Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
Identifieur interne : 002996 ( Main/Curation ); précédent : 002995; suivant : 002997Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
Auteurs : Sebastian Paus [Allemagne] ; Gabor Zsurka [Allemagne] ; Miriam Baron [Allemagne] ; Marcus Deschauer [Allemagne] ; Christian Bamberg [Allemagne] ; Thomas Klockgether [Allemagne] ; Wolfram S. Kunz [Allemagne] ; Cornelia Kornblum [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-07-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Apraxia, Apraxias (complications), Apraxias (genetics), Blepharoptosis (etiology), Blepharospasm, Bontoxilysin, DNA Mutational Analysis, DNA-Directed DNA Polymerase (genetics), Differential diagnostic, Dystonia, Female, Heterozygosity, Heterozygote, Humans, Mutation, Nervous system diseases, Ophthalmoplegia, Chronic Progressive External (complications), Ophthalmoplegia, Chronic Progressive External (genetics), POLG, Ptosis, Serine (genetics), Siblings, Tryptophan (genetics), blepharospasm, botulinum neurotoxin, focal dystonia, ptosis.
- 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. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22135
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<term>Apraxias (complications)</term>
<term>Apraxias (genetics)</term>
<term>Blepharoptosis (etiology)</term>
<term>Blepharospasm</term>
<term>Bontoxilysin</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Directed DNA Polymerase (genetics)</term>
<term>Differential diagnostic</term>
<term>Dystonia</term>
<term>Female</term>
<term>Heterozygosity</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Ophthalmoplegia, Chronic Progressive External (complications)</term>
<term>Ophthalmoplegia, Chronic Progressive External (genetics)</term>
<term>POLG</term>
<term>Ptosis</term>
<term>Serine (genetics)</term>
<term>Siblings</term>
<term>Tryptophan (genetics)</term>
<term>blepharospasm</term>
<term>botulinum neurotoxin</term>
<term>focal dystonia</term>
<term>ptosis</term>
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<term>Dystonie</term>
<term>Hétérozygotie</term>
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<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. © 2008 Movement Disorder Society</div>
</front>
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<double idat="0885-3185:2008:Paus S:apraxia:of:lid"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Apraxia of Lid Opening Mimicking Ptosis in Compound Heterozygosity for A467T and W748S POLG1 Mutations</title>
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</author>
<author><name sortKey="Kunz, Wolfram S" sort="Kunz, Wolfram S" uniqKey="Kunz W" first="Wolfram S." last="Kunz">Wolfram S. Kunz</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Epileptology and Life and Brain Center, University of Bonn</s1>
<s2>Bonn</s2>
<s3>DEU</s3>
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<sZ>3 aut.</sZ>
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<country>Allemagne</country>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Komblum, Cornelia" sort="Komblum, Cornelia" uniqKey="Komblum C" first="Cornelia" last="Komblum">Cornelia Komblum</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University of Bonn</s1>
<s2>Bonn</s2>
<s3>DEU</s3>
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<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2008">2008</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Apraxia</term>
<term>Blepharospasm</term>
<term>Bontoxilysin</term>
<term>Differential diagnostic</term>
<term>Dystonia</term>
<term>Heterozygosity</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Ptosis</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Apraxie</term>
<term>Ptosis</term>
<term>Dystonie</term>
<term>Blépharospasme</term>
<term>Pathologie du système nerveux</term>
<term>Diagnostic différentiel</term>
<term>Hétérozygotie</term>
<term>Mutation</term>
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<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>
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<author><name sortKey="Paus, Sebastian" sort="Paus, Sebastian" uniqKey="Paus S" first="Sebastian" last="Paus">Sebastian Paus</name>
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<author><name sortKey="Baron, Miriam" sort="Baron, Miriam" uniqKey="Baron M" first="Miriam" last="Baron">Miriam Baron</name>
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<author><name sortKey="Deschauer, Marcus" sort="Deschauer, Marcus" uniqKey="Deschauer M" first="Marcus" last="Deschauer">Marcus Deschauer</name>
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<author><name sortKey="Bamberg, Christian" sort="Bamberg, Christian" uniqKey="Bamberg C" first="Christian" last="Bamberg">Christian Bamberg</name>
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<author><name sortKey="Kornblum, Cornelia" sort="Kornblum, Cornelia" uniqKey="Kornblum C" first="Cornelia" last="Kornblum">Cornelia Kornblum</name>
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<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>POLG</term>
<term>Serine (genetics)</term>
<term>Siblings</term>
<term>Tryptophan (genetics)</term>
<term>blepharospasm</term>
<term>botulinum neurotoxin</term>
<term>focal dystonia</term>
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<term>DNA Mutational Analysis</term>
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<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. © 2008 Movement Disorder Society</div>
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