MovDisordV3, Main, Exploration, bibRecord, 002996

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

Identifieur interne : 002996 ( Main/Exploration ); précédent : 002995; suivant : 002997

Apraxia 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.

RBID : ISTEX:3655CD9E41CD27B576E6EE9750B515D5CD4E9BCC

Descripteurs français

Pascal (Inist)
- Apraxie, Blépharospasme, Bontoxilysin, Diagnostic différentiel, Dystonie, Hétérozygotie, Mutation, Pathologie du système nerveux, Ptosis.

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:

https://api.istex.fr/document/3655CD9E41CD27B576E6EE9750B515D5CD4E9BCC/fulltext/pdf

DOI: 10.1002/mds.22135

Affiliations:

Le document en format XML

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<author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
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<term>Apraxia</term>
<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>Serine</term>
<term>Tryptophan</term>
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<term>Ophthalmoplegia, Chronic Progressive External</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Apraxias</term>
<term>Ophthalmoplegia, Chronic Progressive External</term>
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Mutation</term>
<term>Siblings</term>
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<term>Blépharospasme</term>
<term>Bontoxilysin</term>
<term>Diagnostic différentiel</term>
<term>Dystonie</term>
<term>Hétérozygotie</term>
<term>Mutation</term>
<term>Pathologie du   système nerveux</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>
</TEI>
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<region><li>District de Cologne</li>
<li>Rhénanie-du-Nord-Westphalie</li>
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<tree><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Paus, Sebastian" sort="Paus, Sebastian" uniqKey="Paus S" first="Sebastian" last="Paus">Sebastian Paus</name>
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<name sortKey="Bamberg, Christian" sort="Bamberg, Christian" uniqKey="Bamberg C" first="Christian" last="Bamberg">Christian Bamberg</name>
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<name sortKey="Deschauer, Marcus" sort="Deschauer, Marcus" uniqKey="Deschauer M" first="Marcus" last="Deschauer">Marcus Deschauer</name>
<name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name>
<name sortKey="Kornblum, Cornelia" sort="Kornblum, Cornelia" uniqKey="Kornblum C" first="Cornelia" last="Kornblum">Cornelia Kornblum</name>
<name sortKey="Kunz, Wolfram S" sort="Kunz, Wolfram S" uniqKey="Kunz W" first="Wolfram S." last="Kunz">Wolfram S. Kunz</name>
<name sortKey="Zsurka, Gabor" sort="Zsurka, Gabor" uniqKey="Zsurka G" first="Gabor" last="Zsurka">Gabor Zsurka</name>
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Movement Disorders (revue)

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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