MovDisordV3, PubMed, Curation, bibRecord, 000637

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

Identifieur interne : 000637 ( PubMed/Curation ); précédent : 000636; suivant : 000638

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

Auteurs : Madeleine E. Sharp [États-Unis] ; Karen S. Marder ; Lucien Côté ; Lorraine N. Clark ; William C. Nichols ; Jean-Paul Vonsattel ; Roy N. Alcalay

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24375549

English descriptors

KwdEn :
- Adult, Gene Dosage, Humans, Levodopa (therapeutic use), Lewy Bodies (genetics), Lewy Bodies (pathology), Male, Mutation, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (pathology), Substantia Nigra (pathology), Ubiquitin-Protein Ligases (genetics).
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Levodopa.
- drug therapy : Parkinson Disease.
- genetics : Lewy Bodies, Parkinson Disease.
- pathology : Lewy Bodies, Parkinson Disease, Substantia Nigra.
- Adult, Gene Dosage, Humans, Male, Mutation.

Abstract

PARKIN-related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN mutations is unclear, although some evidence supports causality. Second, unlike sporadic Parkinson's disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote PARKIN carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of PARKIN-related disease.

DOI: 10.1002/mds.25792
PubMed: 24375549

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

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000637

Links to Exploration step

pubmed:24375549

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.</title>
<author><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Columbia University, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Columbia University, New York, New York</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
</author>
<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
</author>
<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
<idno type="RBID">pubmed:24375549</idno>
<idno type="pmid">24375549</idno>
<idno type="doi">10.1002/mds.25792</idno>
<idno type="wicri:Area/PubMed/Corpus">000637</idno>
<idno type="wicri:Area/PubMed/Curation">000637</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.</title>
<author><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Columbia University, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Columbia University, New York, New York</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
</author>
<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
</author>
<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</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="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Lewy Bodies (genetics)</term>
<term>Lewy Bodies (pathology)</term>
<term>Male</term>
<term>Mutation</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
<term>Substantia Nigra (pathology)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Bodies</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Bodies</term>
<term>Parkinson Disease</term>
<term>Substantia Nigra</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">PARKIN-related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN mutations is unclear, although some evidence supports causality. Second, unlike sporadic Parkinson's disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote PARKIN carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of PARKIN-related disease.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24375549</PMID>
<DateCreated><Year>2014</Year>
<Month>04</Month>
<Day>04</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>12</Month>
<Day>03</Day>
</DateCompleted>
<DateRevised><Year>2015</Year>
<Month>04</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>4</Issue>
<PubDate><Year>2014</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.</ArticleTitle>
<Pagination><MedlinePgn>566-8</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25792</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">PARKIN-related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN mutations is unclear, although some evidence supports causality. Second, unlike sporadic Parkinson's disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote PARKIN carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of PARKIN-related disease.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Clinical chart, genetic analysis, and pathological findings of a patient with familial PD are reviewed.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous PARKIN exon 3-4 deletion, also present in 2 family members with early-onset PD. Postmortem examination showed severe neuronal loss in the substantia nigra and nucleus coeruleus with the presence of diffuse Lewy bodies.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The deletion is unlikely an incidental finding considering family history, age at onset, and the presence of clinical and pathological features not typical of sporadic PD.</AbstractText>
<CopyrightInformation>© 2013 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sharp</LastName>
<ForeName>Madeleine E</ForeName>
<Initials>ME</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Columbia University, New York, New York, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Marder</LastName>
<ForeName>Karen S</ForeName>
<Initials>KS</Initials>
</Author>
<Author ValidYN="Y"><LastName>Côté</LastName>
<ForeName>Lucien</ForeName>
<Initials>L</Initials>
</Author>
<Author ValidYN="Y"><LastName>Clark</LastName>
<ForeName>Lorraine N</ForeName>
<Initials>LN</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nichols</LastName>
<ForeName>William C</ForeName>
<Initials>WC</Initials>
</Author>
<Author ValidYN="Y"><LastName>Vonsattel</LastName>
<ForeName>Jean-Paul</ForeName>
<Initials>JP</Initials>
</Author>
<Author ValidYN="Y"><LastName>Alcalay</LastName>
<ForeName>Roy N</ForeName>
<Initials>RN</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>2UL1RR024156</GrantID>
<Acronym>RR</Acronym>
<Agency>NCRR NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>5P50AG08702</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>NS036630</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 AG008702</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 NS036630</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R56 NS036630</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R56NS036630</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>UL1 RR024156</GrantID>
<Acronym>RR</Acronym>
<Agency>NCRR NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2013</Year>
<Month>12</Month>
<Day>27</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>46627O600J</RegistryNumber>
<NameOfSubstance UI="D007980">Levodopa</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="C111567">parkin protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2013 Jun;28(6):702-4</RefSource>
<PMID Version="1">23653422</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>JAMA Neurol. 2014 Jan;71(1):62-7</RefSource>
<PMID Version="1">24190026</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2001 Sep;50(3):293-300</RefSource>
<PMID Version="1">11558785</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 1960 Feb;23:74-80</RefSource>
<PMID Version="1">13800154</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Sep;58(3):411-22</RefSource>
<PMID Version="1">16130111</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2007 May 15;22(7):932-7</RefSource>
<PMID Version="1">17415800</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2009 Jul 28;73(4):279-86</RefSource>
<PMID Version="1">19636047</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurol Sci. 2010 Feb 15;289(1-2):18-22</RefSource>
<PMID Version="1">19733364</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2010 Jun;67(6):731-8</RefSource>
<PMID Version="1">20558392</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Int Neuropsychol Soc. 2011 Jan;17(1):91-100</RefSource>
<PMID Version="1">21092386</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2011 Jan 25;76(4):319-26</RefSource>
<PMID Version="1">21205674</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Acta Neuropathol. 2012 Jun;123(6):901-3</RefSource>
<PMID Version="1">22555654</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2012 Jun;27(7):831-42</RefSource>
<PMID Version="1">22451330</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2001 Mar;49(3):367-76</RefSource>
<PMID Version="1">11261512</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D018628">Gene Dosage</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016631">Lewy Bodies</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013378">Substantia Nigra</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">NIHMS651424</OtherID>
<OtherID Source="NLM">PMC4281030</OtherID>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Lewy bodies</Keyword>
<Keyword MajorTopicYN="N">Parkinson's disease</Keyword>
<Keyword MajorTopicYN="N">neuropathology</Keyword>
<Keyword MajorTopicYN="N">parkin</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
<Month>7</Month>
<Day>20</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2013</Year>
<Month>11</Month>
<Day>15</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2013</Year>
<Month>11</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year>
<Month>12</Month>
<Day>27</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2013</Year>
<Month>12</Month>
<Day>31</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2014</Year>
<Month>1</Month>
<Day>1</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2014</Year>
<Month>12</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">24375549</ArticleId>
<ArticleId IdType="doi">10.1002/mds.25792</ArticleId>
<ArticleId IdType="pmc">PMC4281030</ArticleId>
<ArticleId IdType="mid">NIHMS651424</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 000637 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000637 | 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:24375549
   |texte=   Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:24375549" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

Source :

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

Pour générer des pages wiki