MovDisordV3, Main, Merge, bibRecord, 002442

Rhythmic Pupillary Oscillation in Creutzfeldt-Jakob Disease Associated With the Glu/Lys Mutation of Prion Protein Codon 200

Identifieur interne : 002442 ( Main/Merge ); précédent : 002441; suivant : 002443

Rhythmic Pupillary Oscillation in Creutzfeldt-Jakob Disease Associated With the Glu/Lys Mutation of Prion Protein Codon 200

Auteurs : Kaori Nagasaka [Japon] ; Emiko Ohta [Japon] ; Takamura Nagasaka [Japon] ; Shinji Togashi [Japon] ; Michiaki Miwa [Japon] ; Yuki Nakamura [Japon] ; Kazumasa Shindo [Japon] ; Zenji Shiozawa [Japon]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0096522

Descripteurs français

Pascal (Inist)
- Myoclonie, Pathologie du système nerveux, Oscillation, Encéphalopathie spongiforme de Creutzfeldt-Jakob, Mutation, Protéine PrP, Codon, Pupille, Paupière, Prion.

English descriptors

KwdEn :
- Codon, Creutzfeldt-Jakob disease, Eyelid, Mutation, Myoclonus, Nervous system diseases, Oscillation, Prion, Prion protein, Pupil.

Abstract

We report two Creutzfeldt-Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation , who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/ Lys). Alternating dilation and constriction of the pupils ' combined with elevation and descent of the eyelids occurred in correspondence with periodic sharp wave complexes (PSWCs) on the electroencephalogram and with myoclonus of the head, face, and extremities. The onset of pupillary dilation and palpebral elevation coincided with the PSWCs. Initiation of these rhythmic pupillary and palpebral movements may depend on sympathetic activity, but the site of the generator is unclear. Such rhythmic pupillary and palpebral oscillation may be a feature of rapidly progressive CJD with predominant right hemispheric involvement.

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Pascal:10-0096522

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Rhythmic Pupillary Oscillation in Creutzfeldt-Jakob Disease Associated With the Glu/Lys Mutation of Prion Protein Codon 200</title>
<author><name sortKey="Nagasaka, Kaori" sort="Nagasaka, Kaori" uniqKey="Nagasaka K" first="Kaori" last="Nagasaka">Kaori Nagasaka</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
<s2>Chuou-city, Yamanashi</s2>
<s3>JPN</s3>
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<sZ>2 aut.</sZ>
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<author><name sortKey="Ohta, Emiko" sort="Ohta, Emiko" uniqKey="Ohta E" first="Emiko" last="Ohta">Emiko Ohta</name>
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<author><name sortKey="Nagasaka, Takamura" sort="Nagasaka, Takamura" uniqKey="Nagasaka T" first="Takamura" last="Nagasaka">Takamura Nagasaka</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
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</author>
<author><name sortKey="Togashi, Shinji" sort="Togashi, Shinji" uniqKey="Togashi S" first="Shinji" last="Togashi">Shinji Togashi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
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<author><name sortKey="Miwa, Michiaki" sort="Miwa, Michiaki" uniqKey="Miwa M" first="Michiaki" last="Miwa">Michiaki Miwa</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
<s2>Chuou-city, Yamanashi</s2>
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</author>
<author><name sortKey="Nakamura, Yuki" sort="Nakamura, Yuki" uniqKey="Nakamura Y" first="Yuki" last="Nakamura">Yuki Nakamura</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
<s2>Chuou-city, Yamanashi</s2>
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<author><name sortKey="Shindo, Kazumasa" sort="Shindo, Kazumasa" uniqKey="Shindo K" first="Kazumasa" last="Shindo">Kazumasa Shindo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
<s2>Chuou-city, Yamanashi</s2>
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</author>
<author><name sortKey="Shiozawa, Zenji" sort="Shiozawa, Zenji" uniqKey="Shiozawa Z" first="Zenji" last="Shiozawa">Zenji Shiozawa</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Yamanashi, Shimokato</s1>
<s2>Chuou-city, Yamanashi</s2>
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<country>Japon</country>
<wicri:noRegion>Chuou-city, Yamanashi</wicri:noRegion>
</affiliation>
</author>
</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="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<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>Codon</term>
<term>Creutzfeldt-Jakob disease</term>
<term>Eyelid</term>
<term>Mutation</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>Oscillation</term>
<term>Prion</term>
<term>Prion protein</term>
<term>Pupil</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Myoclonie</term>
<term>Pathologie du   système nerveux</term>
<term>Oscillation</term>
<term>Encéphalopathie spongiforme de Creutzfeldt-Jakob</term>
<term>Mutation</term>
<term>Protéine PrP</term>
<term>Codon</term>
<term>Pupille</term>
<term>Paupière</term>
<term>Prion</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report two Creutzfeldt-Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation , who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/ Lys). Alternating dilation and constriction of the pupils ' combined with elevation and descent of the eyelids occurred in correspondence with periodic sharp wave complexes (PSWCs) on the electroencephalogram and with myoclonus of the head, face, and extremities. The onset of pupillary dilation and palpebral elevation coincided with the PSWCs. Initiation of these rhythmic pupillary and palpebral movements may depend on sympathetic activity, but the site of the generator is unclear. Such rhythmic pupillary and palpebral oscillation may be a feature of rapidly progressive CJD with predominant right hemispheric involvement.</div>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
</country>
</list>
<tree><country name="Japon"><noRegion><name sortKey="Nagasaka, Kaori" sort="Nagasaka, Kaori" uniqKey="Nagasaka K" first="Kaori" last="Nagasaka">Kaori Nagasaka</name>
</noRegion>
<name sortKey="Miwa, Michiaki" sort="Miwa, Michiaki" uniqKey="Miwa M" first="Michiaki" last="Miwa">Michiaki Miwa</name>
<name sortKey="Nagasaka, Takamura" sort="Nagasaka, Takamura" uniqKey="Nagasaka T" first="Takamura" last="Nagasaka">Takamura Nagasaka</name>
<name sortKey="Nakamura, Yuki" sort="Nakamura, Yuki" uniqKey="Nakamura Y" first="Yuki" last="Nakamura">Yuki Nakamura</name>
<name sortKey="Ohta, Emiko" sort="Ohta, Emiko" uniqKey="Ohta E" first="Emiko" last="Ohta">Emiko Ohta</name>
<name sortKey="Shindo, Kazumasa" sort="Shindo, Kazumasa" uniqKey="Shindo K" first="Kazumasa" last="Shindo">Kazumasa Shindo</name>
<name sortKey="Shiozawa, Zenji" sort="Shiozawa, Zenji" uniqKey="Shiozawa Z" first="Zenji" last="Shiozawa">Zenji Shiozawa</name>
<name sortKey="Togashi, Shinji" sort="Togashi, Shinji" uniqKey="Togashi S" first="Shinji" last="Togashi">Shinji Togashi</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Rhythmic Pupillary Oscillation in Creutzfeldt-Jakob Disease Associated With the Glu/Lys Mutation of Prion Protein Codon 200

Rhythmic Pupillary Oscillation in Creutzfeldt-Jakob Disease Associated With the Glu/Lys Mutation of Prion Protein Codon 200

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri