MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000855

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

Identifieur interne : 000855 ( PascalFrancis/Checkpoint ); précédent : 000854; suivant : 000856

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.

Affiliations:

Japon

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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>
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<series><title level="j" type="main">Movement disorders</title>
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<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>
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<term>Pupil</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.</div>
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<s5>11</s5>
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<fC03 i1="05" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Protéine PrP</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Prion protein</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Protéina PrP</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Codon</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Codon</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Codón</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Pupille</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Pupil</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Pupila</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Paupière</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Eyelid</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Párpado</s0>
<s5>15</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Prion</s0>
<s5>78</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Prion</s0>
<s5>78</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Prion</s0>
<s5>78</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie à prions</s0>
<s2>NM</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Prion disease</s0>
<s2>NM</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Prion enfermedad</s0>
<s2>NM</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Infection</s0>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Infection</s0>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Infección</s0>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fN21><s1>060</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<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

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