MovDisordV3, Main, Exploration, bibRecordById, Pascal:10-0096522

Rhythmic pupillary oscillation in Creutzfeldt‐Jakob disease associated with the Glu/Lys mutation of prion protein codon 200

Identifieur interne : 001A28 ( Main/Exploration ); précédent : 001A27; suivant : 001A29

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 ] ; 2010-01-15.

RBID : ISTEX:401FB5BEA0A84A5CB00F597964F74BC26300FFC5

Descripteurs français

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

English descriptors

KwdEn :
- Aged, Codon, Creutzfeldt-Jakob Syndrome (complications), Creutzfeldt-Jakob disease, Creutzfeldt‐Jakob disease, Eyelid, Female, Glutamic Acid (genetics), Humans, Lysine (genetics), Magnetic Resonance Imaging (methods), Male, Mutation, Mutation (genetics), Myoclonus, Nervous system diseases, Oscillation, Periodicity, Prion, Prion protein, Prions (genetics), Pupil, Pupil Disorders (etiology), Pupil Disorders (genetics), Pupil Disorders (pathology), eyelid, myoclonus, pupil.
MESH :
- chemical , genetics : Glutamic Acid, Lysine, Prions.
- complications : Creutzfeldt-Jakob Syndrome.
- etiology : Pupil Disorders.
- genetics : Mutation, Pupil Disorders.
- methods : Magnetic Resonance Imaging.
- pathology : Pupil Disorders.
- Aged, Female, Humans, Male, Periodicity.

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. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/401FB5BEA0A84A5CB00F597964F74BC26300FFC5/fulltext/pdf

DOI: 10.1002/mds.22884

Affiliations:

Japon

Le document en format XML

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<term>Creutzfeldt‐Jakob disease</term>
<term>Eyelid</term>
<term>Female</term>
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<term>Prions (genetics)</term>
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<term>Pupil Disorders (etiology)</term>
<term>Pupil Disorders (genetics)</term>
<term>Pupil Disorders (pathology)</term>
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<term>Humans</term>
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<term>Periodicity</term>
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<term>Oscillation</term>
<term>Pathologie du   système nerveux</term>
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<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. © 2009 Movement Disorder Society</div>
</front>
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<name sortKey="Shindo, Kazumasa" sort="Shindo, Kazumasa" uniqKey="Shindo K" first="Kazumasa" last="Shindo">Kazumasa Shindo</name>
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<name sortKey="Togashi, Shinji" sort="Togashi, Shinji" uniqKey="Togashi S" first="Shinji" last="Togashi">Shinji Togashi</name>
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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...)

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Pour manipuler ce document sous Unix (Dilib)

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	Movement Disorders (revue)
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