Adult-onset chorea and mitochondrial cytopathy.
Identifieur interne : 003174 ( PubMed/Curation ); précédent : 003173; suivant : 003175Adult-onset chorea and mitochondrial cytopathy.
Auteurs : Morgane Caer [France] ; Karine Viala ; Richard Levy ; Thierry Maisonobe ; Florence Chochon ; Agnès Lombès ; Yves AgidSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Age of Onset, Biopsy, Cerebrospinal Fluid Proteins (metabolism), Chorea (genetics), Chorea (metabolism), Chorea (pathology), Cognition Disorders (diagnosis), DNA Mutational Analysis, Female, Humans, Male, Mitochondrial Diseases (genetics), Mitochondrial Diseases (metabolism), Mitochondrial Diseases (pathology), Muscle Fibers, Fast-Twitch (metabolism), Muscle Fibers, Fast-Twitch (pathology), Muscle, Skeletal (metabolism), Muscle, Skeletal (pathology), Neuropsychological Tests.
- MESH :
- chemical , metabolism : Cerebrospinal Fluid Proteins.
- diagnosis : Cognition Disorders.
- genetics : Chorea, Mitochondrial Diseases.
- metabolism : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- pathology : Chorea, Mitochondrial Diseases, Muscle Fibers, Fast-Twitch, Muscle, Skeletal.
- Adult, Age of Onset, Biopsy, DNA Mutational Analysis, Female, Humans, Male, Neuropsychological Tests.
Abstract
We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.
DOI: 10.1002/mds.20363
PubMed: 15597339
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003174
Links to Exploration step
pubmed:15597339Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Adult-onset chorea and mitochondrial cytopathy.</title><author><name sortKey="Caer, Morgane" sort="Caer, Morgane" uniqKey="Caer M" first="Morgane" last="Caer">Morgane Caer</name><affiliation wicri:level="1"><nlm:affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Viala, Karine" sort="Viala, Karine" uniqKey="Viala K" first="Karine" last="Viala">Karine Viala</name></author><author><name sortKey="Levy, Richard" sort="Levy, Richard" uniqKey="Levy R" first="Richard" last="Levy">Richard Levy</name></author><author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name></author><author><name sortKey="Chochon, Florence" sort="Chochon, Florence" uniqKey="Chochon F" first="Florence" last="Chochon">Florence Chochon</name></author><author><name sortKey="Lombes, Agnes" sort="Lombes, Agnes" uniqKey="Lombes A" first="Agnès" last="Lombès">Agnès Lombès</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20363</idno><idno type="RBID">pubmed:15597339</idno><idno type="pmid">15597339</idno><idno type="wicri:Area/PubMed/Corpus">003174</idno><idno type="wicri:Area/PubMed/Curation">003174</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Adult-onset chorea and mitochondrial cytopathy.</title><author><name sortKey="Caer, Morgane" sort="Caer, Morgane" uniqKey="Caer M" first="Morgane" last="Caer">Morgane Caer</name><affiliation wicri:level="1"><nlm:affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Viala, Karine" sort="Viala, Karine" uniqKey="Viala K" first="Karine" last="Viala">Karine Viala</name></author><author><name sortKey="Levy, Richard" sort="Levy, Richard" uniqKey="Levy R" first="Richard" last="Levy">Richard Levy</name></author><author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name></author><author><name sortKey="Chochon, Florence" sort="Chochon, Florence" uniqKey="Chochon F" first="Florence" last="Chochon">Florence Chochon</name></author><author><name sortKey="Lombes, Agnes" sort="Lombes, Agnes" uniqKey="Lombes A" first="Agnès" last="Lombès">Agnès Lombès</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Biopsy</term><term>Cerebrospinal Fluid Proteins (metabolism)</term><term>Chorea (genetics)</term><term>Chorea (metabolism)</term><term>Chorea (pathology)</term><term>Cognition Disorders (diagnosis)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Mitochondrial Diseases (genetics)</term><term>Mitochondrial Diseases (metabolism)</term><term>Mitochondrial Diseases (pathology)</term><term>Muscle Fibers, Fast-Twitch (metabolism)</term><term>Muscle Fibers, Fast-Twitch (pathology)</term><term>Muscle, Skeletal (metabolism)</term><term>Muscle, Skeletal (pathology)</term><term>Neuropsychological Tests</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Cerebrospinal Fluid Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term><term>Muscle Fibers, Fast-Twitch</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term><term>Mitochondrial Diseases</term><term>Muscle Fibers, Fast-Twitch</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Biopsy</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Neuropsychological Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15597339</PMID><DateCreated><Year>2005</Year><Month>04</Month><Day>13</Day></DateCreated><DateCompleted><Year>2005</Year><Month>08</Month><Day>25</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>4</Issue><PubDate><Year>2005</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Adult-onset chorea and mitochondrial cytopathy.</ArticleTitle><Pagination><MedlinePgn>490-2</MedlinePgn></Pagination><Abstract><AbstractText>We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.</AbstractText><CopyrightInformation>Copyright 2004 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Caer</LastName><ForeName>Morgane</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Fédération de Neurologie, Groupe hospitalier de la Pitié-Salpétrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Viala</LastName><ForeName>Karine</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Levy</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Maisonobe</LastName><ForeName>Thierry</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Chochon</LastName><ForeName>Florence</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lombès</LastName><ForeName>Agnès</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Yves</ForeName><Initials>Y</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="D002556">Cerebrospinal Fluid Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001706">Biopsy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002556">Cerebrospinal Fluid Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D028361">Mitochondrial Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018656">Muscle Fibers, Fast-Twitch</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>12</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>8</Month><Day>27</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2004</Year><Month>12</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20363</ArticleId><ArticleId IdType="pubmed">15597339</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003174 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 003174 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:15597339
|texte= Adult-onset chorea and mitochondrial cytopathy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:15597339" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |