nerve Degeneration (metabolism)</term><term>Nerve Degeneration (pathology)</term><term>Optic Atrophy (genetics)</term><term>Optic Atrophy (metabolism)</term><term>Optic Atrophy (pathology)</term><term>Pedigree</term><term>Peripheral Nervous System Diseases (genetics)</term><term>Peripheral Nervous System Diseases (metabolism)</term><term>Peripheral Nervous System Diseases (pathology)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Consanguinity</term><term>Humans</term><term>Male</term><term>Mutation, Missense</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">22508347</PMID><DateCreated><Year>2012</Year><Month>05</Month><Day>31</Day></DateCreated><DateCompleted><Year>2012</Year><Month>10</Month><Day>25</Day></DateCompleted><DateRevised><Year>2014</Year><Month>10</Month><Day>14</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>6</Issue><PubDate><Year>2012</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.</ArticleTitle><Pagination><MedlinePgn>789-93</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.24980</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We performed homozygosity mapping and whole-exome sequencing in 2 brothers with brain iron accumulation from a consanguineous family.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified a homozygous missense mutation in both brothers in the very recently identified chromosome 19 open-reading frame 12 gene. The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity. Additional features were optic atrophy, peripheral neuropathy, and learning difficulties. A raised serum creatine kinase indicated neuromuscular involvement, and compensatory mitochondrial proliferation implicated mitochondrial dysfunction as a pathological mechanism.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Further studies are needed to explore the function of the chromosome 19 open-reading frame 12 gene, and extended genetic analysis on larger patient cohorts will provide more information about the presentation and frequency of this disease.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Horvath</LastName><ForeName>Rita</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. rita.horvath@ncl.ac.uk</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holinski-Feder</LastName><ForeName>Elke</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Neeve</LastName><ForeName>Vivienne C M</ForeName><Initials>VC</Initials></Author><Author ValidYN="Y"><LastName>Pyle</LastName><ForeName>Angela</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Griffin</LastName><ForeName>Helen</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Ashok</LastName><ForeName>Deephthi</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Foley</LastName><ForeName>Charlotte</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Hudson</LastName><ForeName>Gavin</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Rautenstrauss</LastName><ForeName>Bernd</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Nürnberg</LastName><ForeName>Gudrun</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Nürnberg</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Kortler</LastName><ForeName>Jörg</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Neitzel</LastName><ForeName>Birgit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Bässmann</LastName><ForeName>Ingelore</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Rahman</LastName><ForeName>Thahira</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Keavney</LastName><ForeName>Bernard</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Loughlin</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hambleton</LastName><ForeName>Sophie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Schoser</LastName><ForeName>Benedikt</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Lochmüller</LastName><ForeName>Hanns</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Santibanez-Koref</LastName><ForeName>Mauro</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Chinnery</LastName><ForeName>Patrick F</ForeName><Initials>PF</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>096919</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>FS/10/008/28146</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>FS/11/63/28944</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701897</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G1000848</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>RG/08/012/25941</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>04</Month><Day>16</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><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="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003241">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><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="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009410">Nerve Degeneration</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009896">Optic Atrophy</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010523">Peripheral Nervous System Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>11</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>2</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>2</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year><Month>4</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>4</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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