Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
Identifieur interne : 001007 ( Ncbi/Merge ); précédent : 001006; suivant : 001008Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
Auteurs : Pablo Mir [Royaume-Uni] ; Mark J. Edwards ; Andrew R J. Curtis ; Kailash P. Bhatia ; Niall P. QuinnSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Basal Ganglia (pathology), Chromosome Disorders (genetics), DNA Mutational Analysis (methods), Dystonic Disorders (blood), Dystonic Disorders (genetics), Dystonic Disorders (pathology), Ferritins (genetics), Humans, Magnetic Resonance Imaging (methods), Male, Mutation, Protein Subunits (genetics).
- MESH :
- chemical , genetics : Ferritins, Protein Subunits.
- blood : Dystonic Disorders.
- genetics : Chromosome Disorders, Dystonic Disorders.
- methods : DNA Mutational Analysis, Magnetic Resonance Imaging.
- pathology : Basal Ganglia, Dystonic Disorders.
- Adult, Humans, Male, Mutation.
Abstract
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.
DOI: 10.1002/mds.20280
PubMed: 15390032
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pubmed:15390032Le document en format XML
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Edwards</name></author><author><name sortKey="Curtis, Andrew R J" sort="Curtis, Andrew R J" uniqKey="Curtis A" first="Andrew R J" last="Curtis">Andrew R J. Curtis</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. 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We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15390032</PMID><DateCreated><Year>2005</Year><Month>02</Month><Day>22</Day></DateCreated><DateCompleted><Year>2005</Year><Month>04</Month><Day>25</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>2</Issue><PubDate><Year>2005</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.</ArticleTitle><Pagination><MedlinePgn>243-5</MedlinePgn></Pagination><Abstract><AbstractText>Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.</AbstractText><CopyrightInformation>Copyright 2004 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mir</LastName><ForeName>Pablo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Edwards</LastName><ForeName>Mark J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Curtis</LastName><ForeName>Andrew R J</ForeName><Initials>AR</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>Niall P</ForeName><Initials>NP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></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="D021122">Protein Subunits</NameOfSubstance></Chemical><Chemical><RegistryNumber>9007-73-2</RegistryNumber><NameOfSubstance UI="D005293">Ferritins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001479">Basal Ganglia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D025063">Chromosome Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005293">Ferritins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D021122">Protein Subunits</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>9</Month><Day>25</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>4</Month><Day>26</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2004</Year><Month>9</Month><Day>25</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">15390032</ArticleId><ArticleId IdType="doi">10.1002/mds.20280</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><name sortKey="Curtis, Andrew R J" sort="Curtis, Andrew R J" uniqKey="Curtis A" first="Andrew R J" last="Curtis">Andrew R J. Curtis</name><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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