Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.
Identifieur interne : 002986 ( Ncbi/Merge ); précédent : 002985; suivant : 002987Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.
Auteurs : Kaori Nagasaka [Japon] ; Emiko Ohta ; Takamura Nagasaka ; Shinji Togashi ; Michiaki Miwa ; Yuki Nakamura ; Kazumasa Shindo ; Zenji ShiozawaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.22884
PubMed: 20077484
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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"><nlm:affiliation>Department of Neurology, University of Yamanashi, Shimokato, Chuou-city, Yamanashi 409-3898, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, University of Yamanashi, Shimokato, Chuou-city, Yamanashi 409-3898</wicri:regionArea><wicri:noRegion>Yamanashi 409-3898</wicri:noRegion></affiliation></author><author><name sortKey="Ohta, Emiko" sort="Ohta, Emiko" uniqKey="Ohta E" first="Emiko" last="Ohta">Emiko Ohta</name></author><author><name sortKey="Nagasaka, Takamura" sort="Nagasaka, Takamura" uniqKey="Nagasaka T" first="Takamura" last="Nagasaka">Takamura Nagasaka</name></author><author><name sortKey="Togashi, Shinji" sort="Togashi, Shinji" uniqKey="Togashi S" first="Shinji" last="Togashi">Shinji Togashi</name></author><author><name sortKey="Miwa, Michiaki" sort="Miwa, Michiaki" uniqKey="Miwa M" first="Michiaki" last="Miwa">Michiaki Miwa</name></author><author><name sortKey="Nakamura, Yuki" sort="Nakamura, Yuki" uniqKey="Nakamura Y" first="Yuki" last="Nakamura">Yuki Nakamura</name></author><author><name sortKey="Shindo, Kazumasa" sort="Shindo, Kazumasa" uniqKey="Shindo K" first="Kazumasa" last="Shindo">Kazumasa Shindo</name></author><author><name sortKey="Shiozawa, Zenji" sort="Shiozawa, Zenji" uniqKey="Shiozawa Z" first="Zenji" last="Shiozawa">Zenji Shiozawa</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.22884</idno><idno type="RBID">pubmed:20077484</idno><idno type="pmid">20077484</idno><idno type="wicri:Area/PubMed/Corpus">001A16</idno><idno 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Ohta</name></author><author><name sortKey="Nagasaka, Takamura" sort="Nagasaka, Takamura" uniqKey="Nagasaka T" first="Takamura" last="Nagasaka">Takamura Nagasaka</name></author><author><name sortKey="Togashi, Shinji" sort="Togashi, Shinji" uniqKey="Togashi S" first="Shinji" last="Togashi">Shinji Togashi</name></author><author><name sortKey="Miwa, Michiaki" sort="Miwa, Michiaki" uniqKey="Miwa M" first="Michiaki" last="Miwa">Michiaki Miwa</name></author><author><name sortKey="Nakamura, Yuki" sort="Nakamura, Yuki" uniqKey="Nakamura Y" first="Yuki" last="Nakamura">Yuki Nakamura</name></author><author><name sortKey="Shindo, Kazumasa" sort="Shindo, Kazumasa" uniqKey="Shindo K" first="Kazumasa" last="Shindo">Kazumasa Shindo</name></author><author><name sortKey="Shiozawa, Zenji" sort="Shiozawa, Zenji" uniqKey="Shiozawa Z" first="Zenji" last="Shiozawa">Zenji Shiozawa</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Creutzfeldt-Jakob Syndrome (complications)</term><term>Female</term><term>Glutamic Acid (genetics)</term><term>Humans</term><term>Lysine (genetics)</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Mutation (genetics)</term><term>Periodicity</term><term>Prions (genetics)</term><term>Pupil Disorders (etiology)</term><term>Pupil Disorders (genetics)</term><term>Pupil Disorders (pathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glutamic Acid</term><term>Lysine</term><term>Prions</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Creutzfeldt-Jakob Syndrome</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Pupil Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Pupil Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Pupil Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Periodicity</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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20077484</PMID><DateCreated><Year>2010</Year><Month>02</Month><Day>01</Day></DateCreated><DateCompleted><Year>2010</Year><Month>04</Month><Day>06</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>1</Issue><PubDate><Year>2010</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.</ArticleTitle><Pagination><MedlinePgn>111-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22884</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nagasaka</LastName><ForeName>Kaori</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Yamanashi, Shimokato, Chuou-city, Yamanashi 409-3898, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ohta</LastName><ForeName>Emiko</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Nagasaka</LastName><ForeName>Takamura</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Togashi</LastName><ForeName>Shinji</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Miwa</LastName><ForeName>Michiaki</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Nakamura</LastName><ForeName>Yuki</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Shindo</LastName><ForeName>Kazumasa</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Shiozawa</LastName><ForeName>Zenji</ForeName><Initials>Z</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011328">Prions</NameOfSubstance></Chemical><Chemical><RegistryNumber>3KX376GY7L</RegistryNumber><NameOfSubstance UI="D018698">Glutamic Acid</NameOfSubstance></Chemical><Chemical><RegistryNumber>K3Z4F929H6</RegistryNumber><NameOfSubstance UI="D008239">Lysine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007562">Creutzfeldt-Jakob Syndrome</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018698">Glutamic Acid</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008239">Lysine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010507">Periodicity</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011328">Prions</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011681">Pupil Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>1</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>1</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>4</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22884</ArticleId><ArticleId IdType="pubmed">20077484</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><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></noCountry><country name="Japon"><noRegion><name sortKey="Nagasaka, Kaori" sort="Nagasaka, Kaori" uniqKey="Nagasaka K" first="Kaori" last="Nagasaka">Kaori Nagasaka</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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