Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
Identifieur interne : 002182 ( PubMed/Curation ); précédent : 002181; suivant : 002183Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
Auteurs : Sebastian Paus [Allemagne] ; Gabor Zsurka ; Miriam Baron ; Marcus Deschauer ; Christian Bamberg ; Thomas Klockgether ; Wolfram S. Kunz ; Cornelia KornblumSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, Apraxias (complications), Apraxias (genetics), Blepharoptosis (etiology), DNA Mutational Analysis, DNA-Directed DNA Polymerase (genetics), Female, Heterozygote, Humans, Mutation, Ophthalmoplegia, Chronic Progressive External (complications), Ophthalmoplegia, Chronic Progressive External (genetics), Serine (genetics), Siblings, Tryptophan (genetics).
- MESH :
- chemical , genetics : DNA-Directed DNA Polymerase, Serine, Tryptophan.
- complications : Apraxias, Ophthalmoplegia, Chronic Progressive External.
- etiology : Blepharoptosis.
- genetics : Apraxias, Ophthalmoplegia, Chronic Progressive External.
- Adult, DNA Mutational Analysis, Female, Heterozygote, Humans, Mutation, Siblings.
Abstract
Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and W748S mutations, one suffering from choreoathetosis and apraxia of lid opening due to focal eyelid dystonia that mimicked progression of ptosis, resulting in functional blindness. So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted.
DOI: 10.1002/mds.22135
PubMed: 18546343
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Kunz</name></author><author><name sortKey="Kornblum, Cornelia" sort="Kornblum, Cornelia" uniqKey="Kornblum C" first="Cornelia" last="Kornblum">Cornelia Kornblum</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22135</idno><idno type="RBID">pubmed:18546343</idno><idno type="pmid">18546343</idno><idno type="wicri:Area/PubMed/Corpus">002182</idno><idno type="wicri:Area/PubMed/Curation">002182</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.</title><author><name sortKey="Paus, Sebastian" sort="Paus, Sebastian" uniqKey="Paus S" first="Sebastian" last="Paus">Sebastian Paus</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Bonn, Bonn, Germany. spaus@uni-bonn.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Zsurka, Gabor" sort="Zsurka, Gabor" uniqKey="Zsurka G" first="Gabor" last="Zsurka">Gabor Zsurka</name></author><author><name sortKey="Baron, Miriam" sort="Baron, Miriam" uniqKey="Baron M" first="Miriam" last="Baron">Miriam Baron</name></author><author><name sortKey="Deschauer, Marcus" sort="Deschauer, Marcus" uniqKey="Deschauer M" first="Marcus" last="Deschauer">Marcus Deschauer</name></author><author><name sortKey="Bamberg, Christian" sort="Bamberg, Christian" uniqKey="Bamberg C" first="Christian" last="Bamberg">Christian Bamberg</name></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name></author><author><name sortKey="Kunz, Wolfram S" sort="Kunz, Wolfram S" uniqKey="Kunz W" first="Wolfram S" last="Kunz">Wolfram S. Kunz</name></author><author><name sortKey="Kornblum, Cornelia" sort="Kornblum, Cornelia" uniqKey="Kornblum C" first="Cornelia" last="Kornblum">Cornelia Kornblum</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Apraxias (complications)</term><term>Apraxias (genetics)</term><term>Blepharoptosis (etiology)</term><term>DNA Mutational Analysis</term><term>DNA-Directed DNA Polymerase (genetics)</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Mutation</term><term>Ophthalmoplegia, Chronic Progressive External (complications)</term><term>Ophthalmoplegia, Chronic Progressive External (genetics)</term><term>Serine (genetics)</term><term>Siblings</term><term>Tryptophan (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Directed DNA Polymerase</term><term>Serine</term><term>Tryptophan</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Apraxias</term><term>Ophthalmoplegia, Chronic Progressive External</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Blepharoptosis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Apraxias</term><term>Ophthalmoplegia, Chronic Progressive External</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Mutation</term><term>Siblings</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and W748S mutations, one suffering from choreoathetosis and apraxia of lid opening due to focal eyelid dystonia that mimicked progression of ptosis, resulting in functional blindness. So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18546343</PMID><DateCreated><Year>2008</Year><Month>08</Month><Day>05</Day></DateCreated><DateCompleted><Year>2009</Year><Month>01</Month><Day>12</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>9</Issue><PubDate><Year>2008</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.</ArticleTitle><Pagination><MedlinePgn>1286-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22135</ELocationID><Abstract><AbstractText>Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and W748S mutations, one suffering from choreoathetosis and apraxia of lid opening due to focal eyelid dystonia that mimicked progression of ptosis, resulting in functional blindness. So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Paus</LastName><ForeName>Sebastian</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Bonn, Bonn, Germany. spaus@uni-bonn.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zsurka</LastName><ForeName>Gabor</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Baron</LastName><ForeName>Miriam</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Deschauer</LastName><ForeName>Marcus</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Bamberg</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Klockgether</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Kunz</LastName><ForeName>Wolfram S</ForeName><Initials>WS</Initials></Author><Author ValidYN="Y"><LastName>Kornblum</LastName><ForeName>Cornelia</ForeName><Initials>C</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><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>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>8DUH1N11BX</RegistryNumber><NameOfSubstance UI="D014364">Tryptophan</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.7.-</RegistryNumber><NameOfSubstance UI="C413027">POLG protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.7.7</RegistryNumber><NameOfSubstance UI="D004259">DNA-Directed DNA Polymerase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001072">Apraxias</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001763">Blepharoptosis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004259">DNA-Directed DNA Polymerase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017246">Ophthalmoplegia, Chronic Progressive External</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014364">Tryptophan</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>6</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>1</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>6</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22135</ArticleId><ArticleId IdType="pubmed">18546343</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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