MovDisordV3, PubMed, Curation, bibRecord, 002268

Atypical Parkinsonism in distal myopathy with rimmed vacuoles.

Identifieur interne : 002268 ( PubMed/Curation ); précédent : 002267; suivant : 002269

Atypical Parkinsonism in distal myopathy with rimmed vacuoles.

Auteurs : Tomohiko Ishihara [Japon] ; Tetsutaro Ozawa ; Shuichi Igarashi ; Yuko Kitsukawa ; Masahito Takagi ; Masaki Hirose ; Takayoshi Tokutake ; Keiko Tanaka ; Masatoyo Nishizawa

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18383535

English descriptors

KwdEn :
- Distal Myopathies (pathology), Dystonia (pathology), Dystonia (physiopathology), Electromyography, Humans, Hypokinesia (etiology), Male, Middle Aged, Parkinson Disease (pathology), Vacuoles (pathology), Vacuoles (ultrastructure).
MESH :
- etiology : Hypokinesia.
- pathology : Distal Myopathies, Dystonia, Parkinson Disease, Vacuoles.
- physiopathology : Dystonia.
- ultrastructure : Vacuoles.
- Electromyography, Humans, Male, Middle Aged.

Abstract

A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta-iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation.

DOI: 10.1002/mds.22018
PubMed: 18383535

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

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002268

Links to Exploration step

pubmed:18383535

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Atypical Parkinsonism in distal myopathy with rimmed vacuoles.</title>
<author><name sortKey="Ishihara, Tomohiko" sort="Ishihara, Tomohiko" uniqKey="Ishihara T" first="Tomohiko" last="Ishihara">Tomohiko Ishihara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
</author>
<author><name sortKey="Igarashi, Shuichi" sort="Igarashi, Shuichi" uniqKey="Igarashi S" first="Shuichi" last="Igarashi">Shuichi Igarashi</name>
</author>
<author><name sortKey="Kitsukawa, Yuko" sort="Kitsukawa, Yuko" uniqKey="Kitsukawa Y" first="Yuko" last="Kitsukawa">Yuko Kitsukawa</name>
</author>
<author><name sortKey="Takagi, Masahito" sort="Takagi, Masahito" uniqKey="Takagi M" first="Masahito" last="Takagi">Masahito Takagi</name>
</author>
<author><name sortKey="Hirose, Masaki" sort="Hirose, Masaki" uniqKey="Hirose M" first="Masaki" last="Hirose">Masaki Hirose</name>
</author>
<author><name sortKey="Tokutake, Takayoshi" sort="Tokutake, Takayoshi" uniqKey="Tokutake T" first="Takayoshi" last="Tokutake">Takayoshi Tokutake</name>
</author>
<author><name sortKey="Tanaka, Keiko" sort="Tanaka, Keiko" uniqKey="Tanaka K" first="Keiko" last="Tanaka">Keiko Tanaka</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2008">2008</date>
<idno type="doi">10.1002/mds.22018</idno>
<idno type="RBID">pubmed:18383535</idno>
<idno type="pmid">18383535</idno>
<idno type="wicri:Area/PubMed/Corpus">002268</idno>
<idno type="wicri:Area/PubMed/Curation">002268</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Atypical Parkinsonism in distal myopathy with rimmed vacuoles.</title>
<author><name sortKey="Ishihara, Tomohiko" sort="Ishihara, Tomohiko" uniqKey="Ishihara T" first="Tomohiko" last="Ishihara">Tomohiko Ishihara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
</author>
<author><name sortKey="Igarashi, Shuichi" sort="Igarashi, Shuichi" uniqKey="Igarashi S" first="Shuichi" last="Igarashi">Shuichi Igarashi</name>
</author>
<author><name sortKey="Kitsukawa, Yuko" sort="Kitsukawa, Yuko" uniqKey="Kitsukawa Y" first="Yuko" last="Kitsukawa">Yuko Kitsukawa</name>
</author>
<author><name sortKey="Takagi, Masahito" sort="Takagi, Masahito" uniqKey="Takagi M" first="Masahito" last="Takagi">Masahito Takagi</name>
</author>
<author><name sortKey="Hirose, Masaki" sort="Hirose, Masaki" uniqKey="Hirose M" first="Masaki" last="Hirose">Masaki Hirose</name>
</author>
<author><name sortKey="Tokutake, Takayoshi" sort="Tokutake, Takayoshi" uniqKey="Tokutake T" first="Takayoshi" last="Tokutake">Takayoshi Tokutake</name>
</author>
<author><name sortKey="Tanaka, Keiko" sort="Tanaka, Keiko" uniqKey="Tanaka K" first="Keiko" last="Tanaka">Keiko Tanaka</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</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="2008" type="published">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Distal Myopathies (pathology)</term>
<term>Dystonia (pathology)</term>
<term>Dystonia (physiopathology)</term>
<term>Electromyography</term>
<term>Humans</term>
<term>Hypokinesia (etiology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (pathology)</term>
<term>Vacuoles (pathology)</term>
<term>Vacuoles (ultrastructure)</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hypokinesia</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Distal Myopathies</term>
<term>Dystonia</term>
<term>Parkinson Disease</term>
<term>Vacuoles</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Vacuoles</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Electromyography</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta-iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18383535</PMID>
<DateCreated><Year>2008</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>08</Month>
<Day>06</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>23</Volume>
<Issue>6</Issue>
<PubDate><Year>2008</Year>
<Month>Apr</Month>
<Day>30</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Atypical Parkinsonism in distal myopathy with rimmed vacuoles.</ArticleTitle>
<Pagination><MedlinePgn>912-5</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22018</ELocationID>
<Abstract><AbstractText>A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta-iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation.</AbstractText>
<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ishihara</LastName>
<ForeName>Tomohiko</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ozawa</LastName>
<ForeName>Tetsutaro</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Igarashi</LastName>
<ForeName>Shuichi</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kitsukawa</LastName>
<ForeName>Yuko</ForeName>
<Initials>Y</Initials>
</Author>
<Author ValidYN="Y"><LastName>Takagi</LastName>
<ForeName>Masahito</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hirose</LastName>
<ForeName>Masaki</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tokutake</LastName>
<ForeName>Takayoshi</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tanaka</LastName>
<ForeName>Keiko</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nishizawa</LastName>
<ForeName>Masatoyo</ForeName>
<Initials>M</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>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049310">Distal Myopathies</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018476">Hypokinesia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014617">Vacuoles</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000648">ultrastructure</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year>
<Month>4</Month>
<Day>3</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2008</Year>
<Month>8</Month>
<Day>7</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2008</Year>
<Month>4</Month>
<Day>3</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.22018</ArticleId>
<ArticleId IdType="pubmed">18383535</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 002268 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 002268 | 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:18383535
   |texte=   Atypical Parkinsonism in distal myopathy with rimmed vacuoles.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:18383535" \
       | 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)

Atypical Parkinsonism in distal myopathy with rimmed vacuoles.

Atypical Parkinsonism in distal myopathy with rimmed vacuoles.

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